UCLA Human Genetics News 2018

Gene Chaser
An interview with Dr. Leonid Kruglyak is featured in U Magazine.

Steve Horvath:
The Mother of All Clinical Trials, Part I - ScienceBlog.com (blog) Apr 8, 2018 - Read here

The Mother of All Clinical Trials, Part II - ScienceBlog.com (blog) Apr 17, 2018 - Read here

Stanley Nelson:
Doctors Are Becoming DNA Detectives to Diagnose Super-Rare Diseases - Read here

Nelson Freimer:
A World Without Depression - Read here

Wayne Grody:
Rainbow Genomics Announces the Integration of Clinical Interpretation Services from the UCLA Clinical Genomics Center Supporting Whole Exome Sequencing Tests -Read here

Jake Lusis:
Scientists identify 2 hormones that burn fat faster, prevent and reverse diabetes in mice -Read here

Sriram Sankararaman and Graduate Student Arun Durvasula:
Could this unknown ancestor be protecting West Africans against tumours? -Read here

CRISPR tweak speeds up gene-editing process
Interesting Engineering and Science and Technology Research News reported on how UCLA geneticists tweaked the powerful gene-editing tool, CRISPR, which enabled them to monitor the outcome of tens of thousands of gene edits in the time it currently takes to analyze a few. Senior study author Leonid Kruglyak, chair of human genetics at the David Geffen School of Medicine at UCLA, and first author Meru Sadhu, a postdoctoral researcher in human genetics, were quoted.

UCLA Human Genetics News 2017

We are very happy to share the news of the appointment of Eleazar Eskin, Ph.D. as Chair of the Department of Biomathematics, effective January 1, 2018. Dr. Eskin was selected for this position following a national search and will be succeeding Dr. Janet Sinsheimer, who has served as Interim Chair for the past four years. Dr. Eskin is Professor of Computer Science and Human Genetics. His research focuses on computational genomics, an interdisciplinary field that applies techniques from computer science, statistics, mathematics, bioinformatics and medicine to elucidate the relationship between human genetic variation and disease. Under his leadership, the Department of Biomathematics will work synergistically and complementarily with the DGSOM Department of Human Genetics, the departments of Computer Science, Electrical and Computer Engineering and Bioengineering in HSSEAS, the Institute for Precision Health and the Quantitative and Computational Biology Institute, as well as other units on the UCLA campus in analyzing large health data sets. Please join us in congratulating Dr. Eskin on his new role.

Genetics: Sex and the single cell
Nature published a story, on how sex chromosomes in cells have various effects in the body, that featured the research of Karen Reue, a professor of human genetics.

Medical Xpress and MyScience.org published stories on the use of genetic sequencing at UCLA to diagnose patients with rare conditions. Dr. Stanley Nelson, co-director of the UCLA Undiagnosed Disease Network site and professor of human genetics, psychiatry and pediatrics, and Dr. Julian Martinez-Agosto, pediatrician and researcher at the Resnick Neuropsychiatric Hospital at UCLA, were quoted.

A big congratulations to Dr. Steve Horvath for being named as one of five Allen Distinguished Investigators by the Paul G. Allen Frontiers Group for his pioneering research in the field of aging and epigenetics. The official press release courtesy of the group can be read here.

Chair Dr. Leonid Kruglyak and two of his postdoctoral fellows Eyal Ben-David and Alejandro Burga were featured by Bioscience Technology and ScienceNews for their recent findings on the existence of a "selfish genetic element" in a strain of roundworms. This research further supports the previously controversial but more and more commonly found idea that a gene could behave selfishly.

Chair Dr. Leonid Kruglyak and postdoctoral fellow Alejandro Burga were authors on a publication in Science investigating the genetic mechanisms behind the evolution of the flightless Galapagos cormorant bird and how it relates to similar genetic mutations in humans suffering from bone-development disorders. Their research has been featured in this UCLA Newsroom article here and this video interview.

As one of the main sites of the Undiagnosed Diseases Network, a $45 million NIH funded initiative, a number of Principal Investigators from UCLA Human Genetics have been heavily involved in work impacting the lives of countless patients who have been unable to get a correct diagnosis for their symptoms. Harnessing the power of advanced genetic science, these doctors and scientists are attempting to identify rare and unknown illnesses, in a complex process that heralds the true meaning of precision medicine. Their groundbreaking work is being spotlighted in a feature by Anna Gorman, senior correspondent from Kaiser Health News. It's also making the rounds in other media outlets such as California Healthline, Washington Post, HealthSystemReview, etc. You can read the original piece here at Kaiser Health News' website.

Dr. Stephen Young and his colleagues Dr. Anne Beigneux and Dr. Loren Fong led a recent study discovering a new cause of high plasma triglycerides. This is a new syndrome affecting a subset of people with hypertriglyceridemia whose bodies produce autoantibodies that attack their own proteins. The study has not only discovered a new disease, but their findings have suggested that the disease is treatable. It's an excellent example of how basic science research can lead to scientific advances with direct clinical implications. Here is their feature from UCLA Newsroom and here is their publication from the New England Journal of Medicine. They've also been reported by numerous media outlets like News-Medical.net, Doctors Lounge, Science and Technology Research News, MedicalXpress, Health Canal, and Med India.

TrendinTech on April 1 featured research from Dr. Steve Horvath, Professor of Human Genetics and Biostatistics at the David Geffen School of Medicine at UCLA and the UCLA Fielding School of Public Health, in an article about understanding the "epigenetic clock," the method for measuring biological age developed by Horvath.

Sureni V. Mullegama, PhD has been honored as the 2017 recipient of the American College of Medical Genetics and Genomics PerkinElmer Diagnostics Travel Award. Dr. Mullegama was selected for her platform presentation on the "Diagnostic Utility of Clinical Exome Sequencing in Autism Spectrum Disorder. She is a second year ABMGG Clinical Molecular Genetics Fellow working under the mentorship of principal investigator Dr. Julian Martinez. More information about this recognition can be found here.

Dr. Stephen Young was the co-author on a recent study on developing a new way of visualizing the distribution of cholesterol in cells and tissues. The research has provided insight into the movement of cholesterol into and out of cells and could eventually identify mechanisms linking cholesterol to coronary artery disease. This was covered by various sources including Health Canal, Science Daily, MedicalXpress, News Medical.Net, MyScience, NanoWerk and others.

Dr. Sriram Sankararaman, Assistant Professor of Computer Science and Human Genetics is one of four exceptional young UCLA professors who have been selected to receive 2017 Sloan Research Fellowships. Here is the announcement from UCLA Newsroom.

Dr. Janet Sinsheimer has been selected to receive the 2017 L. Adrience Cupples Award for Excellence in Teaching, Research, and Service in Biostatistics, given by Boston University. This annual award recognizes an internationally recognized statistician/biostatistician who has made significant contributions to the statistical sciences and whose academic achievements reflect the contributions to teaching, research, and service exemplified by Professor L. Adrienne Cupples. We are extremely proud of Dr. Sinsheimer and congratulate her on this honor. More information about the award can be found here.

Dr. Wayne Grody is a co-chair on a project to establish a clinical practice guideline focusing on molecular biomarker testing for patients with early or advanced colorectal cancer. This fills the need for an overarching set of recommendations spanning the breadth of current knowledge and is being backed by the ASCP, CAP, AMP, and ASCO. More information can be found in the article here.

UCLA Human Genetics News 2016

Dr. Dan Geschwind, the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and Professor of Neurology and Psychiatry, was featured in an article on Technology.org about a study in the journal Cell reporting how different types of autism disorders share abnormal patterns of brain cells.

