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William Gahl, MD, Medical Genetics, Bethesda, MD

WilliamAllenGahlMD

Medical Genetics • Bethesda, MD

Clinical Biochemical Genetics, Clinical Genetics

Physician

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  • Office

    10 Center Drive Msc 1851
    Bldg. 10, Room 10c-103, Nhgri, Nih
    Bethesda, MD 20892
    Phone+1 301-402-2739
    Fax+1 301-402-2740
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Education & Training

  • National Capital Consortium
    National Capital ConsortiumResidency, Pediatrics, 1981 - 1985
  • University of Wisconsin Hospitals and Clinics
    University of Wisconsin Hospitals and ClinicsFellowship, Medical Oncology, 1980 - 1981
  • University of Wisconsin Hospitals and Clinics
    University of Wisconsin Hospitals and ClinicsResidency, Pediatrics, 1976 - 1980
  • University of Wisconsin School of Medicine & Public Health
    University of Wisconsin School of Medicine & Public HealthClass of 1976

Certifications & Licensure

  • WI State Medical License
    WI State Medical License 1977 - 2025
  • American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
  • American Board of Medical Genetics and Genomics Clinical Genetics
  • American Board of Pediatrics Pediatrics

Awards, Honors, & Recognition

  • Elected Member The American Society for Clinical Investigation, 1988

Clinical Trials

Publications & Presentations

PubMed

Journal Articles

  • Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease  
    Carlos A Bacino, Vandana Shashi, Euan A Ashley, Cynthia J Tifft, William A Gahl, Brendan H Lee, John J Mulvihill, Rizwan Hamid, Matthew T Wheeler, Jonathan A Bernstein..., The New England Journal of Medicine
  • Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense Variant  
    William A Gahl, Dong Chen, Koyamangalath Krishnan, Wendy J Introne, American Journal of Medical Genetics Part A
  • Skeletal Consequences of Nephropathic Cystinosis*  
    Rachel I Gafni, Mary Scott Ramnitz, Michael T Collins, Dorothy Bulas, William A Gahl, Galina Nesterova, Isidro B Salusky, Journal of Bone and Mineral Research

Lectures

  • Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild BleedingClinically Relevant Abstract 
    2018 ASH Annual Meeting - San Diego, CA - 12/1/2018

Press Mentions

  • Addressing Massive Health Inequities on Rare Disease Day
    Addressing Massive Health Inequities on Rare Disease DayFebruary 22nd, 2022
  • ‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28
    ‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28October 7th, 2021
  • Mystery Cases: What Happens When Modern Medicine Lacks a Diagnosis or Cure?
    Mystery Cases: What Happens When Modern Medicine Lacks a Diagnosis or Cure?June 18th, 2021
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Grant Support

  • Nhgri/Dir Bioethics CoreNational Human Genome Research Institute2010–2011
  • Nhgri/Dir Clinical Support ServicesNational Human Genome Research Institute2009–2011
  • Human Biochemical GeneticsNational Human Genome Research Institute2009–2011
  • Cell Biology Of Metabolic DisordersNational Human Genome Research Institute2009–2011
  • Nhgri/Dir Clinical Support ServicesNational Human Genome Research Institute2008
  • Cell Biology Of Metabolic DisordersNational Human Genome Research Institute2007–2008
  • Human Biochemical GeneticsNational Human Genome Research Institute2003–2008
  • Clinical Heterogenity In Patients With Congenital Disorders Of GlycosylationNational Human Genome Research Institute2007
  • Human Biochemical GeneticsEunice Kennedy Shriver National Institute Of Child Health &Human Development1985–2002

Dr. William Gahl, Dr. William Gahl, MD, Dr. W Gahl, Dr. William Allen Gahl