Pablo Altschwager Kreft, MD
Ophthalmologist, Department of Ophthalmology
Instructor of Ophthalmology, Harvard Medical School
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Daniel M. Balkin, MD, PhD
Attending Physician, Department of Plastic & Oral Surgery
Instructor of Surgery, Harvard Medical School
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Alan Beggs, PhD
Director, The Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School
Myopathies and dystrophies, Ultra-rare syndromic genetic diseases
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Charles Berde, MD, PhD
Sara Page Mayo Chair, Pediatric Pain Medicine
Professor of Anaesthesia (Pediatrics), Harvard Medical School
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Philip Boone, MD, PhD
Attending Physician, Division of Genetics and Genomics
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Joseph G. Borer, MD
Director, Bladder Exstrophy Program; Co-Director, Neurourology and Urodynamics; Chair, Reconstructive Urologic Surgery
Associate Professor of Surgery, Harvard Medical School
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Jacob R. Brodsky, MD, FACS, FAAP
Associate Professor of Otolaryngology, Harvard Medical School
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Catherine Brownstein, MPH, PhD
Scientific Director, Manton Center Gene Discovery Core; Research Associate, Division of Genetics and Genomics; Assistant Director, Molecular Genetics Core
Assistant Professor, Harvard Medical School
Chronic pain, Early-onset psychosis, Early-onset severe psychiatric disorders, Interstitial Cystitis
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Alicia Casey, MD
Co-Director, Interstitial Lung Disease Program; Director, Fellowship Training Program
Assistant Professor of Pediatrics, Harvard Medical School
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Yee-Ming Chan, MD, PhD
Associate Professor of Pediatrics, Harvard Medical School
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Maya Chopra, MBBS, FRACP
Assistant Professor of Neurology, Harvard Medical School
Congenital heart disease (CHD) and neurodevelopmental disorders
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Janet Chou, MD
Associate Professor of Pediatrics, Harvard Medical School
Acute COVID-19, Genetic susceptibility to critical illness from acute infections, Graves disease, Immunodeficiencies, autoimmunity, and immune dysregulation
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Wendy Chung
Chief, Department of Pediatrics
Member of the Faculty of Pediatrics, Harvard Medical School
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Christopher P. Duggan, MD, MPH
Meltzer Professor of Pediatrics in the Field of Gastroenterology, Harvard Medical School; Professor in the Departments of Nutrition and Global Health and Population, Harvard TH Chan School of Public Health
Intestinal malrotation and volvulus
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Darius Ebrahimi-Fakhari, MD, PhD
Director, Movement Disorders Program; Attending, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
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Katie Pricola Fehnel, MD
Assistant Professor, Harvard Medical School
Cerebrovascular disorders (CVDs)
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Martha Fishman, MD
Assistant Professor of Pediatrics, Harvard Medical School
Interstitial and diffuse lung disease (ILD)
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Anne Fulton, MD
Ophthalmologist, Department of Ophthalmology; Director, Pediatric Medical Retinal Service
Professor, Harvard Medical School
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Ingrid Ganske, MD
Assistant Professor, Harvard Medical School
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David Glahn, PhD
Associate Chief-Research, Department of Psychiatry; Director, Tommy Fuss Center; Director, Early Psychosis Investigation Center; Director, Neuropsychiatric Genetics Program; Endowed chair,Behavioral Science Research
Professor of Psychology in the Department of Psychiatry, Harvard Medical School
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Richard Goldstein, MD
Director, Robert's Program on Sudden Unexpected Death in Pediatrics
Associate Professor of Pediatrics, Harvard Medical School
Sudden unexpected death in pediatrics (SUDP)
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Joseph Gonzalez-Heydrich, MD
Associate Professor of Psychiatry, Harvard Medical School
Early-onset psychosis, Early-onset severe psychiatric disorders
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Joel Hirschhorn, MD, PhD
Concordia Professor of Pediatrics and Professor of Genetics, Harvard Medical School
Differences of sex development/severe hypospadias, Ehlers-Danlos syndrome (EDS), Idiopathic short stature
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Ingrid Holm, MD, MPH
Attending Physician, Division of Endocrinology; Attending Physician, Division of Genetics and Genomics
Professor of Pediatrics, Harvard Medical School
Sudden unexpected death in pediatrics (SUDP)
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Christina Jacobsen, MD, PhD
Executive Director, Bone Health Program; Attending Physician, Divisions of Endocrinology & Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
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Tom Jaksic, MD, PhD
W. Hardy Hendren Professor of Surgery at Harvard Medical School, Vice-Chairman of Pediatric General Surgery Boston Children’s Hospital and the Surgical Director of the Center for Advanced Intestinal Rehabilitation
W. Hardy Hendren Professor of Surgery, Harvard Medical School
Intestinal malrotation and volvulus
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Umakanth Katwa, MD
Director, Sleep Center; Attending Physician, Division of Pulmonary Medicine; Director, Sleep Laboratories; Director; Primary Ciliary Dyskinesia Program
Instructor of Pediatrics, Harvard Medical School
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Margaret Kenna, MD, MPH, FACS, FAAP
Professor of Otolaryngology, Harvard Medical School
Congenital sensorineural hearing loss (SNHL)
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Ted Lee, MD, MSc
Attending, Department of Urology
Member of Faculty, Department of Surgery
Bladder exstrophy-epispadias complex (BEEC), Disorders of voiding
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Richard S. Lee, MD
Vice Chair, Research; Director, Urologic Oncology; Director, Transplant Urology; Co-Director, Bladder Exstrophy Program
Associate Professor of Surgery, Harvard Medical School
