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Payal Khincha Appointed Physician-Scientist Early Investigator

Payal Khincha, M.B.B.S., M.S.H.S., was appointed physician-scientist early investigator in the Clinical Genetics Branch (CGB) in Spring 2020. Dr. Khincha studies diagnostic methods and clinical management of inherited cancer predisposition syndromes, including dyskeratosis congenita (DC), Diamond Blackfan Anemia, and Li-Fraumeni Syndrome (LFS). In her new role, she will build an independent research program investigating the genetic and clinical epidemiology of individuals with LFS.

Dr. Khincha joined CGB in 2012 as a clinical collaborator to complete the research component of her pediatric hematology-oncology fellowship at Children’s National Medical Center, Washington D.C. She became a clinical fellow in CGB in 2014 and was promoted to staff clinician in 2017. Over the past several years, Dr. Khincha has made seminal research contributions focused on the clinical evaluation of inherited bone marrow failure syndromes and telomere biology disorders. She led a multi-institutional study of DC, a rare bone marrow failure disorder, that recognized pulmonary vascular malformation as a novel clinical feature and was the first to identify adverse effects of specific treatments for DC and associated abnormalities of lipid metabolism in these patients. She authored a chapter in the first book to describe guidelines for the diagnosis and management of DC patients (Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines).

Since 2018, Dr. Khincha has served as the principal investigator for the LFS Study, which aims to characterize the clinical and molecular effects of the rare, autosomal dominant inherited disorder. Dr. Khincha’s studies have led to multiple publications strongly supporting the need for LFS patients to receive comprehensive cancer screening. She led the first study to evaluate reproductive factors and breast cancer risk in women with LFS, which found that breastfeeding for at least seven months was associated with a 43 percent reduction in breast cancer risk. In addition, she and Dr. Christina Annunziata in the Center for Cancer Research were recognized with a CCR-DCEG Flex Award for a clinical trial, currently under development, of metformin as a chemopreventive agent in patients at extremely high risk of cancer due to an inherited mutation in TP53.

As a physician-scientist early investigator, Dr. Khincha aims to identify correlations of cancer with specific TP53 mutation types in individuals with LFS, assess the effectiveness of cancer surveillance on individuals and families with LFS, and determine if changes in mitochondrial function caused by use of metformin is associated with cancer incidence in the LFS population.

Dr. Khincha earned her medical M.B.B.S. degree from the Kempegowda Institute of Medical Sciences, India. She completed a pediatric residency at Maimonides Medical Center, New York, as well as a fellowship in pediatric hematology-oncology at Children’s National Medical Center, Washington, D.C. She further completed an M.S.H.S. in Clinical and Translational Research at George Washington University, Washington, D.C. 

The Physician-Scientist Early Investigator Program is part of the DCEG-CCR collaboration formerly known as the Clinical Investigator Development Program which appointed Assistant Clinical Investigators (ACI). It is a primary research and mentoring program designed for clinical investigators in the critical transition period between clinical fellowship and scientific independence.

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