PHILADELPHIA – Haig H. Kazazian, Jr., M.D., Seymour Gray Professor of Molecular Medicine in Genetics at the University of Pennsylvania School of Medicine, received the American Society of Human Genetics’ (ASHG) Allan Award at the Society’s 58th Annual Meeting, which was held this month in Philadelphia.
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The Allan Award recognizes substantial and far-reaching scientific contributions to human genetics, carried out over a lifetime of scientific inquiry and productivity. One of ASHG’s longest-standing awards, the Allan Award was established in 1961 in memory of William Allan, who was one of the first American physicians to conduct extensive research in human genetics.
“I feel incredibly grateful and proud to be named as the recipient of this year’s Allan Award,” says Kazazian. “Receiving this prestigious acknowledgement from my colleagues in the human genetics field is a tremendous honor.”
Throughout his career as a genetic scientist, Dr. Kazazian has made numerous seminal contributions in understanding and deciphering mechanisms that cause mutations leading to human disease. One such mechanism that he discovered is called a transposable element, or “jumping gene,” which is a segment of DNA that can move around to different positions in the genome of a single cell and cause mutations.
In his lifetime of scientific discoveries, Dr. Kazazian’s revolutionary research has had a significant impact on unraveling the genetic causes of human disease. His discoveries have benefited the public health by informing the creation of new and improved methods for diagnosing and treating genetic conditions.
Furthermore, Dr. Kazazian was also named as this year’s Allan Award recipient because of his active involvement in training and mentoring the next generation of basic science and clinical human genetics researchers. Dr. Kazazian’s exemplary efforts in this area have earned him an impressive record of former trainees who have gone on to become outstanding genetic scientists and academicians at the top medical schools throughout the world. Seven of his former students were previous recipients of ASHG Student Awards.
Dr. Kazazian received a $10,000 prize and an engraved medal. Immediately after receiving his award, Dr. Kazazian delivered the Allan Award Address. In his presentation, “On Jumping Fields and ‘Jumping Genes,’” Dr. Kazazian discussed two of the major discoveries that he has had in his career. First, he found that because of linkage disequilibrium, there is an association of chromosome haplotypes with disease-causing mutations. This linkage disequilibrium can be very helpful in characterizing the mutations in any single-gene disorder. His second discovery was that transposable elements are active in present-day human beings and when they "jump" they can cause disease. A manuscript of the 2008 Allan Award Address will be published in an upcoming issue of the American Journal of Human Genetics (AJHG).
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