Welcome to the Joint Academic Retreat of the

UCLA Department of Human Genetics
UCLA Intercampus Medical Genetics Fellowship

Friday October 10, 2014
UCLA Faculty Center (Map)

This year we will be celebrating the exceptional career of Prof. Elizabeth Neufeld.
Dr. Neufeld has received the highest honors for her seminal work on the molecular basis of metabolic disease in humans, including the National Medal of Science and the Lasker Prize. She co-founded the UCLA Intercampus Medical Genetics Program with David L. Rimoin.

The Keynote speaker for this event will be Dr. Ellen Sidransky, M.D., Chief, Section of Molecular Neurogenetics Medical Genetics Branch, at the NIH/National Human Genome Research Institute. She is also on the Faculty at Johns Hopkins. Dr. Sidransky is an expert on the genetic and phenotypic variability of the metabolic disorder Gaucher disease and was involved in the seminal discovery of the link between Gaucher and Parkinson.

The full-day program will also include presentations by faculty and trainees of the Human Genetics department and the Intercampus Fellowship, a wine-and-cheese poster session, as well as a session designed to share stories about Dr. Neufeld's career.

Every student and post-doctoral fellow of the department and fellow in the Intercampus Program is expected to submit an abstract by September 17, 2014 and present a poster to showcase human genetics research in our community. Two abstracts from each program will be chosen for oral presentations. One trainee of the UCLA Human Genetics Department will receive the Leena Peltonen Award in Research Excellence at UCLA. One trainee of the Intercampus Program will receive the David Rimoin Award for Research Excellence in Medical Genetics. Monetary prizes will be awarded to winners and finalists.

The event is open to the scientific community, with mandatory pre-registration. If you are a trainee of either program, please register and enter your abstract below by September 17, 2014. Others who plan to attend should register below by October 1, 2014.

If you have any questions, please contact the organizing committee: Emmanuèle Délot (Chair), Paivi Pajukanta, Stan Nelson, Rhona Shreck, Jenny Luna, and Anne Carson.

8:30 - 9:00 Continental Breakfast - California Room
9:00 - 9:10 Wayne Grody, M.D. Introduction
9:10 - 9:30 Jake Lusis, Ph.D. "Bugs in the Tummy, Genetics, and Chronic Diseases"
9:30 - 9:50 Patricia Dickson, M.D. "Saving Ryan: The Story of Enzyme Replacement Therapy for Mucopolysaccharidosis Type I"
9:50 - 10:10 Break
10:10 - 10:30 Jacob (Wes) Ulm,
Nelson Lab
"Online DuchenneConnect Self-Report Data Indicates Exon 44-Skippable DMD Patients Have Prolonged Wheelchair-Free Survival"
10:30 - 10:50 Jianling (Jenny) Ji,
Quintero Lab
"DYRK1A Haploinsufficiency Results in a New Recognizable Syndrome with Angelman-like Features, Congenital Microcephaly, Prenatal and Postnatal Growth Retardation, and a Distinct Facial Gestalt"
10:50 - 11:10 Rita Cantor, Ph.D. "Genetic Complexity of eQTL"
11:10 - 11:30 Leonid Kruglyak, Ph.D. "Using a Simple Model Organism to Unravel Missing Heritability of Complex Traits"
11:30 - 1:00 Lunch -
Hacienda & Sierra Rooms
1:00 - 1:50 Keynote Speaker
Ellen Sidransky, M.D.
"Gaucher Disease and Parkinsonism: An Evolving Story"
1:50 - 2:10 Jennifer Zieba,
UCLA HG Grad Student,
Krakow Lab
"Absence of FLNB Causes Vertebral Fusions Through Increased TGFβ/BMP Signaling and Etopic Ligament"
2:10 - 2:30 Alejandra Rodriguez,
UCLA HG Grad Student,
Pajukanta Lab
"Fine Mapping and Functional Analysis of Chromosome 18q11.2 Triglyceride Locus in Mexicans"
2:30 - 2:45 Break
2:45 - 3:05 Julian Martinez-Agosto, M.D., Ph.D. "Growth Signaling Pathways: From Fly Development to Human Disease"
3:05 - 3:45 MC: Stephen Cederbaum, M.D.
(with Elizabeth Neufeld, Lenny Rome, Katherine Ponder)
Tribute to Elizabeth Neufeld
3:45 Stan Nelson, M.D. Closing Remarks
4:00 - 5:30 Wine and Cheese -
Hacienda & Sierra Rooms
Posters and Awards


First Name:
Last Name:
Phone: (10 digit)

Abstract Submission:

Abstract Title:

Please specify your title
Abstract Text:
(350 words max)

If you have any questions or prefer to email your abstract, please contact Jenny Luna, mpluna@mednet.ucla.edu, Tel: +1-310-206-0920.