A gene therapy for an inherited disease
could be approved in the U.S.
For each participant, the WGS identified between 90 and 127 novel or rare genetic variations, and between 12 and 20 commonly reported variations, all candidates for curation with respect to personal risk and carrier status for inherited disease
. The geneticists' review of the evidence for pathogenicity for each variant required a median time of 54 minutes (range, 5-223 minutes).
The inherited disease
often results in death from respiratory failure, particularly in newborns.
Pompe disease is an inherited disease
caused by the deficiency or lack of the enzyme acid alpha-glucosidase, which is essential for normal muscle development and function.
Friedreich's Ataxia, a spinocerebellar degeneration, is an inherited disease
that causes progressive damage to the nervous system, resulting in muscle weakness, speech problems and heart disease.
Several years ago, I was diagnosed with polycystic kidney disease (an inherited disease
that eventually causes kidney failure).
The genetic mutation disease Tay-Sachs, a fatal inherited disease
of the central nervous system that mostly affects Ashkenazi Jews, has been almost completely eradicated, experts say, who claim that a genetic illness has become extinct for the first time.
In humans, prion diseases can occur as a sporadic or inherited disease
, or as a result of iatrogenic transmission.
Spinal muscular atrophy (SMA) is an inherited disease
that causes progressive muscle deterioration and weakness.
(1.) An inherited disease
, usually beginning in childhood before puberty, with sclerosis of the dorsal and lateral columns of the spinal cord.
The Metabolic and Molecular Bases of Inherited Disease
. 7th ed.
The Great Ormand Street Hospital for Children in London said that 18-month-old Rhys Evans had been "cured" of x-linked severe combined immunodeficiency disease (X-SCID), a fatal inherited disease
commonly known as "bubble baby" syndrome.
In this way a person might be given a set of appropriately differentiating cells that were otherwise genetically his or her own, only freed from the mutation and therefore able to reconstitute the normal function that the inherited disease
I know it is an inherited disease
(her mother died of it, as have others in the family).
If MS isn't an inherited disease
, why are medical scientists looking for MS genes?