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Investigators involved in the CRDC

Pablo Altschwager Kreft, MD

Ophthalmologist, Department of Ophthalmology

Instructor of Ophthalmology, Harvard Medical School

Daniel M. Balkin, MD, PhD

Attending Physician, Department of Plastic & Oral Surgery

Instructor of Surgery, Harvard Medical School

Alan Beggs, PhD

Director, The Manton Center for Orphan Disease Research

Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School

Charles Berde, MD, PhD

Sara Page Mayo Chair, Pediatric Pain Medicine

Professor of Anaesthesia (Pediatrics), Harvard Medical School

Philip Boone, MD, PhD

Attending Physician, Division of Genetics and Genomics

Joseph G. Borer, MD

Director, Bladder Exstrophy Program; Co-Director, Neurourology and Urodynamics; Chair, Reconstructive Urologic Surgery

Associate Professor of Surgery, Harvard Medical School

Jacob R. Brodsky, MD, FACS, FAAP

Associate Professor of Otolaryngology, Harvard Medical School

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

Carlo Brugnara, MD

Director, Hematology Lab

Professor of Pathology, Harvard Medical School

Alicia Casey, MD

Co-Director, Interstitial Lung Disease Program; Director, Fellowship Training Program

Assistant Professor of Pediatrics, Harvard Medical School

Yee-Ming Chan, MD, PhD

Associate Professor of Pediatrics, Harvard Medical School

Maya Chopra, MBBS, FRACP

Assistant Professor of Neurology, Harvard Medical School

Janet Chou, MD

Associate Professor of Pediatrics, Harvard Medical School

Covid-19

Alissa D'Gama, MD, PhD

Clinical Fellow, Division of Newborn Medicine

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

Darius Ebrahimi-Fakhari, MD, PhD

Director, Movement Disorders Program; Attending, Department of Neurology

Assistant Professor of Neurology, Harvard Medical School

Katie Pricola Fehnel, MD

Assistant Professor, Harvard Medical School

Martha Fishman, MD

Assistant Professor of Pediatrics, Harvard Medical School

Jason Flannick, PhD

Assistant Professor of Pediatrics, Harvard Medical School

Mark Daniel Fleming, MD, DPhil

S. Burt Wolbach Professor of Pathology, Harvard Medical School

Anne Fulton, MD

Ophthalmologist, Department of Ophthalmology; Director, Pediatric Medical Retinal Service

Professor, Harvard Medical School

Ingrid Ganske, MD

Assistant Professor, Harvard Medical School

David Glahn, PhD

Associate Chief-Research, Department of Psychiatry; Director, Tommy Fuss Center for Neuropsychiatric Disease Research; 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

Richard Goldstein, MD

Director, Robert's Program on Sudden Unexpected Death in Pediatrics

Associate Professor of Pediatrics, Harvard Medical School

Joseph Gonzalez-Heydrich, MD

Associate Professor of Psychiatry, Harvard Medical School

Joel Hirschhorn, MD, PhD

Concordia Professor of Pediatrics and Professor of Genetics, Harvard Medical School

Ingrid Holm, MD, MPH

Attending Physician, Division of Endocrinology; Attending Physician, Division of Genetics and Genomics

Professor of Pediatrics, Harvard Medical School

Christina Jacobsen, MD, PhD

Executive Director, Bone Health Program; Attending Physician, Divisions of Endocrinology & Genetics and Genomics

Assistant Professor of Pediatrics, Harvard Medical School

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

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

Margaret Kenna, MD, MPH, FACS, FAAP

Professor of Otolaryngology, Harvard Medical School

Ted Lee, MD, MSc

Attending, Department of Urology

Member of Faculty, Department of Surgery

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

Laura Lehman, MD, MPH

Attending, Department of Neurology; Outpatient Medical Director, Stroke and Cerebrovascular Center

