Rare diseases are likely to get more attention currently that an international consortium of patient advocacy groups and research funders has vowed to deliver 200 fresh therapies by 2020. For people with these diseases, such notice must seem long overdue. Drug companies now don’t have much incentive to expand drugs for diseases that affect fewer than 200,000 people, but almost 7,000 rare diseases exist disturbing a total of about 25 million Americans. Many are caused by mutations in a gene. The National Institutes of Health is opening a center in the fall to interpret research findings in genetics to usable therapies, the Associated Press reports.
The NIH previously has grant programs to spur research in rare diseases. The NIH's Therapeutics for Rare and Neglected Diseases plan has a pipeline of projects. Its pilot projects offer a glimpse into several of the diseases that, though rare, can nonetheless have incapacitating consequences. Schistosomiasis: Infection begins when a parasitic worm approved by freshwater snails penetrate the skin and lays eggs in blood vessels. First come rashes, then fever and chills, followed by liver and other organ injure over time. Researchers just decoded the genomes of two schistosomiasis-causing parasites, which may allow researchers to get ways to inhibit the parasites’ growth. About 200 million people worldwide have the disease, and 280,000 die from it every year.
Niemann-Pick Type C: In this condition, fatty deposits collect in the spleen, liver, lungs, bone marrow and brain. Type A, the most common, is fatal in infants. Type C can show early in life or in young adulthood; it causes brain damage and ultimately can change walking, swallowing, seeing and hearing. Only about 500 children in the world are recognized to have Type C. Researchers have found two genes that can give to Type C and Type D, but progress is slow. Hereditary inclusion body myopathy: Usually starting in young adulthood, the disease causes muscle wasting, foremost to severe disability in 10-20 years. A clinical trial in 2006 found mild benefits from intravenous immune globulin, fundamentally antibodies from blood plasma. A small gene therapy trial is happening, and stem cell therapy are being considered.
The NIH previously has grant programs to spur research in rare diseases. The NIH's Therapeutics for Rare and Neglected Diseases plan has a pipeline of projects. Its pilot projects offer a glimpse into several of the diseases that, though rare, can nonetheless have incapacitating consequences. Schistosomiasis: Infection begins when a parasitic worm approved by freshwater snails penetrate the skin and lays eggs in blood vessels. First come rashes, then fever and chills, followed by liver and other organ injure over time. Researchers just decoded the genomes of two schistosomiasis-causing parasites, which may allow researchers to get ways to inhibit the parasites’ growth. About 200 million people worldwide have the disease, and 280,000 die from it every year.
Niemann-Pick Type C: In this condition, fatty deposits collect in the spleen, liver, lungs, bone marrow and brain. Type A, the most common, is fatal in infants. Type C can show early in life or in young adulthood; it causes brain damage and ultimately can change walking, swallowing, seeing and hearing. Only about 500 children in the world are recognized to have Type C. Researchers have found two genes that can give to Type C and Type D, but progress is slow. Hereditary inclusion body myopathy: Usually starting in young adulthood, the disease causes muscle wasting, foremost to severe disability in 10-20 years. A clinical trial in 2006 found mild benefits from intravenous immune globulin, fundamentally antibodies from blood plasma. A small gene therapy trial is happening, and stem cell therapy are being considered.
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