Brigham Genomic Medicine Research

For Patients: To make a genetics clinic appointment unrelated to clinical research, please call: 617-525-8111. For more information, please see: Genetics & Genomic Medicine Clinic.

Brigham Genomic Medicine Research

Brigham Genomic Medicine (BGM) is composed of a broadly distributed team of BWH clinicians who ascertain and select appropriate cases, a state-of-the-art genomic sequence computational analysis pipeline, and an interdisciplinary gene discovery process that involves clinicians, bioinformaticians, and experimentalists working together on a regular basis to identify new genetic variants that cause human disease.

BGM has developed software, algorithms, and methodology for the effective analysis of WGS/WES data and for the discovery of the underlying genetic variants that cause Mendelian diseases.

Our inception came in 2012 when we won the CLARITY Challenge after engaging a large and dedicated team to work collaboratively on cases. BGM has gone on to solve BWH cases with mutations in PIEZO2 in musculo-skeletal contractures and respiratory disease, in LOX in familial aortic dissection, in complement factor C3 in distal acrocyanosis, in WISP3 in precocious arthritis, in XRCC5 in neuroendocrine tumor, and in CHST11 in T cell lymphoma with limb abnormalities among others.

BGM is also responsible for the analysis of genome sequencing data generated by the Harvard Undiagnosed Disease Network Clinical Site (Harvard UDN-CS) and by the Harvard Facebase2.

Once solved, cases offer fresh opportunities for gene discovery, disease pathway elucidation and for previously unrecognized therapeutic options. Please see our selected publications for several cases that illustrate our program.

We invite you to propose patients whom you think may benefit from our services. Please contact:

Victoria Perroni
BGM Program Coordinator
Phone: (617) 525-4704

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