Assistant Professor of Neurology, Harvard Medical School

Lindsay Lemire, MSN, RN, FNP-BC

Advanced Practice Nurse, Department of Surgery

Amar Majmundar, MD, PhD

Co-Director, Kidney Genetics Clinic; Attending, Division of Nephrology

Assistant Professor of Pediatrics, Harvard Medical School

Nina Mann, MD

Co-Director, Kidney Genetics Clinic; Attending, Division of Nephrology

Instructor of Pediatrics, Harvard Medical School

Sarah Morton, MD, PhD

Principal Investigator

Assistant Professor of Pediatrics, Harvard Medical School

Anne O'Donnell, MD, PhD

Assistant Professor of Pediatrics, Harvard Medical School

Heather Olson, MD

Assistant, Department of Neurology

Instructor of Neurology, Harvard Medical School

Darren B. Orbach, MD, PhD

Associate Professor of Radiology, Harvard Medical School

Craig Platt, MD, PhD

Attending Physician, Division of Immunology; Director, Flow Cytometry

Assistant Professor of Pediatrics, Harvard Medical School

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

Lisa Albers Prock, MD, MPH

Associate Chief, Division of Developmental Medicine; Director, Developmental Medicine Center

Assistant Professor of Pediatrics, Harvard Medical School

Benjamin Raby, MD, MPH

Leila and Irving Perlmutter Professor of Pediatrics, Harvard Medical School

Adrienne Randolph, MD, MSc

Professor of Anaesthesia, Harvard Medical School

Shira Rockowitz, PhD

Data Science Director, Research Computing

Instructor, Harvard Medical School

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

Matthew Sampson, MD, MS

Attending, Division of Nephrology

Associate Professor of Pediatrics, Harvard Medical School

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

Diane Shao, MD, PhD

Attending

Instructor of Neurology, Harvard Medical School

A. Eliot Shearer, MD, PhD

Associate, Department of Otolaryngology and Communication Enhancement

Assistant Professor of Otolaryngology Head and Neck Surgery, Harvard Medical School

Akiko Shimamura, MD, PhD

Director, Bone Marrow Failure and Myelodysplastic Syndrome Program

Professor of Pediatrics, Harvard Medical School

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

Jessica Smith, MD

Associate Medical Director, Thyroid Center; Attending Physician, Division of Endocrinology

Assistant Professor of Pediatrics, Harvard Medical School

Edward Robert Smith, MD, MBA

Vice Chair, Department of Neurosurgery, Co-Director, Cerebrovascular Surgery and Interventions Center

Professor, Harvard Medical School

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

Siddharth Srivastava, MD

Assistant, Department of Neurology

Assistant Professor of Neurology, Harvard Medical School

Joan Stoler, MD

Clinical Geneticist, Division of Genetics and Genomics

Associate Professor of Pediatrics, Harvard Medical School

Wen-Hann Tan, BMBS

Associate Professor of Pediatrics, Harvard Medical School

Jay Thiagarajah, MD, PhD

Co-Director Congenital Enteropathy Program; Attending Physician, Division of Gastroenterology, Hepatology and Nutrition

Assistant Professor of Pediatrics, Harvard Medical School

Christopher Walsh, MD, PhD

Bullard Professor of Pediatrics and Neurology at Harvard Medical School

Ruobing Wang, MD

Attending Physician, Division of Pulmonary Medicine

Assistant Professor of Pediatrics, Harvard Medical School

Mary Whitman, MD, PhD

Principal Investigator, Whitman Lab

Assistant Professor, Harvard Medical School

David A. Williams, MD

Leland Fikes Professor of Pediatrics, Harvard Medical School

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

Timothy Yu, MD, PhD

Associate Professor of Pediatrics, Harvard Medical School

Jia Zhu, MD

Attending Physician, Division of Endocrinology

Instructor or Pediatrics, Harvard Medical School

Abdulrahman Aldeeri, MBBS

Clinical Fellow in Medical Genetics and Genomics

Xena Alqahtani, MBBS

Clinical Research Fellow

Ryan Doan, PhD, FACMG

Assistant Professor of Pediatrics in Division of Genetics and Genomics

Courtney French, PhD

Data Science Manager, Research Computing

Claudio Melo de Gusmao, MD

Jonathan Salazar, MD

Clinical Fellow in Pediatric Gastroenterology, Hepatology, and Nutrition