A study for a rare disease was published in the New England Journal of Medicine yesterday, and may help to explain a cold sensitivity which a single gene mutation causes some immune system cells to shut down at body temperature and sends others into cold, resulting in a different mix of symptoms.
Patients have been presenting variable allergy symptoms. The Director of the National Institutes of Allergy and Infectious Diseases, Anthony Fauci, says "Investigating rare diseases gives researchers more clues about how the healthy immune system functions". Read the details here.
Also, some several experimental drugs to treat cancer may block the gene mutation. Studies are still being analyzed.
The global demand for orphan drugs for rare diseases treatments continues to multiply. Government legislation in the US and Europe is demanding better medicines from the international pharma and biotech sectors.
The World Orphan Drug Congress USA 2012 will bring together all stakeholders in the drug development chain to discuss strategic challenges, scientific advances and innovative solutions to create treatments for patients with rare diseases.
10-13 April – 2012
Gaylord National Hotel & Convention Center
National Harbor, MD