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CRDC Investigators | Overview

Pablo Altschwager Kreft, MD

Ophthalmologist, Department of Ophthalmology

Instructor of Ophthalmology, Harvard Medical School

Infantile nystagmus syndrome

Daniel M. Balkin, MD, PhD

Attending Physician, Department of Plastic & Oral Surgery

Instructor of Surgery, Harvard Medical School

Craniofacial anomaliesIsolated craniosynostosis

Alan Beggs, PhD

Director, The Manton Center for Orphan Disease Research

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

Myopathies and dystrophiesUltra-rare syndromic genetic diseases

 

Charles Berde, MD, PhD

Sara Page Mayo Chair, Pediatric Pain Medicine

Professor of Anaesthesia (Pediatrics), Harvard Medical School

Chronic pain and insensitivity

Philip Boone, MD, PhD

Attending Physician, Division of Genetics and Genomics

Cornelia de Lange syndrome (CdLS)

Joseph G. Borer, MD

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

Associate Professor of Surgery, Harvard Medical School

Bladder exstrophy-epispadias complex (BEEC)

Jacob R. Brodsky, MD, FACS, FAAP

Associate Professor of Otolaryngology, Harvard Medical School

Vestibular disorders

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 painEarly-onset psychosisEarly-onset severe psychiatric disordersInterstitial Cystitis

Alicia Casey, MD

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

Assistant Professor of Pediatrics, Harvard Medical School

Interstitial and diffuse lung disease

Yee-Ming Chan, MD, PhD

Associate Professor of Pediatrics, Harvard Medical School

Differences of sex development/severe hypospadias

Maya Chopra, MBBS, FRACP

Assistant Professor of Neurology, Harvard Medical School

Congenital heart disease (CHD) and neurodevelopmental disorders

Wendy Chung

Chief, Department of Pediatrics

Member of the Faculty of Pediatrics, Harvard Medical School

Deep Interpretation of Complex Clinical Cases

Alissa D'Gama, MD, PhD

Clinical Fellow, Division of Newborn Medicine

Infantile epilepsy

 

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

 

Darius Ebrahimi-Fakhari, MD, PhD

Director, Movement Disorders Program; Attending, Department of Neurology

Assistant Professor of Neurology, Harvard Medical School

Hereditary spastic paraplegia (HSP)

Katie Pricola Fehnel, MD

Assistant Professor, Harvard Medical School

Cerebrovascular disorders (CVDs)

 

Martha Fishman, MD

Assistant Professor of Pediatrics, Harvard Medical School

Interstitial and diffuse lung disease (ILD)

 

Jason Flannick, PhD

Assistant Professor of Pediatrics, Harvard Medical School

 

Mark Daniel Fleming, MD, DPhil

S. Burt Wolbach Professor of Pathology, Harvard Medical School

Anemias and iron disorders

 

 

Anne Fulton, MD

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

Professor, Harvard Medical School

Infantile nystagmus syndrome

 

Ingrid Ganske, MD

Assistant Professor, Harvard Medical School

Sudden unexpected death in pediatrics (SUDP)

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

Early-onset psychosis

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)

 

Joseph Gonzalez-Heydrich, MD

Associate Professor of Psychiatry, Harvard Medical School

Early-onset psychosisEarly-onset severe psychiatric disorders

 

Joel Hirschhorn, MD, PhD

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

Differences of sex development/severe hypospadiasEhlers-Danlos syndrome (EDS), Idiopathic short stature

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)

 

Christina Jacobsen, MD, PhD

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

Assistant Professor of Pediatrics, Harvard Medical School

Osteogenesis imperfecta (OI)

 

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

 

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

Bronchiectasis

Margaret Kenna, MD, MPH, FACS, FAAP

Professor of Otolaryngology, Harvard Medical School

Congenital sensorineural hearing loss (SNHL)

 

 