Dr. Janet Sinsheimer and Dr. Steve Horvath are co-authors on a study led by Dr. Carolyn Crandall finding that gene variants affecting a receptor in the brain that regulates estrogen release and are present across all ethnicities could determine which women get hot flashes. Stories were released on Oct 20 by Mother Nature Network, iTechPost, MyFoxZone.com, Science World Report, Technology.org, and Knowridge Science Report; Oct. 21 by Mother Nature Network, Genomeweb, ThirdAge, Consumnes Collection, Biocompare, and MedicalResearch.com; Oct. 22 by Atlanta Black Star; Oct. 24 by MDLinx and the International Federation of Gynecology and Obstetrics; and Oct. 26 by WJXT-TV, Jacksonville, Florida. Television reports continued running on stations across the nation, including WRBL-TV, Washington; KJTV-TV, Lubbock, Texas; WAWV-TV, Terre Haute, Indiana; KFSM-TV, Fort Smith, Arkansas; WTVQ-TV, Lexington, Kentucky; KTKA-TV, Topeka, Kansas, and more than 100 others.

Dr. Dan Geschwind, the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and Professor of Neurology and Psychiatry, and Dr. Eleazar Eskin were featured in an article by UPI.com regarding their research on using 3D chromosome-mapping technology to advance the understanding of schizophrenia’s cause. They were co-authors on this study, which was also covered by Reliawire and UC News.

Dr. Dan Geschwind, the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and Professor of Neurology and Psychiatry, was lead author on research showing that in families with more than one child with autism, the gene variations underlying each child's disorder often differ. This work was reported by a number of outlets including HealthDay, U.S. News & World Report, United Press International, Philly.com, Drugs.com, Doctors Lounge, and HealthCast.

Dr. Steve Horvath, Professor of Human Genetics and Biostatistics was lead author on a study showing that Latinos age more slowly on a molecular level, thus enabling them to live longer despite facing greater health challenges. He's been widely quoted by a number of domestic and international media outlets including Los Angeles Times, Fox News, Breitbart News, Long Term Living, Remezcla, CNN Espanol, Australian Network News, Psych Central, 24/7 Wall St., Latina magazine, Vivala, Sputnik News, Diario da Saude, Saude!Brasileiros, United Press International, VICE Media, KTTV-Channel 11 News, Philadelphia's CBS News affiliate, City News Service, My News LA, the Westwood Patch, the U.K.'s Daily Mail, Newsmax, Medical Daily, IMPACTO USA, EFE News, Panama's La Estrella, America Economia, RT en Espanol, and World Economic Forum.

Dr. Eric Vilain, Professor of Human Genetics, Pediatrics, and Urology serves as a consultant to the International Olympics Committee's medical commission. He was quoted on articles regarding Olympic atheletes' gender identity from a number of publications, including ESPN, People magazine, Vocativ, Sports Illustrated, and Slate.

Professor Steve Horvath was the senior author on a pair of studies published on July 25. The first, published in the Proceedings of the National Academy of Sciences, demonstrated that menopause accelerates biological aging in women. The second, published in the online issue of the journal Biological Psychiatry, linked several insomnia symptoms with acceleration in biological age. UCLA Newsroom has a feature here. The two studies have been widely circulated by a number of sources including HealthDay News, Sleep Review, CBS News, TIME, Huffington Post, Yahoo! News, Live Science, Medical News Today, Asian News International and the U.K.’s The Times, Telegraph, The Independent, International Business Times, Daily Mail and iNews. The HealthDay report was syndicated by U.S. News & World Report, the Philadelphia Inquirer and Doctors Lounge. The AFP story was syndicated by the Japan Times, Canada’s CTV News and dozens of other international outlets. In addition to quoting lead author Professor Steve Horvath of Human Genetics and Biostatistics at UCLA’s David Geffen School of Medicine and Fielding School of Public Health, they also featured first authors Judith Carroll, Assistant Professor of Psychiatry at the Semel Institute and Morgan Levine, Assistant Professor of Human Genetics.

People magazine published a feature entitled "Heroes Among Us" on May 24 profiling the research of Dr. Stanley Nelson and Dr. Carrie Miceli, two of the three co-directors of the Center for Duchenne Muscular Dystrophy. Theirs is the only center west of Ohio that is conducting scientific research and offering boys born with the deadly genetic disease access to state-of-the-art care and clinical trials. You can read the article here, which was also featured on Yahoo! News.

As of July 1, 2016, Professor Leonid Kruglyak will be appointed as the new chair of the Department of Human Genetics. Dr. Kruglyak, a world class scientist and educator, will be replacing Professor Karen Reue, who has served as interim chair for the past two years. A member of the UCLA faculty since 2013 and an Investigator of the Howard Hughes Medical Institute (HHMI), Dr. Kruglyak is Professor of Human Genetics and Biological Chemistry. He is an ideal scientist and leader and will work together to develop and implement a broad institutional vision for genetics and genomics on our campus and in our Health System and School. Dr. Kruglyak will be an essential partner in new academic and clinical initiatives involving Precision Health, Biomedical Informatics and Computational Medicine, and Quantitative & Computational Biosciences.

Nature published a profile on Dr. Eric Vilain and his research on disorders of sex development. The article can be read here.

The Scientist published an article showcasing the new technique developed by researchers Meru Sadhu and Joshua Bloom in the laboratory of Dr. Leonid Kruglyak, Professor of Human Genetics and Biological Chemistry at the David Geffen School of Medicine at UCLA, to manipulate chromosome recombination, allowing high-resolution genetic mapping of phenotypic traits in yeast. The findings were published in Science and Nature Reviews Genetics. The article can be read here.

Congratulations to Dr. Stephen Young for his election to the National Academy of Sciences. One of 84 new members and 21 new foreign associates, this honor is given for recognition of distinguished and continuing achievements in original research. His research focuses on two areas — plasma triglyceride metabolism and diseases of the nuclear envelope. His group characterized fundamental aspects of triglyceride hydrolysis through studies of the endothelial cell protein, GPIHBP1. He has also made important contributions to understanding the role of nuclear lamina in the developing brain, and defects in progeria, a disease caused by a genetic defect in a nuclear lamina protein.

Dr. Eric Vilain was featured in an article by OZY titled "The Modern Master of Sex". In it, he shares his thoughts on the complex issues of gender identity, as well as information about the research they are pursuing at his Center for Gender-Based Biology. The article can be found here.

A number of sources reported on a study led by Dr. Brent Fogel that found a state-of-the-art molecular genetic test that greatly improves the speed and accuracy with which one can diagnose neurogenetic disorders. More information is available at MedicalXpress, Examiner.com, Science Codex, Health Canal, News-Medical.net, Med India, and Science Daily.

Congratulations to Dr. Stephen Cederbaum, one of the esteemed recipients of the 2016 Rare Impact Award from the National Organization for Rare Disorders. Dr. Cederbaum's work has made a difference in the fight against rare diseases and his patients have been known to describe him as having changed their lives forever. Here is the news article.

Dr. Wayne Grody will be one of the principal investigators performing molecular work on a large collaborative research project to map the Armenian genome. This genetic mapping will have a great impact on the life sciences and offer enormous benefits in terms of better general health care for Armenians worldwide, as well as potentially lead to important findings on Familial Mediterranean Fever. You can read more about the partnership here and here.

