Joan Stoler, MD – Boston Children’s Hospital
Program Director; Residency Director; Site Director, Boston Children’s Hospital
Dr. Stoler is a clinical geneticist at Children’s Hospital Boston and Assistant Professor of Pediatrics at Harvard Medical School. She is board certified in pediatrics and clinical genetics. She has evaluated and followed many patients over the last eighteen years, both adults and children with connective tissue disorders, such as Marfan syndrome and Ehlers Danlos syndrome. She has been a co-investigator on a study of mitral valve prolapse in Marfan syndrome and written an article on chronic pain in Ehlers Danlos Syndrome.
Gerard T. Berry, MD – Boston Children’s Hospital
Director, Medical Biochemical Genetics Residency; Co-Director, Clinical Biochemical Genetics Fellowship
Gerard T. Berry, M.D. is co-director of the Clinical Biochemical Genetics program and director of the Medical Biochemical Genetics program. Dr. Berry specializes in biochemical genetics (metabolism). He is the Director of the Metabolism Program at Children’s Hospital Boston and Professor of Pediatrics at Harvard Medical School. Dr. Berry holds Board Certifications in Pediatrics, Biochemical Genetics, and Pediatric Endocrinology.
Aya Abu-El-Haija, MD
Dr. Aya Abu-El-Haija is an attending physician in the Division of Genetics and Genomics at Boston Children’s Hospital. She completed her Medical Genetics fellowship from the University of California San Francisco. She did her Pediatrics residency at University of Medicine and Dentistry of New Jersey (Rutgers). Dr. Haija has a great interest and expertise in the various genetic syndromes, chromosomal deletions or duplications, single gene disorders, developmental delays, congenital birth defect, learning disability, overgrowth syndromes, and has particular interest in the various tumor predisposition syndromes. Dr. Haija is enthusiastic to see patients from various race/ethnic backgrounds, is bilingual in Arabic and English, and has some Spanish and French knowledge.
Walla Al-Hertani, MD – Boston Children’s Hospital
Dr. Walla Al-Hertani is a Medical Biochemical Geneticist and a Clinical Geneticist with expertise in inborn errors of metabolism (IEMs) and a special interest in Lysosomal Storage Diseases and Glycogen Storage Diseases. Dr. Al-Hertani received her Doctor of Medicine degree from Dalhousie University in Halifax, Nova Scotia, followed by the completion of a Clinical Genetics residency at the University of Ottawa and a Medical Biochemical Genetics fellowship at the Hospital for Sick Children (SickKids) and the University of Toronto. Dr. Al-Hertani practiced as a Medical Biochemical Geneticist and a Clinical Geneticist at the Montreal Children’s Hospital and McGill University, followed by the Alberta Children’s Hospital in Calgary, Canada before relocating to Boston. Dr. Al-Hertani is currently the Director of the Boston Children’s Lysosomal Disease (BoLD) Program and is actively involved in a number of clinical trials investigating innovative therapies for IEMs and rare diseases.
Frederick Bieber, PhD – Brigham and Women’s Hospital
Cytogenetics
Frederick Bieber, PhD is faculty at Brigham and Women’s Hospital.
Olaf Bodamer, MD, PhD
Gerald Cox, MD – Boston Children’s Hospital
Clinical Genetics
Gerald Cox is faculty at Boston Children’s Hospital.
Paola Dal Cin, PhD – Brigham and Women’s Hospital
Cytogenetics
Paola Dal Cin, PhD is faculty at Brigham and Women’s Hospital
Millie Anne Ferrés, MD – Beth Israel Deaconess Medical Center
Board certified in Obstetrics and Gynecology, Maternal Fetal Medicine and Medical Genetics. Dr. Ferrés is a physician in the Department of Obstetrics and Gynecology at Harvard Medical Faculty Physicians at Beth Israel Deaconess Medical Center and an Instructor in Obstetrics and Reproductive Biology at Harvard Medical School. She is the Assistant Director of the Maternal Fetal Medicine/Medical Genetics combined training program at Beth Israel Deaconess Medical Center working along with Dr. Barbara O’Brien and Dr. Joan Stoler, and is the Site Director for the HMSGTP Prenatal Genetics rotation.
