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In May of 1990, Deater  Foundation, Inc. was established in order to generate the monies needed to finance a FULL-TIME study of the Deater disease (a hereditary sensory neuropathy [HSN] thought to be peculiar to the descendants of Alvin and Ellen Deater). The hope was that a full time study would expedite the discovery of gene linkage which, in turn, would make possible new medical avenues such as genetic counseling, gene therapy, and/or treatment of the disease which has affected a great number of people in a very large family.
The Deater Foundation has provided funding support, and the researchers from the Day Neuromuscular Laboratory, which received the funding, were instrumental in the discovery of the HSN I g
ene. Families from Canada, Australia, and the United States of America were identified as having one of the expressions of the genetic defect causing HSN I. HSN 1, although not restricted to one family, is rare. Genetic counseling is now available. The Foundation continues to support research towards treatment and a cure.
Hereditary sensoy neuropathy type I is a dominantly inherited sensorimotor axonal neuropathy. HSN I is caused by mutations in the SPTLC1 gene, which maps to chromosome 9q22. (Online Medelian Ingeritance in Man, Johns Hopkins University). |