Starting March 1, Dr. Daniel Geschwind will be taking on the position of senior associate dean and associate vice chancellor of precision medicine in the UCLA Health System and David Geffen School of Medicine. Here is the announcement from the UCLA Newsroom.

Dr. Bogdan Pasaniuc is senior author on a paper presenting an imputation-based approach that uses gene expression and genome-wide association study information to search for transcriptome-wide associations related to complex traits or diseases. Their research group then applied this strategy to find genes with expression ties to obesity-relevant traits. Genomeweb has featured their study here.

Dr. Nelson Freimer's recently published research indicates that more than a dozen traits related to sleep, wake, and activity cycles associated with severe bipolar disorder appear to be inherited. More information on the study can be found in the feature here.

Research by Dr. Daniel Geschwind is showing that a specific genetic mechanism responsible for repairing the peripheral nervous system does not exist in the central nervous system. His research team also found a drug that may aid in the repair of the central nervous system, which may lead to future treatments for people with paralysis. Their findings have been reported by United Press International and News-Medical.net.

A big congratulations to Dr. Leonid Kruglyak for being awarded the 2016 Edward Novitski Prize by the Genetics Society of America (GSA). The award recognizes his extraordinary level of creativity and intellectual ingenuity in the solution of significant problems in genetics research. The announcement can be viewed here.

Dr. Daniel Geschwind's recent publication in Neuron regarding new drug treatment methods for autism was spotlighted by the ScienceBlog here.

Congratulations to Dr. Eleazar Eskin for being featured in the Jewish Journal for his collaborative research efforts with Dr. Eran Halperin, from the Tel Aviv University Safra Center for Bioinformatics. The article can be seen here.

UCLA Human Genetics News 2015

Geneticists Dr. Katrina Dipple, Dr. Stanley Nelson, Dr. Christina Palmer, and Dr. Eric Vilain are co-principal investigators in the Undiagnosed Disease Network (UDN). This new UCLA program aims to solve mystery genetic diseases. It is an NIH-funded effort that offers hope for people who, even after extensive medical testing, are still searching for answers about what’s causing their illnesses. Here is the UCLA Newsroom article.

Dr. Eric Vilain and his research on epigenetics and sexual attraction were featured in an August 23rd article in Boston Globe Magazine about what makes people gay. Matthew Bramble, a graduate student in Dr. Vilain’s lab, was also quoted.

The Twitter feed of UCLA researcher Dr. Leonid Kruglyak was highlighted in an August 18th article by Wired as one of the best 27 feeds to follow in the world of science.

New research into the genetic architecture of schizophrenia by Dr. Roel Ophoff, a lead investigator at the Center for Neurobehavioral Genetics, and Dr. Loes Olde Loohuis, a post-doc at the center, was reported in the July 10th edition of BioScience Technology and Medical News Today.

Congratulations to Dr. Leonid Kruglyak who has been honored by the American Society of Human Genetics (ASHG) as the 2015 recipient of the Curt Stern Award. This annual award, named for the late pioneering geneticist Curt Stern, PhD, recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade. Dr. Kruglyak will be presented the award, which will include a crystal plaque and cash prize, on Friday, October 9, during the organization's 65th Annual Meeting in Baltimore. More information can be found at the following links: ASHG website, Facebook, Twitter, Google Plus, EurekAlert.

A few Human Genetics faculty were featured in the Spring 2015 issue of the UCLA David Geffen School of Medicine's U Magazine. Dr. Eric Vilain's research is the cover story. Dr. Steve Horvath's study on aging is on page 7. Dr. Karen Reue is mentioned on page 25. It is available in PDF format here.

A UCLA study finding that Down syndrome ages the brain 11 years faster was reported Feb. 26 by Disability Scoop, and Feb. 19 by MedicalXpress, Health Canal and the Health Medicine Network. Dr. Steve Horvath, a Professor of Human Genetics and Biostatistics at the David Geffen School of Medicine at UCLA and UCLA Fielding School of Public Health, led the research.

Congratulations to Dr. Marc Suchard! He is one of the 24 new members elected to the International Statistics Institute in the fourth round of 2014 elections. The list of the new members can be found here.

Dr. Eric Vilain, Professor of Human Genetics, Pediatrics and Urology at the David Geffen School of Medicine at UCLA and Director of the UCLA Center for Gender-Based Biology, was interviewed in a Nature news feature on February 18, 2015. The article titled "Sex Redefined" can be found here.

U Magazine's Winter 2015 issue features an article titled, "What Makes Us Fat?" It discusses research tools to study complicated individual genetic differences in how we gain weight. In the article, Professor and Interim Chair Dr. Karen Reue looks at the question of weight gain in women and Professor and Co-Vice Chair Dr. Jake Lusis uses systems biology to measure differences within an organism to determine how they fit together to influence such things as obesity and diet.

Reuters reported Jan. 29 on new regulations preventing female athletes with as much testosterone in their blood as some men to compete in women's sporting events. Dr. Eric Vilain, Professor of Human Genetics, Pediatrics and Urology at the David Geffen School of Medicine at UCLA and co-director of the UCLA Center for Society and Health, was interviewed. He coauthored a commentary in support of the current regulations in the Journal of Clinical Endocrinology and Metabolism.

Dr. Daniel Geschwind, Professor of Neurology, Psychiatry, and Genetics, and Director of the Center for Autism Research and Treatment at the UCLA Semel Institute, was featured widely in the media regarding his research that used the hormone oxytocin to restore social functioning in a mouse model of autism. Coverage included Jan. 21 in The Scientist; Jan. 22 in Scicasts.com; Jan.23 in Medical Daily and News-Medical.Net; Jan. 27 in Iran-Daily.com; and Jan 28 in MedicalXpress and LaboratoryEquipment.com.

UCLA Human Genetics News 2014

Westside Today (Oct. 31), Medical News Today (Oct. 31), and Scicasts (Nov. 3), reported on a new study about two previously unknown genes that help play a crucial role in how progenitor stem cells are activated to fight infection. The discovery could lead to the development of new therapies that could help fight diseases. Dr. Julian Martinez-Agosto, Assistant Professor of Pediatrics and Human Genetics and a member of the UCLA Broad Stem Cell Research Center, was quoted.

Scicasts (Oct. 24) and Phys.org (Oct. 27) reported on a study establishing a benchmark standard to assess how culture conditions used to procure stem cells in the lab compare to those found in the human embryo. The newer generation culture methods appear to better resemble those found in the natural environment of developing embryos. This work lays the foundation for adoption of standardized protocol amongst the scientific community. The study was led by Dr. Guoping Fan, Professor of Human Genetics, as well as a member of the Broad Stem Cell Research Center and UCLA’s Jonsson Comprehensive Cancer Center.

