PROBE BASED ANALYSIS OF HETEROZYGOUS MUTATIONS USING TWO-COLOR LABELLING
US Patent 6,013,449
Filed on 1997-11-26
Filed on 1997-11-26
METHODS FOR DETECTING CERVICAL CANCER
US Patent 5,919,624
Filed on 1997-01-10
Filed on 1997-01-10
cDNAs Associated With Ataxia-Telangiectasia (as amended)
US Patent 5,777,093
Filed on 1995-07-28
Filed on 1995-07-28
Mutated Proteins Associated with Ataxia-Telangiectasia (as amended)
US Patent 5,728,807
Filed on 1995-06-21
Filed on 1995-06-21
Ataxia-Telangiectasia Gene
US Patent 5,756,288
Filed on 1995-05-16
Filed on 1995-05-16
SEQUENCE MODIFICATION OF OLIGONUCLEOTIDE PRIMERS TO MAINIPULATE NON-TEMPLATED NUCLEOTIDE ADDITION
United Kingdom
96936547.7
Filed on 1996-10-15
96936547.7
Filed on 1996-10-15
USE OF GENETIC MARKERS TO DIAGNOSE WOLFRAM SYNDOME
US Application 08/299,226
Filed on 1994-08-31
Filed on 1994-08-31
Excellence in Technology Transfer
For the development of gene therapy as a clinically useful procedure for training genetic diseases.
Awardee
National Human Genome Research Institute
- Dr. R. Michael Blaese
Treatment of Niemann-Pick Disease Type-C with 2-hydroxypropyl-β-cyclodextrin
Currently, there are no FDA-approved therapies for Niemann-Pick disease type-C1 (NPC). NPC is a rare lethal genetic lysosomal storage disorder that results in an accumulation of cholesterol in the liver and spleen and eventually leads to neurodegeneration. 2-hydroxypropyl-β-cyclodextrin (HPβCD) is a cyclodextrin typically used by the pharmaceutical industry as an excipient. Studies of NPC in animal models have shown that HPβCD can reduce the biochemical burden associated with NPC, improving neurological pathology, decreasing neurological dysfunction, and increasing lifespan.