Rare Disease News and Research

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Scientists develop simple, reliable test to identify biomarkers for MPS

A team of scientists, led by researchers at the University of California, San Diego School of Medicine and Zacharon Pharmaceuticals, have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders that are currently diagnosed in patients only after symptoms have become serious and the damage possibly irreversible.

8 Jan 2012

OCF to offer free oral cancer screenings in April 2012

Did you know that the fastest growing segment of the oral cancer community is young, healthy non-smokers? It's shocking but true. Exposure to the HPV-16 virus, the most common sexually transmitted infection, is now the leading cause of oral cancers in the U.S. There is little that can be done to stop this virus from spreading. Our only hope to save lives is through increased professional involvement and public awareness to generate early discovery of the disease process.

7 Jan 2012

IQWiG examines added benefit of pirfenidone for idiopathic pulmonary fibrosis

Pirfenidone inhibits the development of inflammation and scarring (fibrosis) in pulmonary tissue and has been approved for the treatment of mild to moderate idiopathic pulmonary fibrosis (IPF) since the beginning of 2011.

4 Jan 2012

Researchers successfully treat severe congenital disorder in mouse model

Using a mouse model, Heidelberg University Hospital researchers have for the first time successfully treated a severe congenital disorder in which sugar metabolism is disturbed.

23 Dec 2011

State roundup: Ariz. high court to hear Medicaid funding challenge

The Arizona Supreme Court on Monday agreed to consider a challenge to state Medicaid cuts. The court put the matter on its Feb. 15 agenda and will decide then whether to take the case and hear oral arguments. Three public-interest law groups challenged an enrollment freeze for childless adults in the state's Medicaid program, the Arizona Health Care Cost Containment System. A lower-court judge and an Arizona appeals-court panel upheld the cuts.

21 Dec 2011

Phase I clinical study of Selexys SelG1 for sickle cell disease completed

Selexys Pharmaceuticals announced today that it has completed a Phase I clinical study of its lead compound SelG1, an antibody specific for the pro-inflammatory cell adhesion molecule P-selectin.

19 Dec 2011

Researchers identify second oldest human disease mutation

A new study has identified a gene mutation that researchers estimate dates back to 11,600 B.C., making it the second oldest human disease mutation yet discovered.

16 Dec 2011

Scientists discover gene that causes Weaver syndrome

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability.

16 Dec 2011

Researchers discover potential target for cherubism

Cancer researchers studying genetic mutations that cause leukemia have discovered a connection to the rare disease cherubism, an inherited facial bone disorder in children.

9 Dec 2011

New NHGRI funding plan sharpens focus of Genome Sequencing Program on medical apps

A new funding plan by the National Human Genome Research Institute (NHGRI) sharpens the focus of its flagship Genome Sequencing Program on medical applications. In addition to continuing on-going studies, the four-year, $416 million plan launches new efforts to find causes of rare inherited diseases and accelerate the use of genome sequence information in the medical care of patients.

7 Dec 2011

Advancing the development of a malaria transmission-blocking vaccine

Three leaders in malaria vaccine development announced today a collaboration to evaluate a potential vaccine candidate designed to prevent transmission of malaria from mosquitoes to humans—a type of vaccine that researchers think could contribute to the eventual eradication of malaria.

6 Dec 2011

Towards a national plan of action for rare diseases

"Rare diseases", by their very definition, occur in no more than 5 people out of every 10,000 inhabitants. Barely noticed by the general public, only around 1,000 of the currently 6,000 or so different rare diseases currently listed on the Internet platform Orphanet are treatable nowadays.

5 Dec 2011

Einstein, Montefiore receive NINDS grant to establish clinical site for NeuroNEXT

In a development that could pave the way for treatment for rare neurological diseases and clues to more common ones, physician-scientists at Albert Einstein College of Medicine of Yeshiva University and Montefiore Medical Center, the University Hospital for Einstein, have secured a grant to establish a clinical site for the Network for Excellence in Neuroscience Clinical Trials.

2 Dec 2011

IRCI to design and fund clinical trials for rare cancers

Cancer Research UK will join forces with international research groups from the UK, Europe and the US to launch an initiative to boost the development of new treatments for patients with rare cancers. The announcement will be made by Dr Harpal Kumar, chief executive of Cancer Research UK, at the 2011 World Cancer Leaders' Summit taking place today in Dublin.

18 Nov 2011

EC approves Pfizer's Vyndaqel to treat Transthyretin Familial Amyloid Polyneuropathy

Pfizer announced today that the European Commission has approved Vyndaqel (tafamidis) for the treatment of Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) in adult patients with stage 1 symptomatic polyneuropathy.

17 Nov 2011

Male breast cancer patients report tamoxifen side effects

About half of male breast cancer patients who take the drug tamoxifen to prevent their disease from returning report side effects such as weight gain and sexual dysfunction, which prompts more than 20 percent of them to discontinue treatment, according to researchers at The University of Texas MD Anderson Cancer Center.

17 Nov 2011

CF Foundation, Genzyme announce new drug research agreement

Genzyme, a Sanofi company, and Cystic Fibrosis Foundation Therapeutics Inc., the nonprofit affiliate of the Cystic Fibrosis Foundation, today announced a research agreement to support the discovery of new drugs to treat people with the most common mutation found in patients with CF, Delta F508.

17 Nov 2011

First-ever Mantle Cell Lymphoma Symposium to be held on Nov. 12

The Lymphoma Division of the John Theurer Cancer Center at Hackensack University Medical Center with the participation from the Facebook groups "Hope for Lymphoma" and "Our MCL Family," will host its first-ever Mantle Cell Lymphoma Symposium on Saturday, November 12 from 8:30am - 3:45pm.

8 Nov 2011

DuoCort Pharma granted marketing authorization for adrenal insufficiency drug, Plenadren in Europe

The Swedish specialty pharma company, DuoCort Pharma, announced today that the European Commission has granted a European Marketing Authorisation for Plenadren (hydrocortisone, modified release tablet), an orphan drug for treatment of adrenal insufficiency in adults, bringing these patients their first pharmaceutical innovation in over 50 years.

7 Nov 2011

Psychological stress can trigger flares of vasculitis

In patients with a devastating form of vasculitis who are in remission, stress can be associated with a greater likelihood of the disease flaring, according to a new study by investigators at Hospital for Special Surgery.

6 Nov 2011