Co-PI

Melissa Gilbert, PhD

Melissa's research interests lie in resolving uncertainty associated with DNA variants. She has spearheaded research efforts to design high-throughput functional assays and is active in associating results from these assays to improving clinical variant classification.

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gilbertma@chop.edu

Co-PI

Nancy Spinner, PhD, FACMG

Nancy is the Chief of the Division of Genomic Diagnostics at CHOP and is focused on improving clinical diagnostics through integrating new sequencing technologies with resolving protein function.

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spinner@chop.edu

Post-Doctoral Fellow

Kavitha Anbarasu, PhD

Kavitha is developing a liver organoid model to study the molecular mechanisms of JAG1 and NOTCH2 variants. 

Lab Manager

Mani Kaur, MS

Mani manages the day-to-day operations of the lab and coordinates everything from clinical sample acquisition and processing to performing research projects.

Research Technician

Ernest Keefer-Jacques, BS

Ernest is involved with many aspects of the lab. He has a particular interest in working on the high-throughput functional assays for JAG1.

UPenn Graduate Student

Valeria Sosa Vega

​NOTCH2 variant characterization.

Research Technician

Nicolette Valente

Nicolette is involved with many aspects of the lab. She has been working to carry out high-throughput functional assays.