Rare Disease News and Research

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New understanding of Sly Syndrome

The scientist who discovered “Sly Syndrome” nearly four decades ago and a team of colleagues at Saint Louis University are a step closer to finding an approach to treat the rare genetic disease.

26 Jul 2007

Higher child leukaemia rates near nuclear facilities

Leukaemia rates in children and young people are elevated near nuclear facilities, but no clear explanation exists to explain the rise, according to a research review published in the July issue of European Journal of Cancer Care.

20 Jul 2007

Higher leukaemia rates in children living near nuclear facilities

19 Jul 2007

Discovery of enzyme critical in DNA replication

In this week's issue of Science, researchers from the National Institute of Environmental Health Sciences (NIEHS) and Umea University in Sweden report an important discovery about a critical new role that an enzyme called DNA polymerase epsilon plays in replicating DNA in higher organisms such as yeast and perhaps even humans.

9 Jul 2007

Goltz syndrome gene found

Researchers funded in part by the National Institutes of Health have identified the gene that accounts for most cases of Goltz syndrome, a rare skin disorder that can also affect bone and eye development.

23 Jun 2007

breakthrough in the treatment of idiopathic pulmonary haemosiderosis

Researchers at Queen Mary University London and the University of Leicester and have announced a potential breakthrough in the treatment of a rare but devastating medical condition that can affect children and young people.

5 Jun 2007

Breakthrough in idiopathic pulmonary haemosiderosis

3 Jun 2007

New discoveries on genes implicated in Fanconi anaemia

An international research consortium, which included the participation of the Mutagnesi Group from the UAB, has made outstanding progress in the study of Fanconi anaemia.

3 Jun 2007

New biotech company develops UD-patented technologies for repairing genes

OrphageniX Inc., a new biotechnology company founded by University of Delaware researchers, has been established in Wilmington to develop and commercialize UD-patented technologies for repairing genes that cause rare, hereditary diseases such as sickle cell anemia and spinal muscular atrophy.

25 Apr 2007

Johns Hopkins develops pancreas cancer risk software tool

People with a family history of pancreas cancer now have a way to accurately predict their chance of carrying a gene for hereditary pancreas cancer and their lifetime risk of developing the disease.

17 Apr 2007

FDA approves Ceprotin to treat severe congenital protein C deficiency

The U.S. Food and Drug Administration (FDA) today licensed Ceprotin, the first biologic treatment for patients with a rare genetic defect that can cause a potentially life-threatening clotting disorder.

30 Mar 2007

FDA approves Soliris (eculizumab), first treatment for paroxysmal nocturnal hemoglobinuria

The U.S. Food and Drug Administration (FDA) has approved Soliris (eculizumab), the first product for the treatment of paroxysmal nocturnal hemoglobinuria (PNH), a rare type of blood disorder that can lead to disability and premature death.

19 Mar 2007

Lack of preventive care, not HPV vaccine, 'real' reason 'too many women still die of cervical cancer'

The "real" reason that "[t]oo many women still die of cervical cancer" is the "lack of access to preventive medical care for low-income women and not the lack of a vaccine," Wall Street Journal columnist and Illinois-based physician Benjamin Brewer writes in an opinion piece.

11 Mar 2007

Cancer Research UK secures fenretinide orphan drug licence

A previously shelved drug could prove effective for treating a group of rare childhood cancers, and Cancer Research UK today announced it has been granted exclusive marketing rights for the drug in these indications by the European Commission and the Food and Drug Administration (FDA).

27 Feb 2007

Newborns with respiratory distress should be evaluated for primary ciliary dyskinesia

Reviewing published reports, Ferkol and Margaret Leigh, M.D., professor of pediatrics at the University of North Carolina at Chapel Hill (UNC), found that neonatal respiratory distress was a common clinical symptom of PCD, a chronic airway disease that affects about 1 in 15,000 children.

20 Feb 2007

Link between MRI contrast agent and nephrogenic systemic fibrosis

New research has shown a possible association between a popular magnetic resonance imaging (MRI) contrast agent and the incidence of a rare disease called nephrogenic systemic fibrosis (NSF) in patients with kidney disease, according to an editorial appearing in the March issue of Radiology.

28 Jan 2007

European network launched to aid muscle disease patients

Some of the world's leading doctors and scientists will join together in a multi-million pound international network aimed at improving treatment and finding cures for thousands of patients with debilitating neuromuscular diseases.

2 Dec 2006

Further European investment in genomics

The Economic and Social Research Council (ESRC) has announced continued funding, from 2007 to 2012, for its three research centres, CESAGen, EGENIS and INNOGEN, that, along with the ESRC Genomics Policy and Research Forum, make up the ESRC Genomics Network.

23 Oct 2006

Updates on pandemic flu vaccine trials to be presented at 44th Annual IDSA meeting

Preliminary results from clinical trials testing two different pandemic flu vaccine approaches - one a prime-boost strategy using different subtypes of H5N1 vaccines, the other an H5N1 vaccine delivered into the skin (intradermal) rather than the muscle - will be presented at the 44th Annual Meeting of the Infectious Diseases Society of America.

16 Oct 2006

NHGRI funds assessment of public attitudes about population-based studies on genes and environment

The National Human Genome Research Institute (NHGRI) has announced it has awarded $2 million to the Genetics and Public Policy Center of the Berman Bioethics Institute at Johns Hopkins University to conduct a public discussion about future potential large U.S. population-based studies examining the roles of genes and environment in human health.

28 Sep 2006