SBIR/STTR Research Award
CYSTIC FIBROSIS (CF) IS A LETHAL AUTOSOMAL RECESSIVE DISEASEAFFECTING MAINLY WHITE CHILDREN.
Award amount
$50,000Program and phase
SBIR · Phase IAward year
1986Award details
- Awarding agency
- Department of Health and Human Services
- Branch
- Not reported
- Recipient company
- Healthgenics Inc
- Proposal award date
- Not reported
- Contract end date
- Not reported
- UEI
- Not reported
- Solicitation number
- Not reported
- Topic code
- Not reported
Research abstract
CYSTIC FIBROSIS (CF) IS A LETHAL AUTOSOMAL RECESSIVE DISEASEAFFECTING MAINLY WHITE CHILDREN. THE RISK OF BEING A CARRIER OF THE CYSTIC FIBROSIS GENE IN THE WHITE POPULATION IS HIGH-APPROXIMATELY 5%. AFFECTED INDIVIDUALS WITH CYSTIC FIBROSIS CAN BE DIAGNOSED BY HIGH SWEAT CHLORIDE LEVELS WITHAPPROXIMATELY 98% RELIABILITY. HOWEVER, THOSE INDIVIDUALS WHO CARRY A SINGLE CYSTIC FIBROSIS GENE AND ARE POTENTIAL PARENTS OF CYSTIC FIBROSIS CHILDREN CANNOT BE DIAGNOSED. FOR EXAMPLE, NORMAL SIBLINGS OF CYSTIC FIBROSIS PATIENTS HAVE A 66.6% CHANCE OF CARRYING ONE OF THE DEFECTIVE GENES LEADING TO CYSTIC FIBROSIS. SUCH INDIVIDUALS AND OTHERS AREINTERESTED IN A DIAGNOSTIC TEST FOR DETECTING THE CYSTIC FIBROSIS GENE. THE COMMERCIAL APPLICATION OF DNA TECHNOLOGYTOWARD DEVELOPING A COMMERCIAL TEST FOR THE CYSTIC FIBROSIS GENE WILL BE THE LONG-TERM OBJECTIVE OF THIS PROJECT. PHASEI OF THIS PROJECT WILL IDENTIFY ONE OR MORE DNA POLYMORPH- ISMS THAT COSEGREGATE WITH THE CYSTIC FIBROSIS GENE BACAUSE OF THEIR PROXIMITY TO THE GENE ON A HUMAN CHROMOSOME. IDENTIFICATION OF SUITABLE DMA POLYMORPHISMS WILL BE USED TOSTUDY THE FEASIBILITY OF DETECTING THE SEGREGATION OF THE CFGENE IN FAMILIES FROM TEXAS, NEW YORK, AND MEXICO.
Technology keywords
Not reported