We are excited to welcome the newest member of the Lab: Meghna Singh, PhD!
Congratulations to Maria Palafox- an Honorable Mention for the NSF GRFP!!
Sping Quarter is Here! Welcome to the lab Leroy!
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 Josh and LeAnn!
Welcome to Josh Zhang and LeAnn Nguyen to the lab for their winter rotation! We are looking forward to having you rotate!
Congrats to our B.I.G. summer student, Ruth Adewale!
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!
Halloween fun with the Backus Lab!
Check out our new paper in AJHG
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
ASHG 2018!
Our KAT6A paper is online in Genetics in Medicine!
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
The lab is growing!
Kate Elliot, a talented undergraduate has joined the lab as a research technician!
Welcome Maria Palafox, Human Genetics Graduate Student!
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!
A belated congrats to the B.I.G. summer students!
The Scientist Magazine
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!
First paper as a PI, out the door!
Check out new work done by Malika Kumar Freund in the Bogdan lab!
Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits
Check out the preprint here: https://www.biorxiv.org/content/early/2018/05/17/324558
Rare Disease Day 2018
The lab is up and running!
Its been a long time coming, but the lab is up and running and ready to start some exciting experiments! Stay tuned!