Barbara M. O’Brien MD – Beth Israel Deaconess Medical Center
Board certified in Obstetrics and Gynecology, Maternal Fetal Medicine and Medical Genetics. Dr. O’Brien is a physician in the Department of Obstetrics and Gynecology at Harvard Medical Faculty Physicians at Beth Israel Deaconess Medical Center and an Associate Professor in Obstetrics and Reproductive Biology at Harvard Medical School. She is the Director of the Maternal Fetal Medicine Fellowship at Beth Israel Deaconess Medical Center HMSGTP and the Director of the Combined Maternal Fetal Medicine/Medical Genetics combined training program at Beth Israel Deaconess Medical Center.
Natasha Frank, MD – Brigham and Women’s Hospital
Internal Medicine/Medical Genetics, Brigham and Women’s Hospital Rotation
Natasha Frank, MD is a faculty member at Brigham and Women’s Hospital.
Judy Garber, MD – Dana Farber Cancer Institute
Director, of Cancer Genetics and Prevention Disease Center Dana-Farber Cancer Institute
Judy E. Garber, M.D., MPH, is Director of the new Cancer Genetics and Prevention Disease Center at the Dana-Farber Cancer Institute. She is attending physician at Dana-Farber’s Breast Oncology Center, an associate physician at Brigham and Women’s Hospital and an associate professor of Medicine at Harvard Medical School. Dr. Garber is currently president-elect of American Association for Cancer Research, the largest organization of cancer researchers in the world. She is a member of the NCI Board of Scientific Counselors and chairs the External Advisory Board of the SPORE in Breast Cancer at MD Anderson Cancer Center. She serves on the Scientific Advisory Board of the Breast Cancer Research Foundation and is a member or chair of the Data Safety Monitoring Committees of several international breast cancer clinical trials. Locally, she co-chairs a Dana-Farber/Harvard Cancer Center Institutional Review Board panel D, and is a member of the Personalized Cancer Medicine Partnership Steering Committee and Executive Committee for Clinical Research. To foster the incorporation of cancer genetics into clinical practice, Dr. Garber has played a major role in the development of national guidelines in genetics (American College of Medical Genetics) and medical oncology (American Society of Clinical Oncology and National Comprehensive Cancer Network.) Her research activities include the study of breast cancer risk assessment and communication, cancer genetics more broadly, and pharmacogenetics. She is also a leader in research into the characteristics and treatment of triple negative or basal-like breast cancer, the most common form in women with BRCA1 mutations. Her translational research focuses on the evaluation of novel agents targeting DNA repair defects in breast cancer, including PARP inhibitors for treatment and prevention of breast cancer and other BRCA-associated cancers.
Anne Giersch, PhD – Brigham and Women’s Hospital
Cytogenetics
Anne Giersch, Ph.D. is a faculty member at Brigham and Women’s Hospital
Nina Gold, MD – Massachusetts General Hospital
Nina Gold is a 2018 graduate of the Harvard combined pediatrics and medical genetics residency. She then completed a medical biochemical fellowship at the Children’s Hospital of Philadelphia. She is an attending physician at Massachusetts General Hospital, where she sees pediatric and adult patients for evaluation of genetic and metabolic diagnoses. She is the Director of Prenatal Medical Genetics and Associate Director for Research for Mass General Brigham Personalized Medicine, and has a special interest in medical education.
Paula Goldenberg, MD
Site Director, Massachusetts General Hospital
Dr. Goldenberg is the Clinical Director of Genetics at Massachusetts General Hospital and the site director of the MGH clinical rotation for the training program. Her clinical and research interests focus on 22q11.2 Deletion , DiGeorge, Velo-Cardio-Facial, and Stickler/Marshall Syndromes as well as Prenatal Testing and Diagnosis.