The Football Examiner (Oct. 17), Irish Health (Oct. 19) and Imperial Valley News (Oct. 19) reported on a study by Dr. Steve Horvath that found that obesity ages the liver. Horvath is a professor of Human Genetics at the David Geffen School of Medicine and a professor of Biostatistics at the Fielding School of Public Health. The article can be seen here: http://www.irishhealth.com/article.html?id=24121&ss=horvath

UCLA's Clinical Genomics Center is profiled in U.S. News & World Report's prestigious 2014 "Best Hospitals" edition. The site receives 35 million visits a month from 25 million readers. It is a rare eight-page photo essay and in-depth story about the cutting-edge work led by UCLA’s devoted genetic researchers, clinicians and counselors to diagnose patients with rare medical disorders and discover life-saving treatments for cancer. The article is titled "UCLA's DNA Detectives in Action" and can be seen here: http://health.usnews.com/health-news/hospital-of-tomorrow/articles/2014/08/25/uclas-dna-detectives-in-action

Dr. Katrina Dipple, Dr. Stanley Nelson, Dr. Christina Palmer, and Dr. Eric Vilain are co-principal investigators on a grant that has been awarded $7.2 million by the National Institutes of Health. It is part of a $120 million initiative called the Undiagnosed Diseases Network and is geared towards comprehensive clinical research in mystery genetic diseases. The David Geffen School of Medicine at UCLA is one of just six institutions nationwide to have been chosen by NIH to aid in the agency's efforts to develop methods to diagnose rare genetic disorders. More information can be found here: http://newsroom.ucla.edu/releases/ucla-awarded-7-million-to-unravel-mystery-genetic-diseases

Congratulations to Professor Karen Reue, who has been announced as the Interim Chair of the Department of Human Genetics beginning July 2014. Dr. Reue is a highly accomplished scientist and educator and will be replacing Professor Kenneth Lange, who has completed 11 remarkably distinguished years as Chair of the Department.

Congratulations to Steven Klein, a graduate student working in Dr. Julian Martinez's laboratory, who has recently been selected to be a part of the 2014 Class of Weatherstone Predoctoral Fellows. This is a prestigious program that awards grants to rising young talent in the field of autism research. More information about the program and this year's class can be found here: http://www.autismspeaks.org/about-us/press-releases/autism-speaks-announces-2014-weatherstone-predoctoral-fellows

UCLA Human Genetics News 2013

Katrina Dipple was recently promoted to the rank of Professor and Julian Martinez recently received tenure with the University. Congratulations to both!

The Department of Human Genetics is glad to welcome Dr. Leonid Kruglyak as a new faculty member here. He has a joint appointment with the Department of Biological Chemistry and is a founding member of the Computational Biosciences Institute. More information about Dr. Kruglyak and his laboratory can be found at his website here: http://labs.genetics.ucla.edu/kruglyak/

Janet S. Sinsheimer has been named a fellow of the American Statistical Association (ASA), the nation's preeminent professional statistical society, announced ASA President Marie Davidian, a Professor of Statistics at North Carolina State University. Sinsheimer is a Professor of Human Genetics in the David Geffen School of Medicine at UCLA. To be recognized as a 2013 ASA Fellow, each honoree must make outstanding professional contributions to and have exhibited leadership in the field of statistical science. Sinsheimer was honored for pioneering statistical contributions to phylogenetics and the development of the maternal-fetal genotype incompatibility test in genetic epidemiology; for outstanding and sustained mentorship of graduate students; and for exceptional commitment to diversity in the statistical sciences. Sinsheimer was awarded a certificate at a ceremony August 6 at the annual Joint Statistical Meetings in Montréal, Québec, Canada. "I congratulate Janet on being honored as a new ASA Fellow," said Davidian. "Her accomplishments have contributed greatly to the advancement of statistical science and have rightfully earned her the respect and admiration of her ASA peers." The designation of ASA Fellow has been a significant honor for nearly 100 years. Under ASA bylaws, the Committee on Fellows can elect up to one-third of one percent of the total membership as fellows each year. Individuals are nominated by their peers in the association membership. To be honored, nominees must have an established reputation and have made outstanding contributions in statistical science. The Committee on Fellows evaluates each candidate's contributions to the advancement of statistical science and places due weight to published works, the position held with their employer, ASA activities, membership and accomplishments in other societies and other professional activities.

The Department of Human Genetics is proud to announce that Professor Marc Suchard was the recipient of the 2013 COPSS Award. The COPSS Presidents' Award is given annually by the Committee of Presidents of Statistical Societies to a person under the age of 40, in recognition of outstanding contributions to the profession of statistics. It is awarded by the five sponsoring statistical societies: American Statistical Association (ASA), The Statistical Society of Canada (SSC), The Institute of Mathematical Statistics (IMS), The Eastern North American Region of the International Biometric Society (ENAR), The Western North American Region of the International Biometric Society (WNAR). This award is widely regarded as the "Nobel Prize in Statistics," as it is a worldwide competition encompassing the entire field and only a single award is given each year.

UCLA scientists, in collaboration with teams in China, have used the powerful technology of single-cell RNA sequencing to track the genetic development of a human and a mouse embryo at an unprecedented level of accuracy. The success of this technique could lead to genetic diagnoses of diseases with higher resolution and in embryos earlier than ever achieved before, even when the embryo consists of only eight cells. The study, published online ahead of press in the journal Nature, was led by Guoping Fan, Professor of Human Genetics and Molecular Biology and member of the Jonsson Comprehensive Cancer Center and the Eli & Edythe Broad Center of Regenerative Medicine and Stem Cell Research. Using the genome data analysis methods developed by co-author Steve Horvath at UCLA, they have uncovered crucial gene networks and can now predict possible future genetic disorders at the 8-cell stage. This research was supported by the Chinese Ministry of Science and Technology, The International Science and Technology Cooperation Program of China, and the National Natural Science Foundation of China. The full study is available here: http://www.nature.com/nature/journal/vaop/ncurrent/full/nature12364.html

UCLA Human Genetics News 2012

Jerome I. Rotter, M.D., of Cedars Sinai and UCLA, was the recipient of the 2012 Cedars-Sinai Pioneer in Medicine Award, given at the Annual Medical Staff Meeting on October 22, 2012. The award was given for internationally recognized research into the genetic basis of common diseases leading to major contributions to diabetes, insulin resistance, inflammatory bowel disease, lipids, hypertension, cardiovascular disease, and pharmacogenetics, including creating innovative new tools for risk assessment for genetic diseases; a creative teacher and mentor to a generation of fellows, researchers, and clinical geneticists.

Congratulations to Esteban Dell'Angelica, Ph.D., who received the 2011-2012 Outstanding Tutor Award of the David Geffen School of Medicine in September, 2012. This is the second time he has received this award.

The Deccan Herald and Asian News International reported May 29; RTT Newswire, Medical Daily, India’s Zee News, EmaxHealth reported May 28; and Live Science and Health Canal reported May 27 on a Nature Genetics study led by Dr. Eric Vilain, professor of Human Genetics, Pediatrics and Urology at the UCLA David Geffen School of Medicine and Director of the UCLA Institute for Society and Genetics. His team identified the gene mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. Vilain has been searching for the disease’s cause since identifying the world’s first two cases 20 years ago as a medical resident in his native France. The May 29 edition of Fox News syndicated the Live Science report.

Dr. David Rimoin, who served as Professor of Human Genetics, Medicine and Pediatrics and Director of the Intercampus Genetics Training Program at the UCLA David Geffen School of Medicine, has passed away at the age of 75, days after diagnosis of pancreatic cancer. As a research scientist and author, Dr. Rimoin pioneered studies in dwarfism and skeletal disorders, created a Tay-Sachs screening program that became a national model, and helped to demonstrate that diabetes is caused by multiple genetic variants, among many other contributions. His textbook, “Emery and Rimoin’s Principles and Practices of Genetics,” remains a classic in the field and is currently in its fifth edition. More information on Dr. Rimoin's prolific career can be found here:

UCLA Human Genetics News 2011

Dr. James A. Lake, distinguished professor of Molecular, Cell and Developmental Biology and Human Genetics, has been selected as one of the six UCLA professors (among 220 distinguished scholars, scientists, authors, artists, and business and philanthropic leaders) elected today to the American Academy of Arts and Sciences in recognition of his outstanding accomplishments.
More information can be found in this UCLA Newsroom article:

Congratulations to Dr. Marc Suchard who has been selected as the 2011 recipient of the Carroll Young Investigator Award for his wide-ranging and influential contributions to computational statistics, Bayesian modeling and computing, evolutionary medicine and biology. Dr. Suchard is a Professor in Biostatistics, Biomathematics, and Human Genetics.
More information about this award can be found here:

Dr. Stephen Young has been selected to give the George Lyman Duff Memorial Lecture at the National American Heart Association meeting this year. This award is among the most longstanding and prestigious of the AHA awards, having been established in 1956 to commemorate Dr. Duff, a founding member and past president of the original society. Dr. Young's lecture is on "GPIHBP1, the Endothelial Cell Transporter for Lipoprotein Lipase".

