Wendy

Raskind

MD

PhD

Education & Training

BA Mathematics, Brown University (1964)

PhD Genetics, University of Washington (1977)

MD, University of Washington (1978)

Internship and Residency, Internal Medicine, University of Washington (1978-1981)

Fellowship, Medical Genetics, University of Washington (1981-1983)

Research areas

The focus of Dr. Raskind’s research is the study of neurodegenerative and neurobehavioral disorders, both single gene and complex in etiology. A major endeavor is to identify genes involved in mendelian (single-gene) neurologic diseases, including ataxias, movement disorders, and neuropathies. We have generated cell and animal models to investigate the pathogeneses of these diseases an have a particular interest in the effect of different pathogenic variants on gene function.

The laboratory also has a strong interest in identification of genes responsible for dyslexia. To model and map genetic contributors to dyslexia, multigenerational families were collected and extensively characterized. Quantitative measures used in the clinical assessment of reading disabled children are studied individually and in combination. A recent approach is to evaluate at the whole genome level the genes reported to be associated with dyslexia phenotypes.

Clinical interests

Diagnosis and ongoing coordination of care for patients and families with hereditary cancer-risk syndromes.

publications

Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM: Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Molec Genet 8:743-749, 1999.

Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH: X-linked thrombocytopenia with thalassemia due to a mutation in the amino-finger of GATA-1 affecting DNA-binding rather than FOG-1 interaction. Blood 100:2040-2045, 2002.

Chen D-H, Brkanac Z, Verlinde CLMJ, Tan X-J, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Missense mutations in the regulatory domain of PKCgamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839-849, 2003.

Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet 84:692-697, 2009.

Chen Y-Z, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH: Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylate cyclase 5. Arch Neurol 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54. PMID: 22782511; PMCID: PMC3508680.

Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Molec Genet 22:3259-68, 2013.

Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Molec Genet 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. PMID: 2359588. PMCID: PMC3723311. 

Chen Y-Z, Friedman JR, Chen D-H, Chan G, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13. PMID: 24700542. PMCID: PMC4457323.

Chen DH, Below JE, Shimamura A, Matsushita M, Keel SB, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. PMID: 27259050. PMCID: PMC4908176.