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Faculty Detail    
Name BRUCE R KORF
Wayne H. and Sara Crews Finley Chair in Medical Genetics
Chief Genomics Officer, UAB Medicine
Co-Director, UAB-HudsonAlpha Center for Genomic Medicine
Associate Director for Rare Diseases, Hugh Kaul Personalized Medicine Institute		  
Campus Address KAUL 230 Zip 0024
Phone  (205) 996-9487
E-mail  bkorf@uab.edu
Other websites www.uab.edu/medicine/genetics
     

Education
Undergraduate  Cornell University    1974  AB 
Graduate  The Rockefeller University    1979  PhD 
Medical School  Cornell University    1980  MD 
Residency  Boston Children's Hospital    1982  Pediatrics 
Residency  Harvard-Longwood Neurology Training Program    1985  Child Neurology 
Fellowship  Harvard Medical School Genetics Training Program    1985  Medical Genetics, Cytogenetics, Molecular Genetics 

Certifications
Clinical Cytogenetics  1984 
Clinical Genetics  1984 
Neurology (Child Neurology)  1986 
Pediatrics  1988 
Clinical Molecular Genetics  1993 


Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Genomics  Genomics Professor

Graduate Biomedical Sciences Affiliations
Cancer Biology 
Genetics, Genomics and Bioinformatics 
Hughes Med-Grad Fellowship Program 
Integrative Biomedical Sciences 
Integrative Genetics Graduate Program 
Neuroscience 

Biographical Sketch 
Dr. Korf is Wayne H. and Sara Crews Finley Chair in Medical Genetics, Chief Genomics Officer, UAB Medicine, Associate Director for Rare Diseases, Hugh Kaul Personalized Medicine Institute, and Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine. He is a medical geneticist, pediatrician, and child neurologist, certified by the American Board of Medical Genetics (clinical genetics, clinical cytogenetics, clinical molecular genetics), American Board of Pediatrics, and American Board of Psychiatry and Neurology (child neurology). Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. He chairs the Medical Advisory Committee of the Children’s Tumor Foundation and serves on the CTF Board of Directors. His major research interests are molecular diagnosis of genetic disorders and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), Medical Genetics at a Glance (medical student textbook, now in third edition), Emery and Rimoin’s Principles and Practice of Medical Genetics (now in 6th edition), and Current Protocols in Human Genetics. Dr. Korf is the incoming editor (2018) of the American Journal of Human Genetics.

Society Memberships
Organization Name Position Held Org Link
ACMG Foundation for Genetic and Genomic Medicine  President   
American College of Medical Genetics  President (former)   
American Society of Human Genetics  Board of Directors (former)   
Association of Professors of Human and Medical Genetics  President (former)   
National Human Genome Research Institute  Board of Scientific Counselors (former)   
 



Research/Clinical Interest
Title
Neurofibromatosis Type 1
Description
I have a longstanding research interest in neurofibromatosis type 1. I am involved in studies of genotype-phenotype correlations and clinical trials using molecularly-targeted therapies. We are also developing new animal models that incorporate human NF1 mutations and are using these to identify drugs that may partially restore function to the mutated gene or gene product. In addition, I am involved in developing approaches for the integration of genetics and genomics into medical practice. I am co-PI of the Clinical Sequencing Exploratory Research Project "SouthSeq" and also contact PI for the Southern All of Us Network. I am also co-PI of the Alabama Genomic Health Initiative.

