Arleen Auerbach E-mail

Arleen AuerbachCurrent Academic Appointments

Director, Program in Human Genetics and Hematology, The Rockefeller University. Consultant to Laboratory of Genome Maintenance,The Rockefeller University (Agata Smogorzewska, M.D., Ph.D., Head). Clinical Genetic Consultant, The Rockefeller University Hospital, New York.

Recent Honors and Awards

MERIT Award, National Heart, Lung, and Blood Institute
2002 Fanconi Anemia Research Fund: Lifetime Achievement Award
2005 Fanconi Anemia Research Fund: Discovery Award
2005 Fanconi Anemia Research Fund: Founder Award
2006 AAAS Fellow
2007 Fanconi Anemia Research Fund: Discovery Award

Dr Auerbach initiated and is responsible for the curation and maintenance of the Fanconi Anemia Mutation Database, a locus-specific database (LSDB) which is devoted to the collection of mutations in all FA genes (currently 13 genes). This database, started at Rockefeller University in 1997, is an open resource for the international FA genetics research community. The database was redeveloped in collaboration with Johan den Dunnen in 2005, and is currently hosted at Leiden University Medical Center. The FA database is one of many LSDBs encouraged by the Human Genome Variation Society.

Dr Auerbach has been a long-time supporter of the effort that has evolved into the Human Variome Project. As there was no systematic or structured effort to collect mutations, a 1994 Montreal meeting of a group of geneticists resolved that collection and curation of mutation data is best done by a federation of LSDB curators, each experts in their gene, rather than by informatics/database experts centrally. This led to the formation of the HUGO-Mutation Database Initiative (MDI) at the Human Genome Meeting HGM1996 in Heidelberg, Germany, at which time Dr Auerbach became active in this effort. Subsequently (2001), the MDI developed into the Human Genome Variation Society (HGVS) with Human Mutation as its society journal. Dr Auerbach was a leader in the HUGO-MDI, attended all annual meetings, and has been on the Board of Directors of the HGVS since its inception. In 1998 Dr Auerbach was responsible for the development of Quality Control for the collection of mutations in LSDBs. Dr Auerbach initiated the development of a form which asks questions that enable the curator to assess the status of the data attributing disease causation to a base change. It is currently recommended by HGVS that this form be used by databases collecting mutations and polymorphisms, particularly the LSDBs. Despite limited funding, enormous progress has been made by members of the Society. When the HVP was intitiated, Dr Auerbach became a member of the Scientific Organizing Committee.