David Geffen School of Medicine at UCLA
Department of Human Genetics

Speaker Series - Spring Quarter 2013

Mondays, 11am - 12pm, Gonda Building First Floor Conference Room, 1357

Mon, Apr 08
Human functional genomics in the post GWAS era: Case study for atrial fibrillation
Jonathan Smith, Ph.D., Professor of Molecular Medicine, Cleveland Clinic Lerner College of Medicine
Contact & Intro: Paivi Pajukanta, x72001
Mon, Apr 15
Leveraging human epigenome mapping for disease genomic studies
Tomi Pastinen, MD, Ph.D., Associate Professor, Canada Research Chair in Human Genomics, Departments of Human and Medical Genetics, McGill University and Genome Quebec Innovation Centre
Contact & Intro: Paivi Pajukanta, x72011
Mon, Apr 22
Functional characterization of gene regulatory elements
Nadav Ahituv, PhD, Department of Bioengineering and Therapeutic Sciences and Institute for Human Genetics, University of California San Francisco
Contact & Intro: Katrina Dipple, x51997
View details »

ABSTRACT: Research in our laboratory focuses on understanding the role of regulatory sequences in human biology and disease. Through a combination of comparative genomic strategies, massively parallel sequencing technologies, regulatory element analysis, human patient samples, and mouse and fish genetic engineering technologies, we are working to elucidate mechanisms whereby genetic variation within these sequences lead to specific phenotypes. In addition, by both deconstructing known regulatory elements and constructing de novo ones, we are attempting to gain a better understanding of the regulatory code. To this end, we are also developing technologies that can provide the ability to rapidly test thousands of different DNA sequences for their regulatory activity through massively parallel reporter assays.

Mon, May 06
Roles of PtdIns(3,5)P2 and PtdIns5P: lipids with links to neurodegenerative diseases
Lois Weisman, Pd.D., Professor of Cell and Developmental Biology, Research Professor in the Life Sciences Institute, University of Michigan
Contact & Intro: Esteban Dell'Angelica, x63749
Mon, May 20
Insulin processing and secretion genes, variants, and mechanisms
Karen Mohlke, Ph.D., Associate Professor of Genetics, University of North Carolina
Contact & Intro: Jake Lusis, x51359
Mon, Jun 10
Biomarker studies for male and female reproductive health
Maris Laan , Ph.D., Professor, Institute of Molecular and Cell Biology, Biology and Geography, University of Tartu, Estonia
Contact & Intro: Elin Org, eorg@mednet.ucla.edu
View details »

ABSTRACT: The current focus in our research team at the University of Tartu, Estonia is to find novel genetic and serum-based biomarkers relevant to the timely evaluation of male and female reproductive health, and the course of pregnancy. So far, aiming to identify genetic determinants of female and male reproductive disorders, hundreds of DNA variants in pre-selected candidate genes have been studied, but only few exhibit potential diagnostic value in reproductive biomedicine1. Similarly to genetic studies, biochemical biomarker research in pregnancy complications has been mostly based on pre-selected serum/plasma markers. In the seminar I discuss our discovery of the FSHB -211 G/T polymorphism as the main genetic determinant of male serum FSH and its effect on downstream male reproductive parameters and fertility2, as well as our investigations of placental transcriptome dynamics3 to pinpoint novel potential biomarkers for early (recurrent miscarriage, ectopic pregnancy) and late (preeclampsia, gestational diabetes, affected fetal growth) pregnancy complications.

Mon, Jun 17
Alternative splicing in obesity and type 2 diabetes
Jussi Pihlajamäki, MD, PhD, Professor in Clinical Nutrition, University of Eastern Finland
Contact & Intro: Paivi Pajukanta, PPajukanta@mednet.ucla.edu

Previous Quarters