Katherine Gray, MD
Robert Green, MD – Brigham and Women’s Hospital
Stephanie Guseh, MD
David Harris, MD – Boston Children’s Hospital
Clinical Genetics Boston Children’s Hospital
Ingrid A. Holm, MD, MPH – Boston Children’s Hospital
Dr. Holm is Professor of Pediatrics at Harvard Medical School, and is faculty of the Division of Genetics and Genomics and the Division of Endocrinology at Boston Children’s Hospital. She has broad experience in basic science and clinical research, and in clinical practice. Dr. Holm’s research interest is focused on the Ethical, Legal, and Social Implications (ELSI) of genomics. She has been a principal investigator or co-investigator on a number of NIH-funded grants studying the impact of returning genomic information to participants, families, and health care providers, including several national Networks and Consortia where she has held leadership positions. Dr. Holm’s other area of research interest is in genetic studies of rare diseases, including sudden unexpected death in pediatrics (SUDP), disorders of sex development, and the Undiagnosed Diseases Network (UDN) Harvard Clinical site. Dr. Holm has been a member of Boston Children’s Hospital Institutional Review Board (IRB) since 2006, and she is a member of the NIH All of Us (Precision Medicine Initiative) Research Program IRB. Dr. Holm’s clinical expertise is in disorders of sex development, and in genetic and metabolic bone diseases.
Lewis B. Holmes, MD – Massachusetts General Hospital
Clinical Genetics
Joel Krier, MD
Director, Internal Medicine/Medical Genetics Residency; Site Director, Brigham and Women’s Hospital
Joel Krier, M.D. is a clinical attending at Brigham and Women’s Hospital.
Saud AlDubayan, MD – Dana-Farber Cancer Institute & Brigham and Women’s Hospital
Clinical Cancer Genetics and Computational Biology
Dr. Saud AlDubayan is an Instructor of Medicine at Harvard Medical School, a Computational Biologist at Dana-Farber Cancer Institute, a Clinical Geneticist at Brigham and Women’s Hospital, and an Associate Scientist at the Broad Institute of MIT and Harvard. Dr. AlDubayan received his clinical training in Internal Medicine at the University of Toronto and Clinical Genetics and Genomics at Harvard Medical School. He also did a post-doctoral fellowship in Computational Cancer Genomics at Dana-Farber Cancer Institute and the Broad Institute. Dr. AlDubayan’s research focuses on utilizing various computational approaches to identify novel inherited genetic predictors of cancer risk, disease progression, and response to therapy. Dr. AlDubayan has led and co-led several large-scale studies that identified novel cancer-predisposition genes and characterized the germline genetic architecture of patients with colorectal cancer, testicular germ cell tumors, bladder cancer, and several others. More recently, Dr. AlDubayan used machine-learning approaches on the germline genetic data of cancer patients to uncover additional germline drivers of cancer risk, an effort that may introduce a new paradigm of deep learning-based clinical germline variant characterization. Dr. AlDubayan has received numerous awards, including a Young Investigator Award from the Prostate Cancer Foundation (PCF), a Career Development Award from the American Society of Clinical Oncology (ASCO), a Charles A. King Trust Postdoctoral Fellowship, a Physician Research Award from the US Department of Defense (DoD), and a Young Physician-Scientist Award from the American Society for Clinical Investigation.
