Topic: Savior Siblings and the First Human Cord Blood Transplant in a Fanconi Anemia Patient

Dr. Auerbach's research has focused on Fanconi anemia (FA), a genetically heterogeneous recessively inherited syndrome characterized by developmental abnormalities, life-threatening bone-marrow failure and predisposition to a variety of cancers, particularly acute myelogenous leukemia and squamous cell carcinomas. When she joined Rockefeller University in 1982, she founded the International Fanconi anemia Registry (IFAR) which has been maintained at Rockefeller since that time. The IFAR aims to elucidate clinical and genetic features in FA to better define the phenotype of this heterogeneous disorder and differentiate it from other syndromes with overlapping features. The IFAR now has more than 1200 families representing about 4500 people—a rich resource for such a rare disease.

Dr. Auerbach's early research, before identification of any FA genes, demonstrated that hypersensitivity to the DNA cross-linking agent diepoxybutane (DEB) could be used as a cellular marker for the disease, facilitating prenatal as well as postnatal diagnosis. The work on the prenatal diagnosis of Fanconi anemia played a major role in the use of this syndrome as a model for the development of umbilical cord blood transplantation as an alternative to bone marrow transplantation in the treatment of hematologic disorders, as well as the use of PGD/IVF to select embryos as potential healthy HLA-matched sibling donors. The first human cord blood transplant was in an FA patient in 1988; the patient is still alive and well after 35 years.
As part of a consortium effort, Dr. Auerbach and her colleagues identified the gene for complementation group A (FANCA), which accounts for 65 percent of Fanconi anemia cases. Dr. Auerbach and her colleagues have played a major role in the identification of 6 additional FA genes: FANCJ/BRIP1, FANCN/PALB2, FANCI, FANCP/SLX4, FANCR/RAD51 and FANCT/UBE2T. The FA genes all encode unique proteins involved in maintenance of DNA stability. Among the 22 Fanconi proteins that have been identified, BRCA1 (FANCS), BRCA2 (FANCD1), PALB2, BRIP1 and RAD51C (FANCO) are known to predispose heterozygous carriers to breast cancer. The IFAR cell repository should be very valuable for future studies to understand the role of the FA genes in cancer.

CAREER
Dr. Auerbach received her bachelor's degree from William Smith College in 1957, her M.A. from Columbia University in 1958, and her Ph.D. from New York University in 1977. Following a postdoctoral fellowship at Memorial Sloan-Kettering Cancer Center, followed by a position as Research Associate, she joined Rockefeller University in 1982 as an Assistant Professor in the Laboratory for Investigative Dermatology, and she has been at Rockefeller since then. She became the Director of the Program in Human Genetics and Hematology in 1995, which focuses on Far esearch. Dr. Auerbach is the recipient of numerous awards during her career at Rockefeller, including the Basil O'Connor Starter Research Award of the March of Dimes Birth Defects Foundation, MERIT Award of the National Heart, Lung, and Blood Institute, and Founder Award, Lifetime Achievement, and several Discovery awards from the Fanconi Anemia Research Fund. Auerbach served a three-year term as an American Society for the Advancement of Science (AAAS) Council Delegate from the Section on Medical Sciences, and in 2006 was appointed as a Fellow of the AAAS. She was on the Scientific Advisory Board of the Human Variome Project (HVP) since its inception in 2010; HVP has recently merged with HUGO. The vision of the HVP has been to be to establish and maintain standards, systems and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease. She is also a Founding Fellow of the American College of Medical Genetics and has served on the Editorial Boards of several journals.

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