Kenneth H. Kraemer, M.D.
Kenneth H. Kraemer, M.D.
Senior Investigator

We are investigating the role of DNA repair in prevention of cancer and in human development. We perform clinical, molecular, and translational investigations of two rare genetic disorders with defective DNA repair: xeroderma pigmentosum (XP) with clinical and cellular hypersensitivity to ultraviolet radiation and a 10,000-fold increased risk of skin cancer and trichothiodystrophy, a disorder with developmental abnormalities and defects in some of the same genes as XP without increased cancer risk. We recently found that the molecular changes in skin melanomas from the XP patients were closely related to sun exposure and different from the general population.

Areas of Expertise
DNA repair, UV damage, skin cancer, primary melanoma, xeroderma pigmentosum, trichothiodystrophy

Contact Info

Kenneth H. Kraemer, M.D.
Center for Cancer Research
National Cancer Institute
Building 37, Room 4002
Bethesda, MD 20892
301-496-9033
kraemerk@nih.gov

DNA Repair in Human Cancer-Prone Genetic Diseases

We are investigating the role of DNA repair in prevention of cancer and in human development. The approach involves integrated clinical, molecular, and translational investigations of disorders with defective DNA repair. Current studies are focusing on two rare genetic diseases: xeroderma pigmentosum (XP) a cancer-prone genetic disease with cellular hypersensitivity to ultraviolet radiation (UV) and defective DNA repair and trichothiodystrophy (TTD) a disorder with developmental abnormalities and defects in some of the same genes as XP without increased cancer risk.

The long-term goals are to: 1) define the molecular defects in these diseases, 2) characterize their clinical abnormalities and extent of phenotypic heterogeneity, 3) correlate the molecular defects with clinical abnormalities, 4) assess the altered molecular function, 5) identify and characterize the underlying mechanisms (pathophysiology) and how they lead to clinical disease, and 6) influence these processes by exploring methods of cancer prevention.

Collaborators on our research include Margaret Tucker, Human Genetics Program, Division of Cancer Epidemiology and Genetics, NCI; Brian Brooks, National Eye Institute (NEI); and Carmen Brewer, National Institute on Deafness and Other Communication Disorders (NIDCD).

Scientific Focus Areas:
Cancer Biology, Clinical Research, Genetics and Genomics, Molecular Biology and Biochemistry, Neuroscience

View Dr. Kraemer's PubMed Summary.

Selected Recent Publications
  1. Kuschal C, Digiovanna JJ, Khan SG, Gatti RA, Kraemer KH.
    Proc. Natl. Acad. Sci. U.S.A. 110: 19483-8, 2013. [ Journal Article ]
  2. Tan X, Anzick SL, Khan SG, Ueda T, Stone G, Digiovanna JJ, Tamura D, Wattendorf D, Busch D, Brewer CC, Zalewski C, Butman JA, Griffith AJ, Meltzer PS, Kraemer KH.
    Hum. Mutat. 34: 1250-9, 2013. [ Journal Article ]
  3. Lai JP, Liu YC, Alimchandani M, Liu Q, Aung PP, Matsuda K, Lee CC, Tsokos M, Hewitt S, Rushing EJ, Tamura D, Levens DL, Digiovanna JJ, Fine HA, Patronas N, Khan SG, Kleiner DE, Oberholtzer JC, Quezado MM, Kraemer KH.
    Acta Neuropathol Commun. 1: 4, 2013. [ Journal Article ]
  4. Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC.
    Brain. 136: 194-208, 2013. [ Journal Article ]
  5. Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, DiGiovanna JJ, Tucker MA, Kraemer KH.
    J. Med. Genet. 48: 168-76, 2011. [ Journal Article ]

Dr. Kraemer received his M.D. from Tufts Medical School and is board certified in dermatology and internal medicine. He has a longstanding interest in human cancer-prone genetic diseases and DNA repair. His studies focus on molecular, cellular, and clinical features of diseases including xeroderma pigmentosum and familial melanoma. He is a member of the American Society for Clinical Investigation and has received awards from the Society for Investigative Dermatology and the U.S. Public Health Service.