Selected Publications 
Publication PUBMEDID
Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.
Payne JM, Barton B, Ullrich NJ, Cantor A, Hearps SJ, Cutter G, Rosser T, Walsh KS, Gioia GA, Wolters PL, Tonsgard J, Schorry E, Viskochil D, Klesse L, Fisher M, Gutmann DH, Silva AJ, Hunter SJ, Rey-Casserly C, Cantor NL, Byars AW, Stavinoha PL, Ackerson JD, Armstrong CL, Isenberg J, O'Neil SH, Packer RJ, Korf B, Acosta MT, North KN; NF Clinical Trials Consortium.
Neurology. 2016 Dec 13;87(24):2575-2584. Epub 2016 Nov 9. 		 27956565 
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT.
Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. 		 27854360 
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
Hollenbeck D, Williams CL, Drazba K, Descartes M, Korf BR, Rutledge SL, Lose EJ, Robin NH, Carroll AJ, Mikhail FM.
Genet Med. 2017 Apr;19(4):377-385. doi: 10.1038/gim.2016.132. Epub 2016 Sep 15. 		 27632688 
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
Li K, Turner AN, Chen M, Brosius SN, Schoeb TR, Messiaen LM, Bedwell DM, Zinn KR, Anastasaki C, Gutmann DH, Korf BR, Kesterson RA.
Dis Model Mech. 2016 Jul 1;9(7):759-67. doi: 10.1242/dmm.025783. Epub 2016 Jun 2. 		 27482814  
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome.
Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.
JAMA. 2009 Nov 18;302(19):2111-2118. 		 19920235 
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
Boyd KP, Gao L, Feng R, Beasley M, Messiaen L, Korf BR, Theos A.
J Am Acad Dermatol. 2010 Sep;63(3):440-7. Epub 2010 Jun 3. 		 20605257 
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.
Am J Med Genet A. 2011 Oct;155A(10):2386-96. 		 22031302 
Competencies for the physician medical geneticist in the 21st century.
Korf BR, Irons M, Watson MS.
Genet Med. 2011 Nov;13(11):911-2. No abstract available. 		 22075526 
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ.
Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15. 		 22422049 
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2013. Epub 2013/12/24. doi: 10.1038/ng.2855.  24362817 
Korf BR, Rehm HL. New approaches to molecular diagnosis. JAMA. 2013;309(14):1511-21. doi: 10.1001/jama.2013.3239.  23571590 
Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames.
Cunha KS, Rozza-de-Menezes RE, Andrade RM, Theos A, Luiz RR, Korf B, Geller M.
Orphanet J Rare Dis. 2014 Dec 5;9:202. doi: 10.1186/s13023-014-0202-9. 		 25475340 
Clinical response to bevacizumab in schwannomatosis.
Blakeley J, Schreck KC, Evans DG, Korf BR, Zagzag D, Karajannis MA, Bergner AL, Belzberg AJ.
Neurology. 2014 Nov 18;83(21):1986-7. doi: 10.1212/WNL.0000000000000997. Epub 2014 Oct 22. 		 25339217 
Prenatal whole-genome sequencing--is the quest to know a fetus's future ethical?
Yurkiewicz IR, Korf BR, Lehmann LS.
N Engl J Med. 2014 Jan 16;370(3):195-7. doi: 10.1056/NEJMp1215536. 		 24428465 
Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study. Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher MJ.
Neuro Oncol. 2015 Apr;17(4):596-603. doi: 10.1093/neuonc/nou235. Epub 2014 Oct 14. 		 25314964 
Global implementation of genomic medicine: We are not alone.
Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, W Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, L Wong JE, Green ED, Ginsburg GS.
Sci Transl Med. 2015 Jun 3;7(290):290ps13. Review. 		 26041702 
How to know when physicians are ready for genomic medicine.
Vassy JL, Korf BR, Green RC.
Sci Transl Med. 2015 May 13;7(287):287fs19. doi: 10.1126/scitranslmed.aaa2401. 		 25971999 
Partial trisomy 21: A fifty-year follow-up visit.
Hamm JA, Carroll AJ, Mikhail FM, Korf BR, Finley WH.
Am J Med Genet A. 2015 Jul;167(7):1610-3. doi: 10.1002/ajmg.a.37031. Epub 2015 May 5. 		 25944586 
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.
Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L.
Am J Med Genet A. 2015 Apr 21. doi: 10.1002/ajmg.a.37089. [Epub ahead of print]
 		 25900621 
Spinal neurofibromatosis and phenotypic heterogeneity in NF1.
Korf BR.
Clin Genet. 2015 May;87(5):399-400. doi: 10.1111/cge.12532. 		 25865364 
Pushing the envelope in genomics education.
Korf, BR.
Genet Med. 2015 Mar 19. doi: 10.1038/gim.2015.20. [Epub ahead of print] No abstract available. 		 25790159 
 

Keywords
neurofibromatosis; neurogenetics; molecular diagnosis, genomic medicine