Kenneth H. Kraemer, M.D.

Kenneth H. Kraemer, M.D.
Senior Investigator
Laboratory of Cancer Biology and Genetics

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

1) DNA repair, 2) UV damage, 3) skin cancer, 4) primary melanoma, 5) xeroderma pigmentosum, 6) trichothiodystrophy

Contact Info

Kenneth H. Kraemer, M.D.
Center for Cancer Research
National Cancer Institute
Building 37, Room 4002
Bethesda, MD 20892
Ph: 240-760-6139
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).

NIH 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. Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.
    Oetjen KA, Levoska MA, Tamura D, Ito S, Douglas D, Khan SG, Calvo KR, Kraemer KH, DiGiovanna JJ.
    Haematologica. 105(4): e144-e146, 2020. [ Journal Article ]
  2. Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites.
    Cohen JI, Manoli I, Dowdell K, Krogmann TA, Tamura D, Radecki P, Bu W, Turk SP, Liepshutz K, Hornung RL, Fassihi H, Sarkany RP, Bonnycastle LL, Chines PS, Swift AJ, Myers TG, Levoska MA, DiGiovanna JJ, Collins FS, Kraemer KH, Pittaluga S, Jaffe ES.
    Blood. 133(26): 2753-64, 2019. [ Journal Article ]
  3. Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
    Pugh J, Khan SG, Tamura D, Goldstein AM, Landi MT, DiGiovanna JJ, Kraemer KH.
    JAMA Dermatol. 155(1): 72-78, 2019. [ Journal Article ]
  4. Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype..
    Elizabeth R. Heller, Sikandar G. Khan, Deborah Tamura, John J. DiGiovanna, and Kenneth H. Kraemer
    Journal of Investigative Dermatology . 136: 734 - 741, 2015. [ Journal Article ]
  5. GTF2E2 mutations destabilizing the general transcription factor complex TFIIE in two individuals with DNA repair proficient trichothiodystrophy.
    Christiane Kuschal, Elena Botta, Donata Orioli, John J. DiGiovanna, Sara Seneca, Kathelijn Keymolen, Deborah Tamura, Elizabeth Heller, Sikandar G. Khan, Giuseppina Caligiuri, Manuela Lanzafame, Tiziana Nardo, Roberta Ricotti, Fiorenzo A. Peverali, Robert Stephens, Yongmei Zhao, Alan R. Lehmann, Laura Baranello, David Levens, Kenneth H. Kraemer, and Miria Stefanini
    American Journal of Human Genetics. 98: 627-642, 2016. [ 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
Laila Al-Eryani Ph.D. Postdoctoral Fellow (Visiting)
John J. DiGiovanna M.D. Senior Research Physician
Sandra Folarin Postbaccalaureate Fellow (CRTA)
Elizabeth Heller Rizza M.D. Clinical Fellow
Sikandar G. Khan, Ph.D. Staff Scientist
Samuel Kouamen Kouatcheu Postbaccalaureate Fellow (CRTA)
Deborah E. Tamura R.N., M.S. Senior Clinical Research Nurse
Xiaoling (Charlene) Zhou Ph.D. Biologist

Resources

COVID-19 advice letter for children in XP TTD CS study 

COVID-19 advice letter for special needs children in XP TTD CS study 

Information on COVID-19 and Living with the Social Consequences of the Infection

Coronavirus FAQ from the CDC - information from the Centers of Disease Control and Prevention.

Dealing with Stress, Anxiety, and Grief During COVID-19 - a wonderful conversation between NIH Director, Dr. Francis Collins, and Dr. Joshua Gordon, Director of the National Institute of Mental Health (NIMH) on dealing with stress, grief and anxiety during COVID-19. 

Supporting Mental Health During the COVID-19 Pandemic - link to the NIMH website section addressing some of the emotional issues occurring while living with the COVID-19 pandemic. There are links to other sites for additional information on dealing with stress.

Services for Children with Disabilities

Are Special Education Services Required in the Time of COVID-19? - Link to the American Bar Association statement on special education services and COVID-19. Contains suggestions for parents of special needs children who are experiencing disruption of services.

Responsibilities of local educational districts to children with special needs - This is a statement from the Federal Department of Education describing the responsibilities of local educational districts to children with special needs.

Center for Parent Information & Resources - Online center for parents who have children with disabilities. Provides information on COVID-19 and special education needs. We understand that social isolation, reduction in physical activity, unpredictability and changes in routine can all contribute to increasing stress. People living with DNA repair conditions often have some aspects of physical distancing. However, missing out on school activities, therapies or being required to attend school classes and work from home can feel isolating.

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