Summer Time!

Its Summertime and a time of transition in the Arboleda Lab and reflecting on all our growth in the past 1.5 years.

We said good bye to my first technician, Albert who is off to graduate school! And we welcome to the lab some new people in new positions:: Laila Sathe as an SRA, Angela Wei as an SRA, and a rotation student from UCLA MSTP, Isabella Lin.

We are excited to have them working in the team!

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!

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