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

Agency
National Institute of Health (NIH)
Institute
National Library of Medicine (NLM)
Type
Intramural Research (Z01)
Project #
1Z01LM000097-05
Application #
7316272
Study Section
(CBB)
Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
2006
Total Cost
Indirect Cost
Name
National Library of Medicine
Department
Type
DUNS #
City
State
Country
United States
Zip Code
Chattaraj, Parna; Munjal, Tina; Honda, Keiji et al. (2017) A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. J Med Genet 54:665-673
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