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Intensive support programmes help children with rare diseases

Intensive support programmes can help parents of children with rare diseases reduce their stress levels and improve their quality of life, according to research published in the latest Journal of Advanced Nursing.

24 Feb 2006

Source of crucial immune cell in the skin discovered - may lead to tumor immunotherapy

Mount Sinai School of Medicine researchers have identified the precursors of cells in the skin that are part of the first line of defense against invading pathogens. The study appears on Nature Immunology's website.

7 Feb 2006

X-linked agammaglobulinemia

Individuals who have a rare genetic immune system disorder that prevents them from making antibodies nevertheless appear to be moderately healthy and lead productive lives, according to results of a study by investigators at St. Jude Children's Research Hospital.

18 Jan 2006

Extremely infectious pneumonia-like disease slips through body's immune system

A new study found that an extremely infectious pneumonia-like disease in humans slips through the immune system's usual defense mechanisms.

21 Dec 2005

Only 10 percent of doctors have ever heard of fibrodysplasia ossificans progressiva

A new research study shows how common a medical misdiagnosis can be and how severely it can exacerbate a disease.

7 Nov 2005

Should the NHS continue to pay for drugs for rare diseases?

The growing number and costs of drugs for rare diseases (orphan drugs) are straining healthcare budgets. Should the NHS continue to pay for them and how will this affect other health services, ask two articles in this week's British Medical Journal (BMJ)?

30 Oct 2005

Researchers reveal basis for hereditary coproporphyria

A research team led by scientists at The University of Texas Medical School at Houston has determined the structure of an enzyme that when defective causes an inherited disease that afflicts sufferers with severe abdominal pain, psychiatric symptoms, skin fragility, and light sensitivity.

9 Oct 2005

Hutchinson-Gilford progeria syndrome in children may be helped by cancer drugs

Children who suffer from a rare disease called progeria, which accelerates aging and often kills patients when they are in their teens, may possibly be helped by drugs being developed to treat cancer.

31 Aug 2005

Blocking Hutchinson-Gilford progeria syndrome (HGPS) with anticancer drugs

A class of anticancer drugs currently being evaluated in phase 3 clinical trials may also be an effective treatment for Hutchinson-Gilford progeria syndrome (HGPS), a fatal genetic disorder that causes premature aging.

29 Aug 2005

Ataxin-1 affects the development of the nervous system

In some neurological diseases, too much of what is usually a good thing can be bad, said researchers at Baylor College of Medicine in a report in this week's issue of the journal Cell.

28 Aug 2005

European Rare Diseases Therapeutic Initiative could provide an important new mechanism for developing new drugs

Because of the very high costs in developing drugs for rare genetic diseases, and the low return on investment, the pharmaceutical industry has rarely developed specific treatments for many of these diseases.

23 Aug 2005

Six possible cases of Creutzfeldt-Jakob disease in Idaho sets alarm bells ringing

According to Idaho officials one case of Creutzfeldt-Jakob disease has been confirmed, and they are investigating five other suspected cases in the state.

14 Aug 2005

Unexpected baby joy for transplant patient

Twenty six year old Tracy Paterson, from Carlisle, was given a liver transplant as a teenager after being diagnosed with a rare auto-immune disease.

7 Aug 2005

Study proves Lorenzo's Oil prevents rare disease in boys

U.S. researchers have confirmed that a treatment called Lorenzo's Oil can prevent the onset of a rare but devastating neurological disease in young boys, X-linked adrenoleukodystrophy or X-ALD.

12 Jul 2005

Promising new tuberculosis drug enters clinical trial

A promising new drug candidate that may be effective against both actively dividing and slow-growing Mycobacterium tuberculosis (M. tb) has begun testing in humans, the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, announced this week.

15 Jun 2005

FDA grants Vical orphan-drug designation

Vical Incorporated today announced that the Office of Orphan Products Development of the U.S. Food and Drug Administration (FDA) has designated the company's bivalent (two-plasmid) formulation of the company's vaccine against cytomegalovirus (CMV) as an orphan drug for the prevention of clinically significant CMV viremia, CMV disease and associated complications in at-risk hematopoietic cell transplant (HCT) and solid organ transplant (SOT) populations.

14 Jun 2005

Infants with Krabbe disease saved by cord blood stem cells

Children with a fatal genetic disorder called Krabbe Disease can be saved and their brain development preserved if they receive stem cells from umbilical cord blood before symptoms of the disease develop, according to a study published in the current issue of the New England Journal of Medicine.

20 May 2005

Zevalin safe and effective for non-Hogdkin's lymphoma patients

According to a University of Pittsburgh Medical Center (UPMC) study, patients with advanced non-Hodgkin's lymphoma (NHL) previously treated with chemotherapy and adult stem cell transplantation can safely tolerate Zevalin (ibritumomab tiuxetan), a radiolabeled monoclonal antibody that targets radiation directly to a tumor.

17 May 2005

Myogen's Ambrisentan granted orphan drug designation by Europeans

Myogen today announced that the Commission of the European Communities, with a favorable opinion of the Committee for Orphan Medicinal Products of the European Medicines Agency (EMEA), has granted orphan drug designation to ambrisentan for the treatment of pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension.

2 May 2005

9/11 rescue workers screening program to continue

A program to screen the health of rescue workers who were involved in the wreckage of the World Trade Center, will soon start accepting new patients again, in the hopes of reaching thousands of people who could not be accommodated previously.

1 May 2005