Sentences with phrase «rare gene responsible»

Not exact matches

«This is an exciting study of a very rare bone disorder that not only identified the responsible mutation in half of the patients, but uncovered fundamental information about the role of a cancer - related gene in the metabolic pathways of normal bone,» said study co-senior author Joan Marini, Ph.D., M.D., of NICHD.

Other medical sequencing projects will use DNA sequencing to: discover new genes that are involved in common diseases; identify the genes responsible for dozens of relatively rare, single - gene (autosomal Mendelian) diseases; sequence all of the genes on the X chromosome from affected individuals to identify those involved in sex - linked diseases; and survey the range of variants in genes known to contribute to certain common diseases.

Just because scientists know the gene responsible for a rare disease doesn't mean they know what's going on.

The first diseases which benefited from gene therapy were rare genetic diseases in which the gene responsible had been identified, in particular severe immune deficiencies

Research on many rare diseases has been severely hampered by the ability to find and study the genes responsible.

This same gene may be responsible for a similar rare, fatal disease in humans.

(All responsible breeders carefully place their dogs in new homes, but breeders of rare breeds are even more finicky about where their pups go because they are guardians of a small gene pool and need to make sure that all breedable dogs are kept intact and that buyers understand the consequences of owning a pet that is also the repository of genes from that limited pool.)