In a test on ten patients with retinitis pigmentosa, an inherited disease involving retinal degeneration, vision improved significantly.
Noah turned out to be fine, but Rothberg was frustrated that doctors didn't have a rapid test to ensure his son didn't have an inherited disease.
Bear's work suggests that a specific class of drug already sitting on drug company shelves may help patients with an inherited disease called fragile X syndrome, a common cause of autism.
The re-arrangement or sequence of the nucleotides on the DNA ladder may result in a mutation that leads to an inherited disease, which only affects maybe 2% of the human population.
Rothberg's 14-year-old daughter, the oldest of his five kids, has a mild form of an inherited disease called tuberous sclerosis complex, a relatively rare disorder (50, 000 or so Americans have it) that can cause benign tumors in the heart, kidney, skin, lungs, eyes and brain, where seizures can occur.
Souther inherited her disease--familial cold autoinflammatory syndrome--from her father and figured there never would be a cure.
For one thing, mipomersen will at first be aimed squarely at the kind of market Genzyme understands best: an inherited genetic disease.
In Type 1 diabetes, an inherited form of the disease, the immune system destroys insulin-producing cells.
Polymeropoulos, when he was at the U.S. National Institutes of Health, pinpointed a gene that causes a rare inherited form of the disease by spawning mutations in a protein called alpha-synuclein.
Late last year, Jack and Lisa Nash, a Colorado couple, opted for the high-tech approach to avoid their new baby suffering from Fanconi anaemia, a rare inherited bone-marrow disease, which plagues their daughter.
The drug is also being tested against Huntington's disease, an inherited condition in which the brain slowly degenerates.
About 5% of cases of Alzheimer's disease are known to be inherited in the old-fashioned way via a faulty gene in the nucleus.
For some inherited disorders such as Huntington's disease and cystic fibrosis, where a change in just a single gene causes a potentially devastating condition, highly predictive genetic tests already available.
An illustration earlier this year was the delay in FDA approval of a biological used to treat Pompe disease--a debilitating inherited disorder--that was to be manufactured in a new, larger-scale manufacturing facility.
Genes for rare inherited ills such as Huntington's disease guarantee you will get sick, but many of the new genes being discovered for diabetes and other common diseases tweak your risk by only so much, such as 30%--not enough to make you change your life.
By 2000 scientists had discovered more than 4, 000 disease-causing genes, mostly for rare inherited diseases.
They note that rare inherited gene mutations that seem to cause Alzheimer's disease by raising amyloid levels.
However, if the mutations are inherited, then the children of women with Alzheimer's disease should be more likely to carry the mutation than the children of afflicted men.
He has been losing sight since he was 9 because of Stargardt's disease, which his website calls the most common form of inherited juvenile macular degeneration.
Compounds in preclinical tests target cystic fibrosis (30, 000 people plus a thousand new cases per year), Huntington's disease (30, 000 cases) and Rett syndrome, a rare inherited brain disorder.
Dr Whitelaw's work is one part of a growing body of evidence suggesting that understanding inherited epigenetic features may be necessary to work out how animals pass on physical characteristics or susceptibility to disease.
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