Its the start of a new quarter and its one of my favorite times of year— the weather is great, graduation excitement is near, and projects are ramping up!
This quarter, I am co-teaching Bioinformatics 202 with Jae Hoon Sul and Brent Fogal! We will working on a very important part of science communication— giving presentations !
We have a new rotation student in the lab: Leroy Bondhus! Welcome Leroy!
Welcome to Josh Zhang and LeAnn Nguyen to the lab for their winter rotation! We are looking forward to having you rotate!
Ruth presented her poster at the 2018 program at @ABRCMS in Indianapolis this fall! Well done, for one of our first B.I.G. Summer students!
Check out our paper on 'Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits'! We find that genes known to cause Mendelian disorders are specifically enriched near GWAS loci for related complex traits.
https://www.sciencedirect.com/science/article/pii/S0002929718302854?dgcid=author
Our work in collaboration with Dr. Joanna Kennedy and Dr. Ruth Newbury-Ecob is online in Genetics in Medicine. Its a fantastic international collaboration, with patient- , physician- and researcher-driven approach to studying rare disease. We find a genotype-phenotype correlation with disease severity, where late mutations (last two exons) have more significant symptoms. We identify rare missense mutations that cluster and cause the same clinical syndrome. Finally, our work provides clinical guidelines based on 76-patients with KAT6A syndrome based on systematic clinical evaluation. Access to full paper (no firewall) is here: https://rdcu.be/7zqR
Kate Elliot, a talented undergraduate has joined the lab as a research technician!
Maria is co-mentored by Dr. Keri Backus and will be exploring some novel work collaborative work bringing together genomics and chemical proteomics! A belated welcome to Maria!
https://www.the-scientist.com/?articles.view/articleNo/52377/title/Valerie-Arboleda-Uses-Big-Data-to-Unravel-the-Biology-of-a-Rare-Disease/
See a new feature for our lab in The Scientist Magazine!
Check out the preprint here: https://www.biorxiv.org/content/early/2018/05/17/324558
Its been a long time coming, but the lab is up and running and ready to start some exciting experiments! Stay tuned!
David Geffen School of Medicine, UCLA
Department of Pathology and Laboratory Medicine
615 Charles E. Young Drive South
lab: BSRB 346
Los Angeles, CA 90095
Map
We are looking for highly motivated and enthusiastic postdocs, graduate students, and undergraduates. Please see our Opportunities page or contact Valerie by email if you are interested in joining the lab.
