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Edward Neilan

Chief Medical and Scientific Officer, National Organization for Rare Disorders · Stanford Health Care

Credentials: · · ·

History

National Organization for Rare Disorders · Stanford Health Care
Present

Medical Genetics and Genomics
Boston Children's Hospital
2002–2004
Pediatrics
Boston Children's Hospital
1998–2001
Stanford University School of Medicine
1994–1998

Research

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair
Nature Genetics · 2012 · 193 citations
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
New England Journal of Medicine · 2015 · 177 citations
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
Case report · American Journal of Medical Genetics Part A · 2008 · 144 citations

Gerard Berry
3 papers
Annapurna Poduri
2 papers
Harvey Levy
2 papers
MS
Mustafa Sahin
2 papers
OK
Omar Khwaja
2 papers
Philip James
2 papers
SC
Sameer Chopra
2 papers · 2 as a fellow
Sanjeev Kothare
2 papers
VK
Virginia Kimonis
2 papers
AL
Alban Longchamp
1 paper · 1 as a resident
Alcy Torres
1 paper
AS
Alison Schonwald
1 paper

Clinical trials

Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome
Principal investigator · Completed · Phase 1, Phase 2
DNage B.V.
2010–2011