Dr. Diskin is promoted!

Rebecca Kaufman


As things are ever-changing here at CHOP and in the CCCR, so too in the Diskin Lab. Dr. Diskin is overseeing the newly formed Center for Childhood Cancer Research Bioinformatics Core, a resource to be used by Cancer Center researchers to help analyze data sets. This is a collaborative effort between CCCR and the Department […]

Two new papers go live on the same day!

Dr. Sharon Diskin is featured for “Intelligence Meets Inspiration”

This month Dr. Diskin was featured alongside some other stand-out researchers and colleagues leading valuable work here at CHOP for a series celebrating women in STEM. Intelligence Meets Inspiration: Celebrating Women in STEM at CHOP Persevere, persist, and prioritize. These are some of the powerful words of wisdom that women in science at Children’s Hospital […]

New Pub: Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma

We are excited to announce Laura’s first research manuscript is online today in the American Journal of Human Genetics (AJHG)! In this genome-wide study of rare germline copy number variations (CNVs), we found that chromosome 16p11.2 microdeletion predisposes to neuroblastoma, with a much larger effect size than seen for common variants identified by GWAS.  This represents the culmination of nearly a decade of work to establish the numbers needed to definitively reach this conclusion in a relatively rare childhood cancer. The 16p11.2 deletion corresponds to a rare genetic syndrome associated with autism and other neurodevelopmental disorders. When parental DNA was available, the 550-kb deletion arose de novo in children diagnosed with neuroblastoma. It will be of interest to consider implications for genetic counseling for those diagnosed with 16p11.2 deletion syndrome, particularly given the diversity of phenotypes associated with the chromosomal deletion.   

To view the full report, please visit https://doi.org/10.1016/j.ajhg.2019.07.020

Full pdf is also available at the following Share Link: https://authors.elsevier.com/a/1ZgzkgeWuDj-

Rebecca Kaufman

Welcome, Rebecca!

Diskin Lab welcomes incoming Informatics Student Intern Rebecca Kaufman to the team!

Rebecca is currently pursuing her masters’ degree in Bioinformatics at Temple University, planning to complete her program and graduate in December. In the meantime, Rebecca is blending well into the team and lending us a hand wherever a computational need arises. We’re happy to have you join us, Rebecca!

Amber gives a talk at ASMS

Amber was selected to present her work entitled, “Integrative mass spectrometry, RNA-sequencing and ChIP-sequencing identifies DLK1 as an epigenetically regulated target in neuroblastoma,” as a talk at the 67th ASMS Conference on Mass Spectrometry and Allied Topics. The conference is an annual gathering for the American Society for Mass Spectrometry (ASMS) and was held this year in Atlanta, Georgia. Congrats, Amber!

Alex is a PhD Candidate

“Alex” Lobin Lee successfully passed his qualifying exams unconditionally and is therefore free to focus on his thesis work. This comes after months of preparation and is a critical step in the career of a graduate student. Congratulations, Alex!

Gonzalo Lopez

Goodbye Gonzalo

Gonzalo moves on to become a professor at Icahn School of Medicine.

Sharon Travels and Talks!

Dr. Diskin has been quite busy this Spring! In addition to her teaching GCB/CAMB 752 Seminar in Genomics, and leading her lab, she has been traveling all over speaking. Between the first week of March and early May, Sharon traveled to Washington DC, Frederick MD, San Francisco CA, Cambridge UK, and ending with Boston MA!