 |
|
||||||||
|
|
GENETIC RESEARCH DIVISION Deafness Hearing impairment is the most frequent sensory defect in humans and is an economically and socially important cause of morbidity. Dramatic progress has been made in our understanding of the biology of hearing and deafness through the mapping of more than 120 loci and the identification of more than 41 genes. CURRENT RESEARCH GJB2, GRXCR1 - Hela Azaiez Meniere's Syndrome - Colleen Campbell Otosclerosis - Megan Ealy Non-Syndromic Deafness - Eliot Shearer Non-Syndromic Deafness; Gene Therapy - Michael Hildebrand Non-Syndromic Deafness - Nicole Meyer DFNA3; Gene Therapy - Abraham Sheffield Pannexins/DFNA10 - Frederic Venail Pendred Syndrome; Non-Syndromic Hearing Loss - Tao Yang
Kidney Disease Atypical Hemolytic Uremic Syndrome (aHUS) and Dense Deposit Disease (DDD) are two rare renal diseases of significant morbidity and mortality that are caused by dysregulation of the alternative pathway of the complement cascade. aHUS is considered genetic when it is diagnosed in multiple family members or when disease-causing mutations are identified irrespective of family history. The six most frequently mutated genes in aHUS are: 1) CFH (encoding complement Factor H) which accounts for approximately 15-30% of cases (including the CFH-CFHR1 hybrid gene); 2) CD46 (also called MCP, encoding membrane cofactor protein) which accounts for 10-15% of cases; 3) CFI (encoding complement Factor I) which accounts for 5-10% cases; 4) C3 (encoding the third component of complement) which accounts for 2-10% of cases; 5) CFB (encoding complement Factor B) which accounts for 1-5% of cases; and 6) THBD (encoding Thrombomodulin) which also accounts for 1-5% of cases. Mutations in CFHR5 (encoding complement Factor H Related 5) also cause aHUS. DDD is genetically complex and only a few families with more than one affected person have been identified. These families have provided important insights into disease pathogenesis. In one such family, mutations in CFH have been identified. While most persons with DDD do not have disease-causing mutations in CFH, specific allele variants of CFH and other genes like CFHR5 and C3 are preferentially found in persons with DDD. Many persons with DDD also have a circulating autoantibody to C3bBb (the C3 convertase of the alternative pathway) called C3NeF. CURRENT RESEARCH DDD - Zen Abrera-Abeleda aHUS and DDD - Nicole Meyer aHUS - Tara Maga aHUS and DDD - Yuzhou Zhang
If you are interested in being a part of our hearing loss or kidney disease studies please contact Dr. Richard Smith, director of the MORL at:
RICHARD JH
SMITH-Director
|
