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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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C. Thomas Caskey, M.D., F.A.C.P., F.R.S.C.

C. Thomas Caskey, M.D.

Professor of Molecular and Human Genetics


B.S., University of South Carolina, 1958
M.D., Duke University Medical School, 1963
Honorary, Chemistry, University of South Carolina, 1992


Dr. Caskey was the Director and CEO of the Brown Foundation Institute of Molecular Medicine at the University of Texas Health Science Center in Houston. Dr. Caskey previously served as Senior Vice President, Human Genetics and Vaccines Discovery at Merck Research Laboratories, West Point and as President of the Merck Genome Research Institute.

Dr. Caskey is Board Certified in Internal Medicine, Medical Genetics, and Molecular Genetics with 25 years of patient care experience in these specialties. He is a member of the National Academy of Sciences, Institute of Medicine, Royal Society of Canada, member & Chair of the Board on Health Sciences Policy - Institute of Medicine and past President of the American Society of Human Genetics and the Human Genome Organization, and Texas Academy of Medicine, Engineering and Science. He is an editor of the Annual Reviews of Medicine.

Dr. Caskey has received numerous academic and industry honors. His genetic research has identified the genetic basis of 10 major inheritable diseases and opened up the understanding of triplet repeat diseases (Fragile X, myotonic dystrophy and others). His personal identification patent is the basis of worldwide application for forensic science and he is also a consultant to the FBI in forensic science. His current research is focused on the genetic basis of schizophrenia.

Research Interests

My research has been focused over the past two years on discovery of Schizophrenia disease genes. Toward that objective we have collected families with multiple affected individuals, i.e. high genetic risk. We have used clinical classification, whole genome sequencing, bioinformatics analysis and metabolomics to make the discovery of candidate genes. We have now studied 19 families with identification of 22 candidate genes. One gene is a clear causative disease gene in two non-related families. These discoveries alter the direction of research to pathway analysis, diagnostics, and new therapeutics.

Selected Publications

  1. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Gonzalez-Garay ML, Caskey CT, et. al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25;15(3): R53. PubMed PMID: 24667040
  2. Gonzalez-Garay ML, McGuire AL, Pereira S, Caskey CT. Personalized genomic disease risk of volunteers. Proc Natl Acad Sci U S A. 2013 Oct 15; 110(42): 16957-62. doi: 10.1073/pnas.1315934110. PubMed PMID: 24082139
  3. Caskey CT, Gonzalez-Garay ML, Pereira S, McGuire AL. Adult genetic risk screening. Annu Rev Med. 2014; 65: 1-17. doi: 10.1146/annurev-med-111212-144716. PubMed PMID: 24188662
  4. Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013 Nov; 45(11): 1405-8. doi: 10.1038/ng.2776. PubMed PMID: 24076603
  5. Caskey CT (2010). Obituary: Marshall Nirenberg (1927-2010). Nature 464(7285): 44. PubMed PMID: 20203601
  6. Caskey CT (2010). Using genetic diagnosis to determine individual therapeutic utility. Annu. Rev. Med. 61: 1-15. PubMed PMID: 19824818
  7. Caskey CT (2007). The drug development crisis: efficiency and safety. Annu. Rev. Med. 58: 1-16. PubMed PMID: 17059362
  8. Bai C, Connolly B, Metzker ML, Hilliard CA, Liu X, Sandig V, Soderman A, Galloway SM, Liu Q, Austin CP, Caskey CT (2000). Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. Proc. Natl. Acad. Sci. U S A. 97(3): 1230-5. PubMed PMID: 10655513
  9. Brown SD, Twells RC, Hey PJ, Cox RD, Levy ER, Soderman AR, Metzker ML, Caskey CT, Todd JA, Hess JF (1998). Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family. Biochem. Biophys. Res. Commun. 248(3): 879-88. PubMed PMID: 9704021
  10. Caskey CT (1996). Gene patents--a time to balance access and incentives. Trends Biotechnol. 14(8): 298-302. PubMed PMID: 8987462
  11. Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT (1995). Full-length myotonin protein kinase (72 kDa) displays serine kinase activity. Proc. Natl. Acad. Sci. U S A 92(12): 5366-70. PubMed PMID: 7777513
  12. Ashizawa T, Wong LJ, Richards CS, Caskey CT, Jankovic J (1994). CAG repeat size and clinical presentation in Huntington's disease. Neurology 44(6): 1137-43. PubMed PMID: 8208412
  13. Redman JB, Fenwick RG Jr, Fu YH, Pizzuti A, Caskey CT (1993). Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA 269(15): 1960-5. PubMed PMID: 8464127
  14. Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66(4): 817-22. PubMed PMID: 1878973

Contact Information

C. Thomas Caskey, M.D., F.A.C.P.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza
Mail Stop: BCM225
Houston, TX, 77030, U.S.A.

Phone: 713-798-3174
Fax: 713-798-1167

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