His lab is exploring base editing to fix blood disorders, neurological disorders, hereditary deafness
, and hereditary blindness.
GJB2 gene mutations causing familial hereditary deafness
Findings from a study appearing in Scientific Reports suggest a role for a combination of free radical scavengers in the prevention of a common form of hereditary deafness
caused by mutations in the connexin 26 gene.
Summary: New facility will help restore the hearing of babies born with hereditary deafness
or who have suffered damage to the inner ear
A study found that an antioxidant regimen of beta carotene (precursor to vitamin A), vitamins C and E and magnesium helped slow progression of hereditary deafness
in mice, with a deletion in Connexin 26 gene a protein found on the gene and the most common cause of innate hearing loss,Health News reported.
Inherited deafness is usually noted within a few weeks to a few months of age, but certain breeds, such as the Cavalier King Charles Spaniel, have a progressive hereditary deafness
that may not be noticed until 3 to 4 years of age," says Amanda Full, DVM, ACVIM, a former resident in neurology at the Cornell University Hospital for Animals now at Chicago Premier Veterinary Group.
London, Apr 27 ( ANI ): In a first of its kind operation, a piece of rib and a bone conduction implant have been used to treat an Edinburgh man's hereditary deafness
In developing countries such as India, there is an increasing awareness and interest in prenatal testing because genetic disorders of all types, including hereditary deafness
, which lead to significant social and economic burden on families due to poor support structure.
Pakistani population is one of the richest genetic resources to study hereditary deafness
Irene, from Portobello, Edinburgh, has hereditary deafness
which forced her to give up her job in an office for care work because she could no longer hear phone calls.
Knowledge about the gene could be incorporated into standard genetic testing, meaning experts will be able to tell families with hereditary deafness
their likelihood of having a child who is deaf.