Dr. Dan Geschwind, the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and distinguished autism researcher, has been elected to the Institute of Medicine (IOM) at the Academy of Natural Sciences. This election is in recognition of his major contributions to the advancement of the medical sciences, health care and public health. More information about this honor can be found in this Autism Science Foundation article:

UCLA scientists have created a mouse model for autism that opens a window into the biological mechanisms that underlie the disease. The researchers found that autistic mice share similar symptoms and behaviors with people on the autism spectrum, suggesting that mouse brains and human brains are wired surprisingly alike. If so, the model offers a promising way to test new therapies that may one day help people with autism. The study is published in the Sept. 30 edition of the journal Cell. More information can be found in this UCLA Newsroom article:

Professor Esteban Dell'Angelica has been selected to receive the Eugen Weber Honors Collegium Teaching Award. Each year, this award is given to an Honors Faculty member who has shown special dedication to interdisciplinary education and Honors students. Professor Dell'Angelica often teaches in the Honors Collegium in the College of Letters and Science, and he also serves on the Honors Faculty Advisory Committee. The award will be presented to Professor Dell'Angelica at the Gilbert Honors Programs Spring Tea.

Congratulations to James Lake, UCLA Distinguished Professor of Molecular, Cell and Developmental Biology and Human Genetics, who was awarded the Darwin Wallace Medal for major research advances in evolutionary biology. He received the award on May 24 at the anniversary meeting of the Linnean Society of London.
More information about Professor Lake's recognition can be found in this UCLA Today article:

UCLA Human Genetics News 2010

In a recent LA Times edition, Stan Nelson, Professor In Residence & Co-Vice Chair of the Department of Human Genetics, and his wife Carrie Miceli, Faculty in Microbiology, Immunology, & Molecular Genetics, are featured in a very touching article about their personal fight against a lethal childhood illness. The article discusses Duchenne muscular dystrophy, the most common of childhood's lethal DNA-linked diseases. Their own son's diagnosis with Duchenne has led them to take new approaches in their scientific research toward finding treatment. They are opening a clinic this year for Duchenne muscular dystrophy, a disease that affects 1 in every 3,500 boys - including the couple's 9-year-old son Dylan.
The May 2, 2010 article is available:

Dr. Stephen Young will be awarded the 2010 Ernst Jung Medical Award in a ceremony in Hamburg, Germany, this May.

"The Ernst Jung Medical Award 2010, initiated in 1967 by the Hamburg merchant and ship owner Ernst Jung and awarded since 1976, is awarded for pioneering research in medicine. As one of the highest European research awards endowed with Euro 300,000, the prize goes (Euro 150.000 awarded to each person) to Prof. Stephen G. Young MD (Departments of Medicine and Human Genetics, University of California, Los Angeles) and Prof. Peter Carmeliet MD PhD (Vesalius Research Center, University of Leuven/Belgium).

Stephen G. Young receives the award in recognition of his pioneering research on the mechanisms of lipid metabolism, in particular the elucidation of genetic defects in apolipoproteins, triglyceride transport mechanisms, and the role of farnesylated prelamin A in progeria, whereas Peter Carmeliet is receives the award in recognition of his ground breaking work in genetically modified models of cardiovascular disease and thrombosis.

Past recipients of the Ernst Jung Medical Award have included Drs. Anthony S. Fauci, David D. Ho, Francis V. Chisari, Judah Folkman, and Stuart A. Lipton."

UCLA Human Genetics News 2009

In honor of the 50th Anniversary of the Journal of Lipid Research, Professor Karen Reue was selected as the "JLR Lecturer" for the 2009 Gordon Conference on Molecular and Cellular Biology of Lipids. The North American Vascular Biology Organization presented the 2009 Earl P. Benditt Award to Professor Jake Lusis. This award honors an individual who has made outstanding contributions to the understanding of vascular biology or pathology. Congratulations to Dr. Reue and Dr. Lusis!

Steve Horvath and Chiara Sabatti were recently promoted to the rank of Professor and Eleazar Eskin to Associate Professor. Congratulations!

Congratulations to Eleazar Eskin, UCLA Human Genetics and Computer Science Departments, who has received a 2009 Sloan Research Fellowship Award. Dr. Eskin will continue research on the development of methods for discovering the genetic basis of complex traits using inbred strains. The Alfred P. Sloan Foundation supports promising researchers early in their academic careers. Since 1955, 38 Sloan Research Fellows have gone on to win the Nobel Prize in their fields and 14 have received the Fields Medal, the top honor in mathematics.

The Doris Duke Charitable Foundation awarded Eric Vilain, Professor of Human Genetics, Pediatrics and Urology, a 2008 Distinguished Clinical Scientist Award. Dr. Vilain, one of six scientists to receive the prestigious award, will receive $1.5 million over five to seven years to research disorders of sexual development. The Distinguished Clinical Scientist Award recognizes outstanding leadership in clinical research and enables leading physician-scientists to continue bridging the crucial gap between biomedical research and clinical applications that improve human health.

UCLA Human Genetics News 2008

In honor of the 10th anniversary of the Gonda (Goldschmied) Neuroscience and Genetics Research Center, the Department of Human Genetics, the Department of Pediatrics, and the UCLA Brain Research Institute sponsored an all day symposium "Progress in Understanding Genetic Diseases" on September 26, 2008. Talks were given by Edward R.B. McCabe, Katrina Dipple, Eric Vilain, Stanley Nelson, Daniel Geschwind, Ming Guo, Karen Reue and Paivi Pajukanta. A special luncheon honoring the Gonda family featured a presentation by Linda Liau.

Congratulations to Guoping Fan who has been appointed to a three-year term as the Carol Moss Spivak Scholar in Neuroscience.

Katrina Dipple and Marc Suchard were recently promoted to the rank of Associate Professor and Linda McCabe to Adjunct Professor. Congratulations!

Marc Suchard has received a Research Gift from Microsoft Corporation to support his research in computational statistics. Dr. Suchard is Assistant Professor of Biomathematics, Biostatistics and Human Genetics. Congratulations!

