Case Studies In Genetics

National Library Of Medicine

Investigators

Linked publications & trials

Abstract

During my career I have worked on several projects creating software (FASTLINK, CASPAR, rh_tsp_map,[unreadable] PedHunter, etc.) and a database (Anabaptist Genealogy database) for genetic studies.[unreadable] My association with this software and a past track record of effective collaboration[unreadable] with wet lab scientists leads to more and more such collaborations.[unreadable] Two highlights from the past year are:[unreadable] -- publication in the September 2006 issue of Genome Research of a paper showing that[unreadable] a large deletion disrupting the LIX1 gene causes spinal muscular atrophy in cats.;[unreadable] -- the discovery of the gene mutated in some cases of severe congenital neutropenia[unreadable] including those in the original family published by Kostmann in 1956.[unreadable] [unreadable] The cat SMA work is part of a longstanding collaboration with Dr. Marilyn Menotti-Raymond (NCI).[unreadable] The pedigree in this particular study was developed and phenotyped by Prof. John Fyfe;[unreadable] I have also been collaborating with Prof. Fyfe on some dog genetic[unreadable] studies.[unreadable] [unreadable] The neutropenia work is part of a longstanding collaboration with Dr. Bodo Grimbacher[unreadable] (U. Freiburg, GERMANY) on human immunodeficiencies. Our work on neutropenia, including[unreadable] a paper on Hermansky-Pudlak syndrome type 2 published int he July 1 issue of[unreadable] Blood, is led by Prof. Christoph Klein (Hannover Medical School, GERMANY).