Amy Kritzer, MD – Boston Children’s Hospital
Dr. Kritzer is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital. She graduated from the Albert Einstein College of Medicine in Bronx, NY. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. Her clinical work is focused on the care of children and adults with rare metabolic disorders. She serves as physician lead for Quality Improvement in the Division of Genetics. As QI lead, she creates and implements patient care initiatives designed to improve patient safety and patient and family experience. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases with a focus on improving quality of life. She serves as a Principal Investigator for several lysosomal storage disease registries, as co-director of the BoLD lysosomal storage disease program at Boston Children’s and as one of the main physicians for the PAL clinic
Harvey Levy, MD – Boston Children’s Hospital
Co-Director, Clinical Biochemical Genetics Fellowship
Harvey Levy, M.D. is co-director of the HMS ABMG Clinical Biochemical Genetics program. Dr. Levy specializes in biochemical genetics (metabolism). He is Senior Physician in Medicine/Genetics at Children’s Hospital Boston and Professor of Pediatrics at the Harvard Medical School. He was formerly Director of the Metabolic Program and currently serves as an attending physician within the program. Dr. Levy conducts clinical research in two areas of metabolism, phenylketonuria (PKU) and clinical and biochemical follow-up of newborn screening for metabolic disorders. He has very active research projects ongoing in those areas.
Azra Ligon, PhD – Brigham and Women’s Hospital
Director, Cytogenetics and LGG Fellowship
Azra H. Ligon, Ph.D., oversees training in the HMS ABMG Clinical Cytogenetics program. Dr. Ligon received her Ph.D. in Cancer Biology from the University of Texas/M.D. Anderson Cancer Center in 1995. She completed her Medical Genetics training at Baylor College of Medicine in 1997 and, after a research postdoctoral fellowship at Brigham and Women’s Hospital (BWH), joined the Staff of the BWH Cytogenetics Laboratory in 1999 as an ABMG-certified Clinical Cytogeneticist. In 2003, she assumed leadership of the HMS ABMG Cytogenetics training program. Dr. Ligon’s research activities include translation of basic research findings into clinical diagnostics, especially those relevant to the area of cancer diagnostics.
Angela Lin, MD – Massachusetts General Hospital
Clinical Genetics
Angela Lin trained in pediatric cardiology and medical genetics. As a clinical geneticist at MassGeneral Hospital for Children, her general genetics clinic is on Friday morning, supplemented by Cardiogenetics Clinic (including the MGH HHT Service), Craniofacial Clinic, Turner Syndrome Clinic, CHARGE Syndrome Clinic, and her interest in Costello and related Ras/MAPK syndromes. She works in the Active Malformation Surveillance Program at the BWH, and works at the MA Dept. Public Health as the geneticist for the Massachusetts Center for Birth Defects Prevention. Her clinical research interest focuses on syndrome delineation, cardiovascular anomalies in syndromes, and the epidemiology of CHDs. Dr. Lin is an Associate Editor for the American Journal of Medical Genetics. She works with several consumer advocacy groups including the Costello Syndrome Family Network and Turner Syndrome Society of America.
Neal Lindeman, MD – Brigham and Women’s Hospital
Director, Molecular Genetic Pathology Fellowship
Dr. Lindeman is a Molecular Genetic Pathologist. He serves as the Director of the HMS Molecular Genetic Pathology Training Program. He is also the Director of the BWH Molecular Diagnostics Laboratory, and thus supervises students during their clinical rotations there. In addition, he teaches in the Advanced Human Genetics course and the Topics in Genetic Laboratory Medicine Seminar series.
Deborah Marsden, MD – Boston Children’s Hospital
Mayra Martinez-Ojeda, MD – Boston Children’s Hospital
Heather Mason-Suares, PhD – Partners HealthCare Personalized Medicine
Director, Molecular Genetics and LGG Fellowship
Heather Mason-Suares, Ph.D., is an Assistant Director at Partners’ Personalized Medicine Laboratory for Molecular Medicine and the Cytogenetics Laboratory at Brigham & Women’s Hospital Center for Advanced Molecular Diagnostics. She also oversees training in the HMS ABMGG Clinical Molecular Genetics program. Dr. Mason-Suares received her Ph.D. in Genetics from Case Western Reserve University in 2010. She completed her Clinical Molecular Genetics and Cytogenetics training at Emory School of Medicine in 2014. Her current research and clinical interests concern the application of molecular diagnosis using next-generation sequencing and microarray technologies to chromosomal abnormalities in prenatal cases, RASopathies, and cardiomyopathy.
