This is unpublished


Residency Program
Clinical Genetics
Genetics of Aging
Professor, Medical Genetics
Adjunct Professor, Neurology
Fellow of the American College of Medical Genetics
Fellow of the American Academy of Neurology
Medical Director, UW Genetic Medicine Clinic
Program Director, Medical Genetics Residency Program
Sites of Practice
Adult Genetics Clinic at UWMC


Dr. Hisama is the Medical Director of the Adult Genetics Clinic at UWMC, the Program Director of the training programs in Medical Genetics and is nationally recognized as a leader in Medical Genetics practice and education. She has served on the Board of Directors of the American Board of Medical Genetics and Genomics, chaired the genetics residency review committee of the ACGME, and is on the Board of Directors of the American College of Medical Genetics and Genomics. 

Education & Training: Dr. Hisama graduated from the University of Chicago Pritzker School of Medicine, completed her internship at Northwestern University Medical Center, her neurology resident, genetics fellowship and research training at Yale University. She is dual board-certified in Neurology and Clinical Genetics.

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.



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:  


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


Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM; ACMG Board of Directors. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1. PMID: 34211152.