Bladder exstrophy-epispadias complex (BEEC), Disorders of voiding
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Laura Lehman, MD, MPH
Attending, Department of Neurology; Outpatient Medical Director, Stroke and Cerebrovascular Center
Assistant Professor of Neurology, Harvard Medical School
Cerebrovascular disorders (CVDs)
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Amar Majmundar, MD, PhD
Co-Director, Kidney Genetics Clinic; Attending, Division of Nephrology
Assistant Professor of Pediatrics, Harvard Medical School
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Nina Mann, MD
Co-Director, Kidney Genetics Clinic; Attending, Division of Nephrology
Instructor of Pediatrics, Harvard Medical School
Bladder exstrophy-epispadias complex (BEEC), Disorders of voiding
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Sarah Morton, MD, PhD
Principal Investigator
Assistant Professor of Pediatrics, Harvard Medical School
Neonatal Intensive Care Unit (NICU)
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Heather Olson, MD
Assistant, Department of Neurology
Instructor of Neurology, Harvard Medical School
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Darren B. Orbach, MD, PhD
Associate Professor of Radiology, Harvard Medical School
Cerebrovascular disorders (CVDs)
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Craig Platt, MD, PhD
Attending Physician, Division of Immunology; Director, Flow Cytometry
Assistant Professor of Pediatrics, Harvard Medical School
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Annapurna Poduri, MD, MPH
Director, Neurogenetics Program; Director, Epilepsy Genetics Program; Associate Chief for Academic Development, Department of Neurology; Diamond Blackfan Chair in Neuroscience Research;
Professor of Neurology, Harvard Medical School
Infantile epilepsy, KCNQ2-related epilepsies, Unexplained epilepsies
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Lisa Albers Prock, MD, MPH
Associate Chief, Division of Developmental Medicine; Director, Developmental Medicine Center
Assistant Professor of Pediatrics, Harvard Medical School
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Benjamin Raby, MD, MPH
Leila and Irving Perlmutter Professor of Pediatrics, Harvard Medical School
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Adrienne Randolph, MD, MSc
Professor of Anaesthesia, Harvard Medical School
Acute COVID-19, Genetic susceptibility to critical illness from acute infections
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Mustafa Sahin, MD, PhD
Director, Translational Neuroscience Center; Director, Translational Research Program; Rosamund Stone Zander Chair
Rosamund Stone Zander Chair Professor of Neurology, Harvard Medical School
Hereditary spastic paraplegia (HSP)
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Matthew Sampson, MD, MS
Attending, Division of Nephrology
Associate Professor of Pediatrics, Harvard Medical School
Nephrotic syndrome/glomerular disease
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Vijay Sankaran, MD, PhD
Lodish Family Chair, Boston Children's Hospital; Attending Physician, Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Jan Ellen Paradise, MD Associate Professor of Pediatrics, Harvard Medical School
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A. Eliot Shearer, MD, PhD
Associate, Department of Otolaryngology and Communication Enhancement
Assistant Professor of Otolaryngology Head and Neck Surgery, Harvard Medical School
Childhood hearing loss, Congenital sensorineural hearing loss (SNHL), Vestibular disorders
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Akiko Shimamura, MD, PhD
Director, Bone Marrow Failure and Myelodysplastic Syndrome Program
Professor of Pediatrics, Harvard Medical School
Bone marrow failure (BMF), myelodysplastic syndrome (MDS), and leukemia predisposition
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Piotr Sliz, PhD
Vice President and Chief Research Information Officer; Faculty, Division of Molecular Medicine; Principal Investigator, SBGrid Consortium
Associate Professor of Pediatrics and of Biological Chemistry and Molecular Pharmacology, Harvard Medical School
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Jessica Smith, MD
Associate Medical Director, Thyroid Center; Attending Physician, Division of Endocrinology
Assistant Professor of Pediatrics, Harvard Medical School
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Edward Robert Smith, MD, MBA
Vice Chair, Department of Neurosurgery, Co-Director, Cerebrovascular Surgery and Interventions Center
Professor, Harvard Medical School
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Scott B. Snapper, MD, PhD
Chief, Division of Gastroenterology, Hepatology and Nutrition; Director, Inflammatory Bowel Disease Center
Professor of Medicine and Pediatrics, Harvard Medical School
Inflammatory Bowel Disease (IBD)
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Siddharth Srivastava, MD
Assistant, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
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Joan Stoler, MD
Clinical Geneticist, Division of Genetics and Genomics
Associate Professor of Pediatrics, Harvard Medical School
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Jay Thiagarajah, MD, PhD
Co-Director Congenital Enteropathy Program; Attending Physician, Division of Gastroenterology, Hepatology and Nutrition
Assistant Professor of Pediatrics, Harvard Medical School
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Christopher Walsh, MD, PhD
Bullard Professor of Pediatrics and Neurology at Harvard Medical School
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Ruobing Wang, MD
Attending Physician, Division of Pulmonary Medicine
Assistant Professor of Pediatrics, Harvard Medical School
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Mary Whitman, MD, PhD
Principal Investigator, Whitman Lab
Assistant Professor, Harvard Medical School
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Monica Hsiung Wojcik, MD, MPH
Medical Director, Manton Center Gene Discovery Core; Newborn Medicine Medical Director​, Maternal Fetal Care Center; Attending Neonatologist, Division of Newborn Medicine
Assistant Professor of Pediatrics, Harvard Medical School
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Timothy Yu, MD, PhD
Associate Professor of Pediatrics, Harvard Medical School
Agenesis of the Corpus Callosum, Diamond-Blackfan anemia (DBA)
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Jia Zhu, MD
Attending Physician, Division of Endocrinology
Instructor or Pediatrics, Harvard Medical School