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Birgit H. Funke, PhD arrow Phone: 617-768-8467

 

 

 

       

 

Assistant Molecular Pathologist
Director of Clinical Research and Development
Laboratory for Molecular Medicine
Massachusetts General Hospital

Assistant Professor in Pathology
Harvard Medical School

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Molecular Diagnostics

 

Research Interests

Dr. Funke focuses on genetic testing with emphasis on genetically heterogeneous cardiovascular diseases (inherited cardiomyopathies and congenital cardiovascular malformations). Her goal is to define the genetic basis for these disorders and to develop truly comprehensive tests by using new emerging molecular technologies. In addition, she is interested developing genetic tests for common, complex disorders.

Selected Publications

  1. Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol. 2010, 55:320-9.
  2. Yang Z, Funke BH, Cripe LH, Vick GW 3rd, Mancini-Dinardo D, Peña LS, Kanter RJ, Wong B, Westerfield BH, Varela JJ, Fan Y, Towbin JA, Vatta M.  LAMP2 in patients with Danon disease. Circ Cardiovasc Genet 2010, Vol 3: 129-137.
  3. Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH. A novel custom resequencing array for dilated cardiomyopathy. Genet Med. 2010; 12: 268-78.
  4. Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, Levan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH. Evaluation of Second Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications. J. Mol Diagn. 2010; 12:818-27
  5. Olive M, Harten I, Mitchell R, Beers J, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging. Arterioscler Thromb Vasc Biol. 2010; 30:2301-9.
  6. Jordan DM, Kiezun A, Baxter S, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH *, Sunyaev S*. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet 2011, 88:183-92. *Contributed equally. 
  7. Aronson SJ, Clark EH, Babb LJ, Baxter S, Farwell LM, Funke BH, Lovelette Hernandez A, Joshi VA, Lyon E, Parthum AR, Russell FJ, Varugheese M, Venman, TC, Rehm, HL. The GeneInsight Suite:  A Platform to Support Laboratory and Provider Use of DNA based Genetic Testing. Hum Mut 2011, 32:532-6. 
  8. Wells QS, Ausborn NL, Funke BH, Pfotenhauer JP, Fredi JL, Baxter S, DiSalvo TD, Hong CC. Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant. Cardiogenetics 2011, 1:e10
  9. Neal K. Lakdawala, MD*,§, Birgit H. Funke, PhD*,†,‡, Samantha Baxter, MS, CGC†, Allison L. Cirino, MS, CGC§, Amy E. Roberts, MD||, Daniel P. Judge, MD#,  Nicole Johnson, MS, CGC#, Nancy J. Mendelsohn, MD**, Chantal Morel, MD††,  Melanie Care, MS, CGC††, Wendy K. Chung, MD§§, Carolyn Jones, MD, PhD||||, Apostolos Psychogios, MD##,  Elizabeth Duffy†, Heidi L. Rehm, PhD†,‡, Emily White, MS†, J.G. Seidman, PhD***, Christine E. Seidman, MD§,†††,***, and Carolyn Y. Ho, MD§. Genetic Testing for Dilated Cardiomyopathy in Clinical Practice. J Card Fail 2012, in press.
    10. Neal K. Lakdawala, MD*, Jeffery Winterfield, MD† and Birgit Funke, PhD§ Dilated Cardiomyopathy - Arrhythmogenic Disorders of Genetic Origin. Circulation: Arrhythmia and Electrophysiology 2012 in press.

Contact

Laboratory for Molecular Medicine
Massachusetts General Hospital
65 Landsdowne St.
Cambridge, MA 02139

Phone: 617-768-8467
Fax: 617-786-8513
Email: bfunke@partners.org