Rare Disease News and Research

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Combination of anastrozole and a synthetic hormone called goserelin may slow male breast cancer growth

Medical oncologists across the nation want to know whether a certain drug combination can slow the progression of male breast cancer, a rare disease that often goes undiagnosed until it's in an advanced stage.

10 Jul 2006

Researchers discover new cell structures

New breakthrough for children suffering from an extremely rare disease that accelerates the aging process by about seven times the normal rate.

28 Jun 2006

Unbelievable - three die from tuberculosis in the UK

Unbelievable though it may seem in this day and age, three elderly people living in a home for the aged have apparently died of tuberculosis (TB).

8 Jun 2006

Sperm donor passes rare dangerous disease on to four children

According to a new report in the U.S., a sperm donor may have unwittingly passed an extremely rare and dangerous genetic ailment to five children born to four couples.

22 May 2006

Gene "CGI-58" linked to rare disease activates fat breakdown

A gene earlier linked to a rare disease plays a critical role in the body's "finely tuned balance" of fat storage and break down, new evidence reported in the May Cell Metabolism reveals.

10 May 2006

New orthostatic hypotension treatment reduces symptoms without causing high blood pressure

A drug traditionally used to treat myasthenia gravis shows potential benefit for reducing symptoms of orthostatic hypotension without raising blood pressure when people lie down, according to results of a double-blind, controlled clinical trial.

19 Apr 2006

Promising treatment for Huntington's disease soon to be tested clinically

At the Institut Curie, CNRS and Inserm researchers have shown that cysteamine, which is already used to treat a rare disease called cystinosis, prevents the death of neurons in Huntington's disease. Like Alzheimer's and Parkinson's, Huntington's disease, is characterized by the abnormal death of neurons.

19 Apr 2006

New test for detecting small amounts of proteins in the blood

Researchers at the University of Pennsylvania School of Medicine have developed a paradigm-shifting method for detecting small amounts of proteins in the blood.

13 Mar 2006

Drug shortfall as more than 5,000 conditions need medication

Only seven per cent of drug applications for treating people with rare diseases were approved in Europe between 2000 and 2004, despite the fact that there are currently more than 5,000 conditions needing medication.

9 Mar 2006

5,000 rare diseases need drugs, but Europe only approves a handful each year

6 Mar 2006

PET and MR imaging reveals white matter degeneration in Huntington's

Using both brain function (PET) and anatomical structure (MR) imaging studies, Italian researchers - within the context of an Italian-British collaboration - discovered that degenerative and dysfunctional events occur in individuals many years before the onset of Huntington's disease - particularly in the brain's white matter - an area not previously considered primarily involved with the disease.

24 Feb 2006

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