Meet our team

Leadership                                                                                           

Heidi RehmHeidi Rehm, PhD

Heidi is the co-director for the Broad Center for Mendelian Genomics. She is also the chief genomics officer of the Department of Medicine at Massachusetts General Hospital and a professor at Harvard Medical School. She built the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine and directed it until 2018. She is a strong advocate and pioneer of open science and data sharing through leadership roles in the Clinical Genome (ClinGen) Resource and the Global Alliance for Genomics and Health. 
Anne O'DonnellAnne O’Donnell-Luria, MD PhD
 
Anne is co-director for the Broad Center for Mendelian Genomics. She obtained her MD/PhD from Columbia University and is a board-certified clinical genetics and metabolism physician and pediatrician who sees patients at Boston Children's Hospital. Her current research focuses on the use of exome and genome sequence data to identify genetic variation in health and disease to improve rare disease diagnosis and better understand incomplete penetrance.

Michael E. Talkowski, PhD

Mike is the co-director for the Broad Center for Mendelian Genomics. He is also the Director of the Center for Genomic Medicine at Massachusetts General Hospital, Professor of Neurology at Harvard Medical School, and a Broad Institute Member. Mike leads a molecular and computational genomics research program that is focused on the discovery and characterization of genetic variation in human disease. He has made seminal contributions to understanding the relationship between the structure and function of the human genome and its relationship to neurodevelopmental and neuropsychiatric disorders and rare Mendelian disorders.

Kaitlin Samocha, PhD

Kaitlin received her Ph.D. in Genetics and Genomics in 2016 from Harvard University under the supervision of Dr. Mark Daly. She trained as a postdoctoral fellow with Dr. Matthew Hurles at the Wellcome Sanger Institute and was a College Research Associate at St. John’s College, Cambridge. Kaitlin is an Assistant Professor in the Center for Genomic Medicine at Massachusetts General Hospital and an Associated Scientist at the Broad Institute. The focus of her research career has been on developing methods and statistical tools to improve the interpretation of genetic variation, particularly rare variation. This work has included a sequence-context based mutational model, frameworks to evaluate de novo (newly arising) variation, and metrics to quantify selective constraints against damaging variation.

Monica WojcikMonica Wojcik, MD
 
Monica is an attending neonatologist and geneticist at Boston Children's Hospital and an associate member of the Broad Institute. Her research focuses on equitable and effective implementation of genomic medicine, particularly for critically ill neonates as well as infants and children with rare diseases. She is the Neonatal Genomics Program director and co-director of the Fetal Precision Genetics program at Boston Children's Hospital. Monica received her AB in Chemistry from Princeton University in 2007 and her MD from Harvard Medical School. She subsequently completed pediatric residency training at the Boston Combined Residency Program and combined fellowship training in neonatal-perinatal medicine and medical genetics at Boston Children's Hospital/Harvard Medical School. She completed her MPH degree at the Harvard TH Chan School of Public Health with a focus on clinical effectiveness and health services research.

Samantha Baxter, MS, LGC

Sam is a licensed, board-certified genetic counselor and associate director of data sharing in the TGG. This role includes managing the operations for gnomAD, overseeing all of the data sharing activities for the Broad’s Center for Mendelian Genomics, and leading her team of variant curators.  As part of her ongoing research, she uses various curation processes to estimate the prevalence of rare disease in the global population.

Melanie O'Leary, MS, CGC

Melanie is the operations lead for the Rare Genomes Project and a principal clinical genomics specialist at the Broad Institute. She oversees the operational aspects of the project. She is a licensed, board-certified genetic counselor who has worked in a variety of clinical, research, and clinical laboratory

Christina Austin-Tse, PhD

Christina is the Analysis Team Lead for the CMG. She is also a board-certified molecular geneticist who holds additional positions as an Assistant Laboratory Director at the Broad Clinical Labs and Assistant Professor in Pathology at Massachusetts General Hospital and Harvard Medical School. Her clinical and research efforts focus on the application of genomic sequencing technologies to the diagnosis of rare Mendelian disease.


 

Project Management

Katie Larsson, PMP

Katie is a Senior Project Manager who oversees the CMG project management team. In addition to her role within TGG, she also helps to manage other consortium sequencing efforts including All of Us, GMKF, TOPMed, and previously CCDG.

stacey-hallStacey Hall

Stacey is a project coordinator for the Center for Mendelian Genomics and the Rare Genomes Project. She has a masters in public health and prior to working at the Broad she worked in clinical trials research and as a nursing assistant.

 

Alicia Pham

As a Project Coordinator, Alicia manages various operational aspects for the Rare Genomes Project and the Center for Mendelian Genomics. She has prior research experience working for a longitudinal research study and received her undergraduate degree in Health Science from Boston University.

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Analysis

Stephanie Parker DiTroiaStephanie Parker DiTroia, PhD

Stephanie is a Principal Genomic Analyst working to identify causal candidate genes/variants in rare disease exomes and genomes. Prior to joining the Broad, she studied epigenetics in fetal development at UCSF and worked in genomic research at the HudsonAlpha Institute for Biotechnology.
Lynn PaisLynn Pais, MS, LCGC
 
Lynn is a Principal Genomic Analyst who uses large-scale population databases and genomic tools to discover new genes underlying Mendelian diseases. She is also a board-certified pediatric genetic counselor and sees patients and families at Boston Children's Hospital.

Emily O'Heir

Emily is a Senior Genomic Analyst working to discover novel disease genes and identify causal variants in rare disease exomes and genomes. She works closely with research and clinical collaborators from around the world to analyze and interpret genomic data and ultimately help diagnose patients with Mendelian diseases. Prior to joining the Broad, she worked in clinical cytogenetics and genomics laboratories as part of her undergraduate training in diagnostic genetic sciences.

Ikeoluwa Osei-Owusu, PhD

Ike is a Clinical Genomic Analyst assessing the disease consequence of genomic variation in individuals and families with rare disease through analysis of their exomes and/or genomes. Studying autistic children with self-injurious behavior, she received her doctoral degree in human genetics from Johns Hopkins University School of Medicine.

Additional Staff

The Center for Mendelian Genomics is staffed by the Rare Disease Group within the Broad Translation Genomics Group (TGG)