David Miller, M.D., PhD – Boston Children’s Hospital
David T. Miller, MD, PhD, FAAP, FACMG is an Associate Professor of Pediatrics at Harvard Medical School and Director of the Multidisciplinary Neurofibromatosis (NF) Clinic and NF Research Initiative (NFRI) at Boston Children’s Hospital. Dr. Miller is a practicing Medical Geneticist, both in direct patient care and laboratory genetics. His clinical, research, and teaching activities are focused on clinical expertise and innovation in delivering clinically effective and appropriate diagnostic genetic testing services. He has led or served on several national committees and advisory boards focused on best practices for clinical genetics and genetic testing, including: Co-Chair of the ClinGen Gene Curation Expert Panel for Autism and Intellectual Disability; Chair of ACMG’s Professional Practice and Guidelines Committee; Co-Chair of ACMG’s Secondary Findings Maintenance Working Group; Member of ACMG’s Evidence-Based Medicine Working Group; Member of ACMG’s Topic Selection Committee. He currently serves as Deputy Editor of Genetics in Medicine. After receiving his MD and PhD from Washington University School of Medicine in St. Louis, he completed a residency in Pediatrics at Yale-New Haven Hospital, and residency/fellowship in Medical Genetics and Clinical Molecular Genetics at Harvard Medical School. He is board-certified in Clinical Genetics and Clinical Molecular Genetics.
Cynthia Morton, PhD – Brigham and Women’s Hospital
Education Director
Cynthia Morton, Ph.D. is the William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology and Professor of Pathology at Harvard Medical School, Associate Director of the Partners HealthCare Center for Personalized Genetic Medicine, Education Director for the HMS Genetics Training Program and Director of Cytogenetics at Brigham and Women’s Hospital. Her research interests are in molecular cytogenetics, hereditary deafness, genetics of uterine leiomyomata, hereditary hearing loss, and cytogenetic approaches to gene discovery for developmental disorders. Her full-time academic laboratory contributed to the development of diagnostic testing for chromosome studies that cross the lifespan, which include preimplantation and prenatal diagnostics, perinatal and childhood studies in the evaluation of congenital and developmental disorders, infertility and pregnancy loss studies, and cytogenetics of leukemias, lymphomas and solid tumors. Her laboratory has been a major site for training laboratory geneticists in clinical cytogenetics.
Anne O’Donnell, MD, PhD
Jonathan Picker, MD – Boston Children’s Hospital
Course Director, Advanced Human Genetics Course
Dr. Picker is a clinical geneticist at Boston Children’s Hospital. His research focuses on the neurobiology of behavioral disorders. We are particularly interested in developmental factors, which lead to the neurological problems seen in disorders such as schizophrenia, Fragile X syndrome and other neurocognitive disorders.
Farrah Rajabi, MD
Huma Rana, MD – Dana-Farber Cancer Institute
Huma Q. Rana, MD is the Clinical Director of the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute, and Assistant Professor of Medicine at Harvard Medical School. At Dana-Farber and its affiliates and satellites, Dr. Rana oversees the medical management and the clinical operations that provide care to individuals with rare genetic susceptibilities to cancer. In addition to her clinical work, Dr. Rana leads multiple clinical research projects focused on developing cancer prevention and screening for those with hereditary cancer risk, and novel approaches to improving access to cancer genetics services.
