Edward G Neilan MD PhD
Clinical Biochemical Genetics, Clinical Genetics
Chief Medical and Scientific Officer, National Organization for Rare Disorders
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300 Longwood AveBoston, MA 02115
Phone+1 617-355-6394
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Summary
- Dr. Edward Neilan is a medical geneticist in Boston, MA. Dr. Neilan is the Chief Medical and Scientific Officer at the National Organization for Rare Disorders (NORD), and he is affiliated with Boston Children's Hospital. He received his medical degree from Stanford University School of Medicine and has been in practice 19 years. He specializes in clinical biochemical genetics and clinical genetics.
Education & Training
Boston Children’s Hospital/Harvard Medical SchoolResidency, Medical Genetics and Genomics, 2001 - 2004- Boston Children’s Hospital/Harvard Medical SchoolFellowship, Medical Genetics and Genomics, 2004
- Boston Children’s Hospital/Boston Medical CenterResidency, Pediatrics, 1998 - 2001
Stanford University School of MedicineClass of 1998
Certifications & Licensure
MA State Medical License 2001 - 2026
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics- American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics
Clinical Trials
- Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome Start of enrollment: 2010 Jun 01
Publications & Presentations
PubMed
- 7 citationsChanges in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the...Kenneth I Berger, Yin-Hsiu Chien, Alberto Dubrovsky, Priya S Kishnani, Juan C Llerena Jr
Journal of Neurology. 2024-08-01 - 6 citationsTwo Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses.Ines Sanchez-Roman, Sofie Lautrup, Maria D. Aamann, Edward G. Neilan, John R. Østergaard
Mechanisms of Ageing and Development. 2018-10-01 - A Case of Severe Neonatal Hyperammonemia.Roy W A Peake, Edward G. Neilan
Clinical Chemistry. 2017-08-01
Press Mentions
A Promising Genetic Treatment Tailor-Made for a Baby Born with a Rare DisorderMay 15th, 2025- National Organization for Rare Disorders (NORD) Launches the Living Rare Study – First to Measure Full Scope of Rare Disease ChallengesOctober 21st, 2024
- National Organization for Rare Disorders (NORD) Welcomes Edward Neilan, MD, PhD, as Chief Medical and Scientific OfficerMay 27th, 2021
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