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Editorial Board

Editors-in-Chief

Resmi

Rashmi Gopal-Srivastava, PhD

Clinical and Translational Science Awards (CTSA) Hubs
National Center for Advancing Translational Sciences (NCATS)
National Institutes of Health (NIH)
Democracy 1 Building, Room 908
6701 Democracy Blvd
Bethesda, MD 20892
USA
Email: gopalr@mail.nih.gov
(Rare Diseases, Translational Science Research, Microbiology and Molecular Biology)

Percy

Alan K. Percy, MD

Department of Pediatrics
Division of Child Neurology
University of Alabama School of Medicine
Birmingham, AL
USA
Email: apercy@uab.edu
(Rare Diseases, Inborn Errors of Metabolism, Pediatric Neurology)

Associate Editors

Stephen C. Groft, Pharm D
National Institutes of Health
Bethesda, MD
USA
(Rare Diseases)

Kenjiro Kosaki, MD
Keio University School of Medicine, Tokyo
Japan
(Medical Genetics, Intellectual Disability)

Social Media Editor

Harsha K. Rajasimha, MS, PhD
Indo US Organization for Rare Diseases
Fairfax, VA
USA
(Clinical Trials Management, Patient Registries, DEIA, Indo-US, Patient Advocacy)

Editorial Board

Xinhua Bao, MD
Peking University First Hospital, Beijing
China
(Clinical Genetics, Medical Genetics, Neurological Disorders, Rare Diseases, RETT)

John Christodoulou, MB, PhD
Murdoch Childrens Research Institute, Parkville
Australia
(Genetics)

Angus Clarke, BM, DM, MRCP
Cardiff University, Cardiff
UK
(Genetics)

Simon Day, PhD
NDA Group, London
UK
(Clinical Trial Design, Statistics, Small Population, Regulatory Issues)

Philip M. Farrell, MD, PhD
UW School of Medicine and Public Health, WI
USA
(Pediatrics, Cystic Fibrosis and other Respiratory Disorders of Pediatric Patients Caused by Genetic Mutations,e.g., Desquamative Interstitial Pneumonitis and Primary Ciliary Dyskinesia (PCD) and Angelman Syndrome)

Carlos Ferreira, MD
National Human Genome Research Institute, Bethesda, MD
USA
(Inborn Errors of Metabolism, Medical Genetics)

Meral Gunay-Aygun, MD
National Human Genome Research Institute, NIH, Bethesda, MD
USA
(Medical Genetics. Abnormal Newborn Screens, Inherited Metabolic Disorders, Inborn Errors of Metabolism, Newborn Screening, Ciliopathies)

Melissa Haendel, PhD
University of Colorado Anschutz Medical Campus, Aurora, CO
USA
(Translational Informatics, Rare Disease Coding Systems, Ontologies, Deep Phenotyping, Open Science)

Carla M.L. van Herpen, MD, PhD
Radboud University Medical Center, Nijmegen
The Netherlands
(Rare Cancers, Early Clinical Studies with New Drugs and Drug Combinations in Oncology)

Bruce Korf, MD, PhD
University of Alabama Birmingham, Birmingham, AL
USA
(Neurological Disorders, Medical Genetics)

Michele Manion, BS
Primary Ciliary Dyskinesia Foundation, Minneapolis, MN
USA
(Patient Perspective for Primary Ciliary Dyskinesia and Related Pulmonary and Rare Diseases)

Chuck Mohan, BS
United Mitochondrial Disease Foundation, Pittsburgh, PA
USA
(Patient, Caregiver and Family Perspective for Mitochondrial and Other Rare Diseases)

Sarah E. O’Kelley, PhD
University of Alabama at Birmingham, Departments of Psychology and Pediatrics, Birmingham, AL
USA
(Autism, Neurodevelopmental Disorders, Behavioral Phenotypes, Clinical, Psychological Assessment, Diagnosis)

Phillip L. Pearl, MD
Boston Children's Hospital/Harvard Medical School
Boston, MA
USA
(Inborn Errors of Metabolism)

Ratna PuriMD, DM
Sir Ganga Ram Hospital, New Delhi
India
(Medical Genetics, Dysmorphology, Rare Diseases, Undiagnosed Diseases Program)

Alessandra Renieri, MD, PhD
University of Siena, Siena
Italy
(Molecular Genetics, RETT)

Marco Roos, PhD
Leiden University Medical Centre, Leiden
The Netherlands
(FAIR, Data Infrastructure for Rare Diseases, (Health Care and Life Sience Application of) Knowledge Representation and Semantic Web, E-Science)

Ola Skjeldal, MD, PhD
Rikshospitalet University Hospital, Oslo
Norway
(Neurological Disorders)

Marshall Summar, MD
Children’s National Hospital, Washington DC
USA
(Urea Cycle Disorders, Clinician)

John L.P. Thompson, PhD
Columbia University, New York, NY
USA
(Clinical Trials, Biostatistics)

Bruce Trapnell, MD
CCHMC, Cincinnati, OH
USA
(Pulmonologist, Clinician)

Laurent Villard, PhD
INSERM and Aix Marseille University, Marseille
France
(Neurogenetics, Rare Genetic Diseases of the Central Nervous System, Mouse Models of Neurological Diseases,Developmental and Epileptic Encephalopathies)

Wendy A.G. van Zelst-Stams, MD, PhD
Radboud University Medical Center
Nijmegen, The Netherlands
(Clinical Genetics, Rare Diseases)