The Sahlgrenska Academy, University of Gothenburg's Faculty of health sciences board, will award an Honorary Doctorate to Stephen G. Young on October 24, 2008. The academy's press release states, "Stephen G. Young has been appointed honorary doctor in Medicine for his exemplary dedication to doing research and training younger co-workers. His outstanding talents in communication and analysis are a source of inspiration to his colleagues at the Sahlgrenska Academy, and he has generously shared his expertise with others." Dr. Young, Professor of Medicine and Human Genetics, is well known for his research in the development of animal models to study disease. The full article is available at: http://www.sahlgrenska.gu.se/english/news_and_events/news/News_Detail/?contentId=805186&languageId=100001&disableRedirect

Congratulations to Marc Suchard, Assistant Professor of Human Genetics and Biomathematics, who is one of six UCLA faculty to receive a 2008 John Simon Guggenheim Memorial Foundation Fellowship. Guggenheim fellows are appointed on the basis of impressive achievement in the past and exceptional promise for future accomplishment. Since 1925 the John Simon Guggenheim Memorial Foundation has annually offered Fellowships to artists, scholars, and scientists in all fields. Article appears in UCLA Today Online, April 8, 2008 http://today.ucla.edu/news/080408_guggenheim_2008/

Dr. Edward McCabe, Professor of Pediatrics, Human Genetics and Bioengineering, Mattel Executive Endowed Chair of Pediatrics, Physician-in-Chief, Mattel Children's Hospital at UCLA, and co-director of UCLA Center for Society and Genetics, has been elected to serve as President of the American Society of Human Genetics in 2009. DNA: Promise and Peril, co-authored by Dr. McCabe and Dr. Linda McCabe, Adjunct Professor of Human Genetics and Pediatrics, has been published by University of California Press. Edward McCabe and Linda McCabe each received UCLA's 2007 Dean Eugene Weber Honors Collegium Distinguished Teaching Award. Congratulations!

Steve Horvath, Associate Professor of Human Genetics and Biostatistics, was elected to the "Hot 100" author list at BioMed Central in 2007. This list includes authors who have played a key role over the last two years, in supporting BioMed Central's open access journals, both by publishing research articles and by acting as peer reviewers.

Guoping Fan, Associate Professor of Human Genetics and a researcher with the Eli and Eydthe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, is senior corresponding author of a recently published article in Cell Stem Cell, February 7, 2008. The study demonstrates that DNA methylation is a unique regulator in parallel to many other important gene regulation mechanisms in controlling gene expression in undifferentiated mouse embryonic stem cells. A large scale mapping of DNA methylation in embryonic stem cells will pave the way for programming mouse and human embryonic stem cells into specific cells in adult tissues and organs by controlling the DNA methylation patterns. Authors include Shaun Fouse and Yin Shen, graduate students in the UCLA Department of Human Genetics.

The article is available at:

The FDA has recently approved the use of a new drug Kuran to treat patients with the rare genetic disorder phenylketonuria. The disease is caused by a deficiency of an enzyme which breaks down phenylalanine, an amino acid in food. Without the enzyme, the levels of the amino acid build up, causing damage. In an interview with The New York Times, Stephen Cederbaum, Professor of Human Genetics, and advisor to the drug company BioMarin Pharmaceutical, said this new treatment "will be life-changing for some patients." The drug will allow patients to eat and enjoy foods that have been restricted to them because of their condition.

Kuvan is the trade name for tetrahydrobiopterin (BH4), the natural co-factor for phenylalanine hydroxylase (PHA), the enzyme that is deficient in phenylketonuria (PKU) one of the most common inborn errors of metabolism. Patients with PKU have been treated with a phenylalanine-restricted diet for many years and develop with normal intelligence.

For many years we have known of patients who had elevated levels of blood phenylalanine, normal levels of PHA, but who were deficient in BH4 because of having inherited an inability to carry out one of the steps in the BH4 generating machinery of the body. More recently it was discovered that certain patients with normal levels of BH4 and having PKU, had mutations whose protein products were stabilized by BH4 acting primarily as a molecular chaperone. This minority of PKU patients are candidates for BH4 therapy either alone or along with the very effective dietary therapy that has been available for nearly 50 years.

It is likely, but not yet proven, that patients with PKU whose levels of phenylalanine are controlled with BH4 will develop as well as those treated by diet. Longitudinal studies will demonstrate whether or not this is in fact the case.

The Dec. 14, 2007 article is available:

UCLA Human Genetics News 2007

Eleazar Eskin, Assistant Professor of Human Genetics and Computer Science, and student Hyun Min Kang were two of the collaborators on the "Mouse Genome Resequencing and SNP Discovery Project" which appeared in the Advance Online Publication section of Nature, July 29, 2007. The extensive study, a mouse haplotype map of 15 mouse strains, will be a dynamic tool for researchers in studying susceptibility factors to environmental disease. The report was conducted by the National Institute of Environmental Health Sciences (NIEHS), part of the National Institutes of Health, and Perlegen Sciences, Inc. of Mountain View California.

NIH press release:

Esteban Dell'Angelica, Guoping Fan, and Paivi Pajukanta were recently promoted to the rank of Associate Professor and Jeanette Papp to Adjunct Associate Professor. Janet Sinsheimer and Eric Vilain have been promoted to the rank of Professor and Rita Cantor to Professor in Residence.

Congratulations to Marc Suchard, Assistant Professor of Human Genetics and Biomathematics, who has received a prestigious 2007 Sloan Research Fellowship Award. This award is given annually to promising young researchers in the fields of chemistry, computational and evolutionary molecular biology, computer science, economics, mathematics, neuroscience, and physics. Dr. Suchard will continue his research in statistical phylogenetics and development of novel methods to understand infectious diseases.

Guoping Fan, assistant professor of Human Genetics, was recently awarded one of two grants, which total more than $5 million dollars, from the state of California to the UCLA Institute of Cell Biology and Medicine. Dr. Fan will study neural cell repair; "We hope our study will pave the way for the future use of human embryonic stem cell-derived nerve cells in the clinical treatment of nerve injury and neurodegenerative diseases such as stroke and Parkinson's disease." Owen Witte, Director of the Institute for Stem Cell Biology and Medicine at UCLA commented, "These grants are given to scientists with a record of accomplishment in stem cell research, and I'm proud to have two ISCBM researchers among the grant winners, which represent the top scientists in California." Jerome Zack, associate director of the UCLA AIDS Institute, received the second grant to study therapeutic strategies targeting HIV.

The online Brain Tumor Research Portal elected "Analysis of Oncogenic Signaling Networks in Glioblastoma Identifies ASPM as a Novel Molecular Target," as the second most influential brain tumor publication in the year 2006. This collaboration included UCLA Department of Human Genetics members Steve Horvath, Bin Zhang, Marc Carlson, Kan Lu, Shaojun Zhu, Wei Zhao, Qiping Shu, Zugen Chen, Yohan Lee, Daniel Geschwind, and Stanley Nelson; authors also included UCLA's Paul Mischel, Linda Liau, Hong Wu, Phillipp Febbo, Harley Kornblum, Timothy Cloughesy and non-UCLA collaborators Ramon Felciano, Megan Laurance, Adrienne Scheck. Glioblastoma is the most common primary malignant brain tumor of adults and one of the most lethal of all cancers. Patients with this disease have a median survival of 15 months from the time of diagnosis despite surgery, radiation and chemotherapy. New treatment approaches and molecular targets are urgently sought. In this study, the UCLA team used a novel systems biologic analysis method (weighted gene co-expression network analysis, WGCNA) to identify several molecular targets. One of the most promising targets was the ASPM (abnormal spindle-like microcephaly associated) gene. ASPM inhibition by siRNA-mediated knockdown was shown to inhibit tumor cell proliferation and neural stem cell proliferation, supporting ASPM as a potential molecular target in glioblastoma.

Full text of the article is available at:

UCLA Human Genetics professors Daniel Geschwind, Rita Cantor, and Stanley Nelson, participated in the Autism Genome Project, a large international consortium, coordinated by Autism Speaks, which identified two possible genetic links to autism. Daniel Geschwind, chief scientific adviser of the Autism Genetic Research Exchange, the most extensive pool of genetic data for the study of autism, commented, "We meet, combine samples, and do joint analyses. It's large studies like this that are going to help us understand what the genetic architecture and landscape of autism is." On Ivanhoe Broadcast News, Rita Cantor commented, "It's unprecedented to have such a large group of families, and I think this is just a very promising beginning."

