Announcement from Dr. Rader: Death of Haig H Kazazian, Jr, MD

Posted On: January 25, 2022


It is with profound sadness that I announce our dear colleague, Haig Kazazian, died on January 20, 2022, in Towson, MD at the age of 84. Haig served as the Chair of the Department of Genetics at Penn from 1994 – 2006.

Haig attended Dartmouth as an undergraduate and for his preclinical years of medical school, and then completed medical school at Johns Hopkins. He trained in Pediatrics at the University of Minnesota and then returned to Johns Hopkins for training in genetic research under the mentorship of Bill Young and Barton Childs, where he worked on X chromosome inactivation. After spending 2.5 years at intramural NIH working on the regulation of hemoglobin production in the lab of Harvey Itano, Haig returned to Johns Hopkins to join the faculty at the medical school. Early in his career at Hopkins, Haig made discoveries toward the understanding of the genetic basis for an array of hemoglobinopathies. In particular, he defined a subset of the genetic mutations underlying several of the β-thalassemias, refined and brought into clinical practice methods of prenatal detection of sickle cell anemia, and worked on the team that coined the term ‘haplotype’, first used in DNA context in 1982 to describe tightly linked subsets of restriction site polymorphisms that were associated with defined pathogenic mutations in the β -globin gene. He then used these haplotypes to classify β-thalassemia mutations in patients from countries worldwide and to carry out prenatal detection of β-thalassemia in families with previously affected children. At the same time, Haig began investigating the then recently cloned factor VIII gene that is mutated in hemophilia A. His lab discovered that a subset of these mutations reflected insertions from L1 (LINE-1) repetitive elements, transposable elements known as “jumping genes”, into the factor VIII locus. From that point on, Haig dedicated his career to studying the biology of LINE-1 retrotransposons in humans and mice.

Haig was recruited to Penn in 1994 as Chair of the Department of Genetics. He oversaw a significant increase in both the size of the department and overall NIH funding. Haig recruited 13 basic science research faculty to the department, including 6 of the current senior faculty. After serving as Chair, Haig remained on the faculty until moving his lab back to Hopkins in 2010.

It is of note that Haig was among the first plaintiffs to join the ACLU lawsuit in 2008 filed against Myriad Genetics and the US Patent Office challenging the validity of patenting of human genes. In 2013, the US Supreme Court ruled that genes themselves cannot be patented. Myriad Genetics could no longer carry out exclusive clinical testing of BRCA1 and BRCA2 genes, and since 2015 gene patents have not been permissible.

Haig was a world-renowned human geneticist with over 350 publications in the most prestigious academic journals, and was the Founding Co-Editor of Human Mutation, the official journal of the Human Genome Variation Society. Among many honors, he was recognized by the Mead Johnson Award for Pediatric Research from the National Hemophilia Foundation, was recipient of the William Allan Award from the American Society of Human Genetics, and he was elected to the National Academy of Sciences and the American Academy of Arts and Sciences.

Haig was a larger than life personality who had a huge impact on human genetics and on hundreds of trainees, faculty, and colleagues. Those that served with him in the department recall his infectious enthusiasm for science and fundamental research, his dedication to applying these studies to the understanding of human genetics and disease, and his warm and generous spirit. It was always a treat to bump into Haig in the hallway and share in his excitement and friendship. Many of us at Penn have fond memories of Haig as a scientist, chair, and colleague, and great appreciation for the impact he had on the Department of Genetics and on the genetics community at large at Penn. Haig is survived by his wife, Lilli; his children, Haig and Sonya; their spouses, Betsy and Dave; and five grandchildren.

Daniel J. Rader M.D.

Chair, Department of GeneticsChief, Division of Translational Medicine and Human GeneticsChief, Division of Human Genetics, Children’s Hospital of Philadelphia

Perelman School of Medicine at the University of Pennsylvania