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The First National Conference on Rare Diseases and Orphan Drugs will be held on 28-30 May 2010 in Plovdiv, Bulgaria. An EUROPLAN Project workshop will be organized during the event too. It will take place at the Congress centre of NOVOTEL – Plovdiv. More detailed information will be given soon.

The official website of the First National Conference for Rare Diseases and Orphan Drugs is now available. Visit www.conf2010.raredis.org regularly and stay tuned to all news and updates concerning this important scientific event.

On February 28 a prayer service will be held at St. Marina Orthodox Church in Plovdiv as part of the events for Rare Diseases Day 2010. Organiser is the National Alliance of People with Rare Diseases with the support of the Information Centre for Rare Diseases and Orphan Drugs.

The National Alliance of People with Rare Diseases and patient associations in Bulgaria will be once more actively involved in this year's events on the occasion of the Rare Disease Day. On 25 February, a press conference will take place at the BTA with the participation of patient representatives. On 28 February, a charity concert will be held in Plovdiv under the patronage of Bulgaria's First Lady - Mrs. Zorka Parvanova. The event will start from 16 o'clock at the National Army Hall. Special guests include Nikolina Chakardakova and the Nevrokop Dance Ensemble, Orhan Murad, "Detska Kitka” Children Choir, "Era" Ballet. On 28 February, stands in major cities (Sofia, Plovdiv, Varna, Pleven) will be organized, where patients and volunteers will distribute rare diseases information leaflets.

In a push to find cures or at least better treatment for rare diseases, the Food and Drug Administration is giving pharmaceutical companies an incentive to create therapies for so-called orphan diseases - those that affect fewer than 200,000 Americans.

Incentives for orphan-drug designation include seven years' marketing exclusivity and tax breaks. Last year, just 250 requests for orphan-drug designation were filed, and 160 received it.

"We're barely scratching the surface," Dr. Timothy Coté, director of the FDA's Office of Orphan Products Development, the workshop's sponsor told the Wall Street Journal. He says there are roughly 350 orphan drugs approved, covering about 150 rare diseases.

Big companies are starting to get more interested in rare diseases, but the key issue is the high cost of developing a drug and the typically long time it takes to move it from a lab into a clinic as a treatment that gets prescribed. Before starting down this arduous path, a company needs to feel there is a reasonable chance of making a profit.

To get more applications, Coté's office made help is available, in two workshops with on-the-spot regulatory advice. The first workshop, held last month at the Keck Graduate Institute here, drew 29 potential sponsors, from major drug companies to academic centers, small biotechs and even some patient advocates. In a follow-up survey, 74% said they had never before filed an application for orphan drug designation.

Coté considered the workshop a success but was disappointed that not every group submitted.

Up to 50 organizations can attend the second workshop that will be held at the University of Minnesota in August. Coté said he was considering workshop in Europe.

The FDA continues to aggressively recruit companies, but resources are still limited and he warns don't attend unless you plan to submit.

FDA pushes for cures for orphan diseases originally appeared on About.com Rare Diseases on Wednesday, March 10th, 2010 at 13:01:53.

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Shiloh Pepin, who was born with sirenomelia, or "mermaid syndrome," has died at the age of 10. She passed away last Friday in Maine.

Sirenomelia is a condition in which one's legs are fused together from the waist down. Pepin did not have any genital organs or a large intestine. Most children born with sirenomelia die soon after birth.

You can read more about Shiloh at ABCNews.com.

Girl with "mermaid syndrome" dies at age 10 originally appeared on About.com Rare Diseases on Wednesday, October 28th, 2009 at 12:37:57.

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Though the news might not make a splash for most, those with relapsed and refractory peripheral T-cell lymphoma are rejoicing.The FDA has approved Folotyn (pralatrexate) for for treatment of this rare cancer -- the first treatment ever available.  Toxicity is a concern, and so those being treated with Folotyn are recommended to take folic acid and vitamin B12 supplements.

FDA News Release

Folotyn Gets OK for Rare Lymphoma Treatment originally appeared on About.com Rare Diseases on Monday, September 28th, 2009 at 10:36:44.

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On August 21, 2009, the U.S. Food and Drug Administration (FDA) approved Sabril (vigabatrin) to treat infantile spasms in children ages 1 month to 2 years. Infantile spasms are a type of seizure disorder, often part of West syndrome, in which the infant suddenly bends forward at the waist and the body, arms, and legs stiffen. These spasms last a few seconds and occur in clusters of anywhere from 2 to 100 spasms at a time. Some infants have dozens of these clusters of spasms in a day.

Sabril is the first drug in the United States approved to treat infantile spasms. Damage to vision is an important safety concern with the use of Sabril. The drug will have a boxed warning to alert health care professionals to this risk of a progressive loss of peripheral vision with potential decrease in visual acuity. The risk of vision damage may increase based on the dosage and duration of use, but even the lowest doses of Sabril can cause vision damage. Periodic vision testing is required for those taking Sabril. Because of the risk of permanent vision damage, the drug will be available only through a restricted distribution program.

Sabril approved by FDA to treat infantile spasms originally appeared on About.com Rare Diseases on Tuesday, September 1st, 2009 at 08:13:11.

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A bone marrow transplant is when special cells (called stem cells) that are normally found in the bone marrow are taken out, filtered, and given back either to the same person or to another person.

Foot gangrene caused by bubonic plague

Information about myasthenia gravis (MG), an autoimmune disorder, including symptoms, diagnosis and treatment.

Information about adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.

So imagine my horror when I heard that New York Assemblyman Felix Ortiz has introduced a bill that would ban the use of salt in the preparation of restaurant food.

It's important to note here that no one is threatening to take away my salt shaker. I can still commit suicide by sodium if I choose. Or I suppose I could (sigh) use this as an excuse to become a healthier eater and blah, blah, blah.

In all seriousness, eating out is where any healthy eating attempt of mine totally collapses. This is partly because I don't consider a whole box of pasta a single serving when I'm eating at home, but I'm pretty sure that's what they use when I'm eating out.

For example, these three deductions, any of which could wind up saving you a ton of money.

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NIH Director Francis S. Collins, M.D., Ph.D. has been named a recipient of the Albany Medical Center Prize in Medicine and Biomedical Research for his leading role in mapping the human genome. While accepting the honor, Dr. Collins declined his portion of the $500,000 prize in order to comply with government ethics rules.

An independent panel convened this week by the National Institutes of Health confronted a troubling fact that pregnant women currently have limited access to clinicians and facilities able and willing to offer a trial of labor after previous cesarean delivery because of so-called VBAC bans. Many, even those at low risk for complications in a trial of labor, are not offered this option. The panel affirmed that a trial of labor is a reasonable option for many women with a prior cesarean delivery. They also urged that current VBAC guidelines be revisited, malpractice concerns be addressed, and additional research undertaken to better understand the medical and non-medical factors that influence decision making for women with previous cesarean deliveries.

Results of a clinical trial conducted in a largely self-contained religious community during the 2008-09 influenza season show that immunizing children against seasonal influenza can significantly protect unvaccinated community members against influenza as well. The study was conducted to determine if immunized children could act as a barrier to limit the spread of influenza to the wider, unvaccinated community, a concept known as herd immunity.

Investigators have developed a new mathematical approach to analyze molecular data derived from complex mixtures of immune cells. This approach, when combined with well-established techniques, readily identifies changes in small samples of human whole blood, and has the potential to distinguish between health and disease states.