Ted Lee, MD, MSc

Attending, Department of Urology

Member of Faculty, Department of Surgery

Bladder exstrophy-epispadias complex (BEEC)Disorders of voiding

 

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

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)

 

Lindsay Lemire, MSN, RN, FNP-BC

Advanced Practice Nurse, Department of Surgery

Isolated craniosynostosis

 

Amar Majmundar, MD, PhD

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

Assistant Professor of Pediatrics, Harvard Medical School

Urinary tract stones

 

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

 

Sarah Morton, MD, PhD

Principal Investigator

Assistant Professor of Pediatrics, Harvard Medical School

Neonatal Intensive Care Unit (NICU)

 

 

Anne O'Donnell, MD, PhD

Assistant Professor of Pediatrics, Harvard Medical School

Isolated craniosynostosis

 

 

Heather Olson, MD

Assistant, Department of Neurology

Instructor of Neurology, Harvard Medical School

KCNQ2-related Epilepsies

 

Darren B. Orbach, MD, PhD

Associate Professor of Radiology, Harvard Medical School

Cerebrovascular disorders (CVDs)

 

Craig Platt, MD, PhD

Attending Physician, Division of Immunology; Director, Flow Cytometry

Assistant Professor of Pediatrics, Harvard Medical School

Immunodeficiencies, autoimmunity, and immune dysregulation

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 epilepsyKCNQ2-related epilepsiesUnexplained epilepsies

 

Lisa Albers Prock, MD, MPH

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

Assistant Professor of Pediatrics, Harvard Medical School

Congenital heart disease (CHD)

Benjamin Raby, MD, MPH

Leila and Irving Perlmutter Professor of Pediatrics, Harvard Medical School

BronchiectasisInterstitial and diffuse lung disease (ILD)

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

Hereditary spastic paraplegia (HSP)

Matthew Sampson, MD, MS

Attending, Division of Nephrology

Associate Professor of Pediatrics, Harvard Medical School

Nephrotic syndrome/glomerular disease

 

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

Sickle Cell Disease

 

Diane Shao, MD, PhD

Attending

Instructor of Neurology, Harvard Medical School

Brain malformations

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 lossCongenital sensorineural hearing loss (SNHL)Vestibular disorders

 

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

 

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

Graves disease

 

Edward Robert Smith, MD, MBA

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

Professor, Harvard Medical School

Cerebrovascular disorders (CVDs)

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)

 

Siddharth Srivastava, MD

Assistant, Department of Neurology

Assistant Professor of Neurology, Harvard Medical School

Cerebrovascular disorders (CVDs)Cerebral palsy (CP)

Joan Stoler, MD

Clinical Geneticist, Division of Genetics and Genomics

Associate Professor of Pediatrics, Harvard Medical School

Ehlers-Danlos syndrome (EDS)

 

Wen-Hann Tan, BMBS

Associate Professor of Pediatrics, Harvard Medical School

Intestinal malrotation

Jay Thiagarajah, MD, PhD

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

Assistant Professor of Pediatrics, Harvard Medical School

Congenital diarrheas and enteropathies

Christopher Walsh, MD, PhD

Bullard Professor of Pediatrics and Neurology at Harvard Medical School

Brain malformations

Ruobing Wang, MD

Attending Physician, Division of Pulmonary Medicine

Assistant Professor of Pediatrics, Harvard Medical School

Bronchiectasis

Mary Whitman, MD, PhD

Principal Investigator, Whitman Lab

Assistant Professor, Harvard Medical School

Infantile esotropiaInfantile nystagmus syndrome

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

Complex fetal anomalies

 

Timothy Yu, MD, PhD

Associate Professor of Pediatrics, Harvard Medical School

Agenesis of the Corpus CallosumDiamond-Blackfan anemia (DBA)

Jia Zhu, MD

Attending Physician, Division of Endocrinology

Instructor or Pediatrics, Harvard Medical School

Idiopathic short stature