"A Powerful New Tool"
"Roots of Autism More Complex than Thought"
"Autism Genes Found"

Past doctoral students of Kenneth Lange, Chair of Human Genetics at UCLA, presented their recent research at the Computational Genetics Symposium, held in his honor on February 9, 2007 at UCLA. Speakers included Michael Boehnke, Professor of Biostatistics, University of Michigan; Ruzong Fan, Associate Professor of Statistics, Texas A&M University; Neil Risch, Director of the Institute for Human Genetics, University of California, San Francisco; Laura Lazzeroni, Associate Professor of Psychiatry and Behavioral Sciences, Stanford University; Eric Schadt, Senior Scientific Director, Rosetta Inpharmatics; David Hunter, Associate Professor of Statistics, Penn State University; Daniel Weeks, Professor of Human Genetics and Biostatistics, University of Pittsburgh; and Eric Sobel, Adjunct Professor of Human Genetics, UCLA. The symposium was coordinated by Chiara Sabatti and Janet Sinsheimer of UCLA Human Genetics.

UCLA Human Genetics News 2006

Taking autopsied brain tissue from humans and chimps, graduate student Mike Oldham and Human Genetics faculty members Dan Geschwind and Steve Horvath identified gene networks in various brain regions that work very differently in humans and chimps - especially in the brain's most highly evolved region, the cerebral cortex. Standard genetic techniques allow scientists to look at gene expression levels, which genes are activated and which are not. Scientists compare these activity levels in different species to come up with a percentage of genes shared. However, the latest technique, developed by Dr. Horvath, allows scientists to see how these genes interact in a network. Dr. Geschwind likens this approach to analyzing an airline map with cities and routes. "This method tells us which cities are most important," Geschwind says. "The standard way - identifying genes one by one - gives you a lot less information than looking at the network of genes working together in the same neighborhood." The Proceedings of the National Academy of Sciences published the study in its October 13, 2006 online edition. The article was published in Neurology Today, December 19, 2006. CBS2.com, City News Service and Xinhua News (China) also reported the findings.
"Gene Networks Uniques to Human Brains Shed Light on Evolutionary Divergence from Chimpanzees"
"Chimpanzee and Human Genes Studied"
"UCLA Scientists Use New Method in Brain Study"

Congratulations to Dr. David Rimoin who received the inaugural Leadership Award from the American Society of Human Genetics at the society's conference in New Orleans, on October 12, 2006. Dr. Rimoin is Professor of Pediatrics, Medicine and Human Genetics, David Geffen School of Medicine at UCLA, director of the Intercampus Medical Genetics Training Program, director of the Medical Genetics Institute and holds the Steven Spielberg Chair at Cedars-Sinai Medical Center. Dr. Rimoin founded the American Board of Medical Genetics and the American College of Medical Genetics, which establish accreditation and certification standards for the training of medical geneticists. He is honored for his numerous contributions to the field of genetics.
"One Geneticist's Story"

In the UCLA Today newsletter, October 10, 2006, Dr. Edward McCabe discusses the Oral History of Human Genetics Project launched at UCLA in 2001. Dr. McCabe is Professor of Pediatrics and Human Genetics, Physician-in-Chief, Mattel Children's Hospital at UCLA, and co-director of UCLA Center for Society and Genetics. The oral history website features interviews with leading geneticists and is an invaluable resource. The American Society of Human Genetics, the National Human Genome Research Initiative, and the National Science Foundation have contributed to the program's funding.
"Chronicling the Genetics Revolution"
The Oral History of Human Genetics

In the New York Times Magazine, September 24, 2006, Dr. Eric Vilain, Chief of Medical Genetics at UCLA and Associate Professor of Human Genetics, Pediatrics and Urology, comments on the subject of intersex. He argues that it is not just X and Y chromosomes but many factors that determine an individual's sex.
"What If It's (Sort of) a Boy and (Sort of) a Girl?"

Dr. Eric Vilain was quoted in the Ventura County Star, September 17, 2006, on his research in sex determination. Vilain says, "There are a number of characteristics (genitalia, hormone levels, chromosomes, genes) that are statistically more feminine or more masculine, but for one individual, none of these measures can define gender. Gender comes from within and is a self-identification."
"The World Between"

In Neuron, September 7, 2006, UCLA colleagues, including Dr. Stanislav Karsten, Assistant Researcher of Neurology, Dr. Daniel Geschwind, Professor of Neurology and Human Genetics, and Dr. George Jackson, Professor of Neurology, report that puromycin-sensitive aminopeptidase (PSA) may be a key protective agent in the prevention of brain cell deterioration that characterizes diseases such as Alzheimer's. They used two genetic screening techniques, one based on microarray studies in the mouse and the other based on genetic screening in the fly, to identify genes that modify neurodegeneration caused by tau, which is a major component of alzheimer disease pathology. One gene they identified, the puromycin sensitive aminopeptidase, is a novel tau peptidase, analogous to the role of beta secretase in amyloid cleavage. The study presents the hope that someday drug therapies could promote this mechanism. The article was reported in many media sources including:
"Natural Protective Mechanism Against Neuronal Death in Alzheimer's Found"
"Untangling A Pathology of Alzheimer's"
"Paper Alert: Nipping Tau Tangles in the Bud"

Roel Ophoff, Assistant Professor of Human Genetics, was recently awarded a grant of $3.8 million by the NIMH to study schizophrenia through an analysis of the human genome. "This genome-wide study is a radical departure from previous disease-association research, which focused on a single gene or a limited number of positions on the chromosome based on a small sample," Ophoff commented. The research, in collaboration with Universty Medical Center Utrecht, Netherlands, hopes to identify the genetic basis for schizophrenia, which will lead to better diagnostics and therapies. "UCLA Receives $3.8M for Schizophrenia Study"
"Grant Will Be Used to Fund Four-year Genetic Study of Schizophrenia"
"UCLA Scientist Awarded $3.8 Million Grant for International Study to Identify Genetic Links to Schizophrenia"

The October 2006 issue of The American Journal of Human Genetics features a report on the link of HLA-B, an immune system gene, to the increased risk of a female child developing schizophrenia, when the child's HLA-B genotype is too similar to that of the mother. Christina Palmer, Associate Professor in Human Genetics and Psychiatry, co-authored the paper with Hsin-Ju Hsieh, Elaine Reed, Janet Sinsheimer, Associate Professor in Human Genetics, Biomathematics and Biostatistics, J. Arthur Woodward, Jouko Lonnqvist and Leena Peltonen. http://www.newsroom.ucla.edu/page.asp?RelNum=7304
"Mom-to-Daughter Gene May Help Spur Schizophrenia"

Congratulations to Steve Horvath, York Marahrens, and Chiara Sabatti on their recent promotions to the tenured rank of Associate Professor and to Eric Sobel for his promotion to Adjunct Professor.

