Rare diseases in the attention

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.

Moderate kidney disease associated to hearing loss

In the study, of adults aged 50 years and older, 54 percent of people with sensible kidney disease had some extent of hearing loss, while 30 percent of those with the disease suffered harsh hearing loss. That's higher than in the common population: According to the National Institute on Deafness and Other Communication Disorders, investigation loss affects 18 percent of U.S. adults aged 45 to 64. Earlier studies had shown a link between kidney disease and hearing loss in sure rare syndromes. However, the new study, published today in the American Journal of Kidney Diseases, expand on that by presentation that the link can exist for any older adult with kidney disease.

In the U.S., there are 31 million adults in the living with kidney disease, 7.5 million of whom have restrained forms. Given the new findings, researchers think that it is important for these patients to be aware of the link between their condition and hearing loss. "If you have kidney disease, you should discuss with your doctor about testing for hearing," said Dr. David Harris, a co-author of the study at Sydney Medical School in Australia. "It's a simple test, but will help you to take individual care if you do have a hearing impairment."

For most patients who lost hearing in the study, the loss was less than severe, only affecting decibel levels around that of a whisper or low discussion. Still, having a doctor help choose the suitable hearing aid can preserve hearing, say the authors. Because of the nature of the study, the results do not propose that kidney disease actually causes hearing loss, just that there is a link between the two. Dr. Robert Hopkin, who studies genetic disorders at Cincinnati Children's Hospital Medical Center, also pointed out that although this study shows effects in a huge population, for individuals there is still large variability. In other words, just because you have kidney disease, doesn't mean you're necessarily going to suffer hearing loss.

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Patient afflicted with rare disease

Patients afflicted with rare diseases are single-handedly waging a two-pronged attack - against the disease and against the authorities that sometimes stand in the way of effective action and care.

Approximately 50,000 people in Israel are afflicted with rare diseases, the nearly all well known among them being Sturge Weber syndrome, Williams syndrome, Kindler syndrome and Huntington's diseases. Researchers and doctors are aware of around 5,000 kinds of rare diseases. According to Ministry of Health data, approximately 4,500 babies are born each year in Israel with genetic defects.

According to Prof. Gideon Bach, the director of the genetics department at Hadassah Hospital, Ein Kerem, the incidence of rare diseases in Israel is slightly higher than the frequency in Western countries because of the high incidence here of marriages between cousins. Most of the rare diseases are genetic and affect many body systems. Some of the diseases are discovered at birth and some come out at an older age. In many cases, the diseases are never correctly diagnosed. 

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