Name Position
Divya Angra Summer Student
Wenelia Baghoomian Summer Student
Melinda Chu Clinical Fellow
John J. DiGiovanna M.D. Staff Clinician
Elizabeth Heller Summer Student
Sikandar G. Khan, Ph.D. Staff Scientist
Christiane Kuschal Postdoctoral Fellow (Visiting)
Ryusuke Ono Visiting Fellow
Deborah Tamura R.N., M.S. Nurse Specialist
Carole Yee Special Volunteer

Clinical Trials

Research

DNA Repair in Human Cancer-Prone Genetic Diseases

We are investigating the role of DNA repair in prevention of cancer and in human development. The approach involves integrated clinical, molecular, and translational investigations of disorders with defective DNA repair. Current studies are focusing on two rare genetic diseases: xeroderma pigmentosum (XP) a cancer-prone genetic disease with cellular hypersensitivity to ultraviolet radiation (UV) and defective DNA repair and trichothiodystrophy (TTD) a disorder with developmental abnormalities and defects in some of the same genes as XP without increased cancer risk.

The long-term goals are to: 1) define the molecular defects in these diseases, 2) characterize their clinical abnormalities and extent of phenotypic heterogeneity, 3) correlate the molecular defects with clinical abnormalities, 4) assess the altered molecular function, 5) identify and characterize the underlying mechanisms (pathophysiology) and how they lead to clinical disease, and 6) influence these processes by exploring methods of cancer prevention.

Collaborators on our research include Margaret Tucker, Human Genetics Program, Division of Cancer Epidemiology and Genetics, NCI; Brian Brooks, National Eye Institute (NEI); and Carmen Brewer, National Institute on Deafness and Other Communication Disorders (NIDCD).

Scientific Focus Areas:
Cancer Biology, Clinical Research, Genetics and Genomics, Molecular Biology and Biochemistry, Neuroscience

Publications

View Dr. Kraemer's PubMed Summary.

Selected Recent Publications
  1. Kuschal C, Digiovanna JJ, Khan SG, Gatti RA, Kraemer KH.
    Proc. Natl. Acad. Sci. U.S.A. 110: 19483-8, 2013. [ Journal Article ]
  2. Tan X, Anzick SL, Khan SG, Ueda T, Stone G, Digiovanna JJ, Tamura D, Wattendorf D, Busch D, Brewer CC, Zalewski C, Butman JA, Griffith AJ, Meltzer PS, Kraemer KH.
    Hum. Mutat. 34: 1250-9, 2013. [ Journal Article ]
  3. Lai JP, Liu YC, Alimchandani M, Liu Q, Aung PP, Matsuda K, Lee CC, Tsokos M, Hewitt S, Rushing EJ, Tamura D, Levens DL, Digiovanna JJ, Fine HA, Patronas N, Khan SG, Kleiner DE, Oberholtzer JC, Quezado MM, Kraemer KH.
    Acta Neuropathol Commun. 1: 4, 2013. [ Journal Article ]
  4. Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC.
    Brain. 136: 194-208, 2013. [ Journal Article ]
  5. Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, DiGiovanna JJ, Tucker MA, Kraemer KH.
    J. Med. Genet. 48: 168-76, 2011. [ Journal Article ]

Biography

Dr. Kraemer received his M.D. from Tufts Medical School and is board certified in dermatology and internal medicine. He has a longstanding interest in human cancer-prone genetic diseases and DNA repair. His studies focus on molecular, cellular, and clinical features of diseases including xeroderma pigmentosum and familial melanoma. He is a member of the American Society for Clinical Investigation and has received awards from the Society for Investigative Dermatology and the U.S. Public Health Service.

Team

Name Position
Divya Angra Summer Student
Wenelia Baghoomian Summer Student
Melinda Chu Clinical Fellow
John J. DiGiovanna M.D. Staff Clinician
Elizabeth Heller Summer Student
Sikandar G. Khan, Ph.D. Staff Scientist
Christiane Kuschal Postdoctoral Fellow (Visiting)
Ryusuke Ono Visiting Fellow
Deborah Tamura R.N., M.S. Nurse Specialist
Carole Yee Special Volunteer