Fuki Hisama
Medical Genetics
Adjunct Professor
Program Director, Medical Genetics Residency Program
Medical Director, UW Genetic Medicine Clinic
Fellow of the American College of Medical Genetics
Fellow of the American Academy of Neurology

Faculty Information


Dr. Hisama is board-certified in both Clinical Genetics as well as Neurology.  She has been at UW since 2009, and is nationally recognized as a leader in the field of Medical Genetics practice and education. She serves on the board of directors  of the American Board of Medical Genetics and Genomics,  the Program Committee of the American College of Medical Genetics, the Medical Genetics Residency Review Committee of the Accreditation Council of Graduate Medical Education, and be the 2017-19 Chair of the Neurogenetics Section of the American Academy of Neurology.

Education & Training: 
University of Chicago Pritzker School of Medicine
Internship, Internal Medicine
Neurology Residency
Yale New Haven Hospital
Postdoctoral fellowship in Human Genetics
Yale University
Clinical Genetics Fellowship
Yale New Haven Hospital
Phi Beta Kappa
Lucille P. Markey Physician Scientist Fellowship
Hellman Family Foundation Fellowship
Paul Beeson Physician Faculty
Seattle Magazine Top Doctor
(206) 598-4030
Mailing Address: 

University of Washington
Division of Medical Genetics

Box 357720
Seattle, WA 98195-7720

Research & Clinical Interests
Research Interests: 

Long standing research interest in the genetics of aging (Werner syndrome), and pediatric and adult neurogenetic diseases. Her current research interests include clinical utility of exome sequencing, the genetics of autism and other neurological disorders, and atypical progeroid syndromes (premature aging).

Clinical Interests: 

Broad and encompass translation of exome sequencing into clinical care, cancer genetics, neurogenetics, cardiac genetics, and genetics of autism.


(from greater than 60)

Shaw C, Hisama F, Friedman J, Bird T. ADCY5-Related Dyskinesia. 2014 Dec 18. In: Pagon RA,Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK263441/  


Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G,Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for  the integration of genomics into clinical practice.  Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Review. PMID: 27171546


 Purizaca-Rosillo N, Mori T, Benites-Cóndor Y, Hisama FM, Martin GM, Oshima J. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Am J Med Genet A. 2017 Feb;173(2):471-478. Doi 10.1002/ajmg.a.38053. PMID:  27868354


You can view all of Dr. Hisama's publications via PubMed.