In Readers Digest, August 2006, Dr. Wayne Grody, director of the UCLA Molecular Diagnostics Laboratory, commented on gene patenting by private companies and legal battles over gene ownership which impede access to clinical testing. Dr. Grody's own testing on deafness in children came to a halt when a private company enforced its patent on the connexin-26 gene, claiming exclusive rights to the gene and charging prohibitive royalties for the right to perform testing.
"They Own Your Body"

In the online journal Human Molecular Genetics, Dr. Guoping Fan, Assistant Professor, Department of Human Genetics, and senior author of a new report released by the Institute for Stem Cell Biology and Medicine at UCLA, commented on the three year study which produced neural stem cells from federally approved embryonic stem cell lines. This research hopes to develop transplantation cells that will someday cure diseases such as Parkinson's and Alzheimer's. "This study is a very important first step in looking at the differentiation process in neural stem cells," said Fan. "Now we have a direct measurement of the types of cells that eventually, we hope, will be used for transplantation."
"New Study Hopeful on Neural Stem Cells"
"Federally Approved Human Embryonic Stems Inferior to those Donated for Research"
"Neural stem cells derived from human embryonic stem cells carry abnormal gene expression"

Dr. Edward McCabe, Professor of Pediatrics and Human Genetics, Physician-in-Chief, Mattel Children's Hospital at UCLA, and co-director of UCLA Center for Society and Genetics, discusses important issues to consider before choosing a genetic test, in The Washington Diplomat, August 2006.
"Test of a Lifetime"

Steve Horvath, Associate Professor of Human Genetics and Biostatistics, and Angela Presson, graduate student in Statistics, recently won the $1,000 award for "Best Presentation" at the Critical Assessment of Microarray Data Analysis (CAMDA) Conference, June 7-9, 2006, at Duke University. The presentation discussed the results reported in "Integration of Genetic and Genomic Approaches for the Analysis of Chronic Fatigue Syndrome Implicates Forkhead Box N1," co-authored by Angela Presson, Eric Sobel, Jeanette Papp, Aldons J. Lusis, and Steve Horvath. Sobel, Papp and Lusis are also faculty in the UCLA Department of Human Genetics.

Marc Suchard, Assistant Professor of Human Genetics and Biomathematics, and student Ben Redelings, won the Mitchell Prize for the paper "Joint Bayesian Estimation of Alignment and Phylogeny," Systematic Biology (2005) 54:401-418. Co-sponsored by the American Statistical Association and the International Society for Bayesian Analysis, the $1000 prize recognizes an outstanding paper that describes the solution, by Bayesian statistical analysis, of a significant applied problem. The award will be presented in June at the 8th Valencia Meeting on Bayesian Statistics, Benidorm, Spain.

On KPCC 89.3 FM's "Air Talk" on April 18, 2006, Dr. Edward McCabe discussed the legal and ethical issues of research involving donor samples. Dr. McCabe is chairman of the UCLA Department of Pediatrics, Mattel Endowed Executive Professor of Pediatrics, professor in the Department of Human Genetics and co-director of the UCLA Center for Society and Genetics.
"Do You Know Where Your DNA Is?"

Dr. Wayne Grody, Departments of Pathology, Pediatrics and Human Genetics at UCLA, and director of the UCLA Molecular Diagnostic Laboratory, was recently appointed to serve as chair of the Genomic Medicine Program Advisory Committee by the U.S. Department of Veterans Affairs. The committee will help the government establish guidelines for the use of genetic information in the medical treatment of veterans.

Dr. Grody recently commented on informed consent in research and the issue of individual ownership of patient samples in The New York Times Magazine, April 16, 2006.
"Taking the Least of You"

In The (London) Guardian, April 18, 2006, Dr. Grody was quoted on his sideline as a science consultant for movies and TV. His credits include "The Nutty Professor," featuring Eddie Murphy, and the TV drama "Chicago Hope;" he says, "It's fun and it gets me out of the lab."
"Putting the Science in Fiction"

Dr. Stephen Young, Professor of Medicine and Human Genetics, and Dr. Loren Fong, Associate Professor of Medicine, co-authored research which revealed encouraging insights into a possible treatment for some aspects of progeria, a rare genetic aging disease occurring in children. Drs. Young and Fong generated a gene-targeted mouse model of progeria. Mice with progeria showed improvements in body weight, bone integrity, grip strength and survival, when treated with farnesyltransferase inhibitor (FTI), an experimental drug used in the treatment of some cancers. The article appeared in the February 16, 2006 online issue of Science. Media coverage includes the following:
"Cancer Drug Treats Early Aging"
"Cancer Drug Fights Premature Aging Disease in Mice"
"Fresh Hope for Hayley in Pioneering Experiment with New Cancer Drug"
"Progeria Mice Show Improvements with FTI Treatment"

Dr. Eric Vilain, his research team, Phoebe Dewing and Charleston Chiang, and several UCLA collaborators including Marie Francoise Chesselet and Paul Micevych, determined that Sry proteins previously thought to only be associated with the development of the gonads and the making of a male fetus are also involved with brain cells that produce tyrosine hydroxylase (TH) which synthesizes dopamine, a key neurotransmitter controlling certain motor activities. The study gives a molecular clue on why diseases like Parkinsons occur more in males than in females. Dr. Vilain commented, "It was a big surprise. I was expecting Sry to have more to do with a region involved in sexual behavior, like the hypothalamus, than a region involved in motor control," and added that "We repeated it many times to be sure." The article appeared in Current Biology, February 21, 2006, and was reported in many media sources including:

The research of postdoc, Sven Bocklandt, and Human Genetics faculty Eric Vilain and Steve Horvath, in collaboration with Dean Hamer (NIH) has recently been published in the February 2006 issue of Human Genetics. The work suggests that the inactivation of one of two X chromosomes which a mother passes genetically to a child, may be involved in the determination of the child's sexual orientation. "When we looked at women who have gay kids, in those with more than one gay son, we saw a quarter of them inactivate the same X in virtually every cell we checked," Bocklandt said. "That's extremely unusual." The finding is reported in the following:
http://www.healthday.com/view.cfm?id=531088 http://www.advocate.com/news_detail_ektid25975.asp

Dr. Katrina Dipple, UCLA Assistant Professor of Human Genetics, was interviewed in TV Guide's Dec. 12-18 issue, on the likelihood of TV family members being related.

The January 2006 edition of Discover, the magazine's "Year in Science" edition, recognized research reported by the faculty and students in the Department of Human Genetics as among the top 100 science stories of 2005. Drs. Rita Cantor, Stan Nelson and Dan Geschwind and graduate students Jennifer Stone and Jackie Duvall identified a region of chromosome 17 very likely to harbor a gene contributing to the risk of developing autism by boys. The manuscript, published in The American Journal of Human Genetics, reports the first formal replication of the linkage of a chromosome region to autism. This research is the result of a series of investigations implicating chromosome 17 in autism, limiting the linkage finding to families with only affected boys and replicating the same linkage in boys. Such a specific replication is very rare in genetically complex disorders such as autism. Additional mapping in the families restricted the linked chromosome region to 17q21. This finding is referred to by Discover as "No. 52: New Secrets of the Genome Uncovered". The American Journal of Human Genetics article is available on page 1050: http://www.journals.uchicago.edu/AJHG/journal/contents/v76n6.html

Eric Vilain, Associate Professor of Human Genetics, presented a talk "Between a Man and a Woman" on January 19, 2006 at Oregon State University, Corvallis, Oregon. The lecture was part of the 2005-06 Horning Lecture Series, on "Marriage, Reproduction and Sexuality". "Who we are, male or female, is profoundly imprinted in us," Vilain said. "If there is any variation, it can generate fear of the unknown, or of people who are different." Vilain's research in the area of intersexuality focuses on identifying genes involved in sex determination. The full article appears in The Corvallis Gazette-Times: http://www.gazettetimes.com/articles/2006/01/20/news/community/friloc05.txt