Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD

We will describe GeneMatcher and its functions. The way it works best and how it is different from the other matching databases. We will discuss the GeneMatcher statistics and what lessons can be learnt from them. We will also explore the connection of GeneMatcher to the other matching databases through Matchemaker Exchange.

Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Nara L. M. Sobreira, MD, PhD | Presenter

Dr. Nara Sobreira earned her M.D. at the University of Pernambuco in Brazil. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins School of Medicine. She is currently an Assistant Professor of Pediatrics at Johns Hopkins with primary interest on rare Mendelian phenotypes and analysis of next-generation sequencing. Her clinical and research focus is on identifying the molecular basis of phenotypes associated to cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome) and understanding the physiopathology of these phenotypes to investigate ways to treat them. In the last 5 years Dr. Sobreira has been part of the Baylor-Hopkins Center for Mendelian Genomics and has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing.

Dr. Sobreira participated on the development of PhenoDB, a phenotypic and genomic database and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher and one of the founders of the Matchmaker Exchange, both intended to share next-generation sequencing data. Dr. Sobreira is Board Certified by the Brazilian Board of Medical Genetics and by the American Board of Medical Genetics and Genomics. She has published numerous peer-reviewed journal articles and book chapters.

Deepali Shinde, PhD | Moderator

Deepali received her Ph.D. in Molecular Biology from the University of Southern California in Los Angeles where her research involved the study of microsatellite repeat mutations in neurological disorders and SNPs in paternal age related disorders. Following postdoctoral work at the Keck Graduate Institute in Claremont, CA to develop assays for point-of-care tuberculosis detection in limited resource settings, she worked at Applied BioCode Inc. in Santa Fe Springs, CA as a Senior Scientist to develop multiplex PCR-based infectious disease diagnostic assays. At Ambry, Deepali is involved in the analysis of critical scientific evidence to support the clinical reporting of variants in novel Mendelian disease genes identified via whole exome sequencing. She is an active participant in Ambry’s data sharing efforts and collaborates with scientists across the globe to publish novel findings in high impact peer-reviewed scientific journals as part of Ambry’s commitment to patient care and advancement of scientific research.