Amy Roberts, MD – Boston Children’s Hospital
Co-Director, Pediatrics/Medical Genetics Residency; Co-Director, Maternal Fetal Medicine/Medical Genetics Fellowship
Amy Roberts, M.D., CHB Department of Cardilogy and Department of Medicine, Division of Genetics Dr. Roberts is a cardiovascular clinical geneticist and supervises trainees in the clinic and on the inpatient consult service. She also teaches in the Advanced Human Genetics course. She is conducting research on genotype-phenotype correlations in Noonan syndrome and congenital heart disease gene discovery. She co-directs the combined Pediatrics/Clinical Genetics residency training program with Ted Sectish, MD, Children’s Hospital Boston.
Lance Rodan, MD
Mersedeh Rohanizadegan, MD
Mersedeh Rohanizadegan, MD, MPH is an instructor in pediatrics at Harvard Medical School and a clinical geneticist at Boston Children’s Hospital, Brigham and Women’s Hospital and Dana-Farber Cancer institute. She is board certified in Internal Medicine and Clinical Genetics. Her research is focused on breast cancer genetics, especially functional characterization of Genome Wide Association Studies risk loci using genome editing and chromosome conformational capture techniques. Her clinical interests include cancer genetics, prenatal genetics and adult general genetics such as hereditary kidney disorders.
Stephanie Sacharow, MD
Inderneel Sahai, MD
Yiping Shen, PhD, FACMG
Course co-Director, Advanced Human Genetics Course
Dr. Shen is a molecular geneticist at Boston Children’s Hospital. His research focuses on the genetic basis of child development, including physical development (e.g. short stature) and neurodevelopment (e.g. Autism spectrum disorders). He specializes in genetic testing and variant interpretation.
Brian Skotko, MD – Massachusetts General Hospital
A Board-certified medical geneticist, Dr. Skotko is the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. As the Director of the hospital’s Down Syndrome Program, he has dedicated his professional energies toward children with cognitive and development disabilities. He co-authored the national award-winning books, Common Threads: Celebrating Life with Down Syndrome and Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School, and he is currently an Associate Professor at Harvard Medical School. Dr. Skotko is a leader on clinical and translational research about Down syndrome. He has been featured in The Wall Street Journal, The New York Times, The Washington Post, The L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko has a sister with Down syndrome and serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress.
David Sweetser, MD – Massachusetts General Hospital
Wen-Hann Tan, MD – Boston Children’s Hospital
Dr. Wen-Hann Tan is a clinical geneticist at Boston Children’s Hospital who is interested in a broad variety of genetic conditions including genodermatoses, vascular anomalies, pediatric cancer predisposition syndromes, the ASXL group of disorders, and all things ultra-rare. He leads a clinical research program that focuses on Angelman syndrome and is actively involved in observational / natural history studies as well as various clinical trials in Angelman syndrome, including the use of antisense oligonucleotides (ASO). He is also the site PI of a gene therapy trial in ornithine transcarbamylase (OTC) deficiency.
Christopher Walsh, MD, PhD – Boston Children’s Hospital
Dr. Walsh is the Chief of the Division of Genetics at Children’s Hospital Boston as well as Professor of Neurology and Pediatrics at Harvard Medical School, Associate Member of the Broad Institute, and Senior Associate in Neurology at Beth Israel Deaconess Medical Center. Dr. Walsh is interested in genes that regulate the development and function of the human cerebral cortex. More information can be found here: www.walshlab.org
Louise Wilkens-Haug, MD – Brigham and Women’s Hospital
Monica Wojcik, MD – Boston Children’s Hospital
Dr. Wojcik is a clinician-researcher in the Divisions of Newborn Medicine and in Genetics and Genomics at Boston Children’s Hospital. Her academic focus is on the application of genomic medicine in infancy, and she has a particular interest in using genomic sequencing to understand infant mortality and in the influence of social determinants of health on the genetic diagnostic odyssey. Overall, Dr. Wojcik’s research strives to apply her unique clinical background to improve infant health outcomes. Clinically, she attends in the neonatal intensive care unit and on the genetics/metabolism consult service at Boston Children’s Hospital, and she leads a developmental support program for infants with rare genetic conditions.