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Albert de la Chapelle, MD, PhD


Albert de la Chapelle, MD, PhD

Albert de la Chapelle, MD, PhD
Distinguished University Professor, Department of Molecular Virology, Immunology & Medical Genetics and Department of Internal Medicine
 

Phone: (614) 688-4781
Fax: (614) 688-4772
albert.delachapelle@osumc.edu


Special Interests
Research in Dr. de la Chapelle’s laboratory focuses on the mapping, cloning, and characterization of high- and low-penetrance genes for cancer predisposition. When new genes are identified, studies are directed to determine the pathophysiological role of the proteins or RNA molecules they encode, and the mechanisms by which mutations in the genes contribute to the cancer phenotype. Finally, there is an emphasis on translational aspects of the research, viz. the exploitation of laboratory discoveries towards new diagnostic and therapeutic procedures. Diseases under study include colorectal cancer, papillary thyroid cancer, acute myeloid leukemia and chronic lymphocytic leukemia. Colorectal cancer is highly heritable; but only a fraction of all predisposing genes have been detected so far. Even so, screening all colorectal and endometrial cancer patients for mutations in the mismatch repair genes (Lynch syndrome) is practically feasible and desirable, because it can save lives through clinical surveillance of targeted high-risk family members. A method of population-wide screening for Lynch syndrome has been developed and its nationwide use is being encouraged. In papillary thyroid cancer predisposing germline mutations are sought by a variety of methods, including linkage, allelic association, and the determination of allelic differences in gene expression. The role of non-coding RNA genes is emerging as a major cause of predisposition to papillary thyroid cancer. One microRNA, 146a, has been implicated. Carriers of a single nucleotide polymorphism in the pre-miR146a sequence have an elevated risk of thyroid cancer. The underlying mechanism is being investigated. Moreover, several novel candidate genes are investigated that predispose to thyroid cancer. Second-generation deep sequencing is replacing previously used methods in the search for deleterious mutations. In acute myeloid leukemia the group cloned a novel gene, BAALC for Brain and Acute Leukemia, Cytoplasmic that is expressed in early hematopoietic progenitor cells, and in a subset of the acute myeloid and lymphoid leukemias. Ongoing studies aim at understanding the precise role of BAALC in leukemogenesis. The working hypothesis is that BAALC is a marker of, or even a contributor to, blocked differentiation of these cells. In chronic lymphocytic leukemia the role of the proapoptotic gene DAPK1 is investigated, and in families with several affected individuals novel predisposing genes are sought by second-generation deep sequencing.

Education
MD, University of Helsinki, Finland, 1957
PhD, Human Genetics, Univ. of Helsinki, Finland, 1962
Internship/Residency: University of Helsinki, Finland, 1965
Postdoctoral Training: Biochemistry, Columbia University, 1968
Subspecialty Training: University of Helsinki, Finland, 1986

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