Rare Disease News and Research

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TERE1 gene mutation also contributes to invasive bladder cancer

Research conducted by Dr. Jayne S. Weiss, Professor and Chair of Ophthalmology at LSU Health Sciences Center New Orleans, and colleagues has found that a defect in a gene involved in a rare disease of the cornea also contributes to the progression of invasive bladder cancer.

2 Nov 2011

LA BioMed's lead investigator hopes to bring PAH awareness this November

As the month of November kicks off PH Awareness Month, Dr. Ronald Oudiz - lead investigator at the Los Angeles Biomedical Research Institute (LA BioMed) - hopes to bring greater awareness to this disorder that has affected the lives of so many. Dr. Oudiz is a pioneer in this field, having received the 2011 Award for Excellence earlier this year from the Pulmonary Hypertension Association for his dedication to find new ways to treat this often fatal disease.

1 Nov 2011

Researchers uncover molecular pathway critical to cardiac arrhythmia

University of Maryland School of Medicine researchers have uncovered a previously unknown molecular pathway that is critical to understanding cardiac arrhythmia and other heart muscle problems.

27 Oct 2011

Children with PAH may benefit from sildenafil treatment

Sildenafil is currently approved for adult pulmonary arterial hypertension (PAH); however, new research presented at CHEST 2011, the 77th annual meeting of the American College of Chest Physicians (ACCP), shows the drug may also provide significant benefits for children with PAH, helping to improve both oxygen delivery and exercise capacity.

24 Oct 2011

RCSI study: Alpha-1 antitrypsin deficiency more prevalent in Ireland

Researchers from the Royal College of Surgeons in Ireland (RCSI), Beaumont Hospital, and Trinity College Dublin have conducted a study which has found that Ireland has one of the highest incidences in the world of a genetic condition that causes severe hereditary emphysema.

20 Oct 2011

Whole genome sequencing study to determine causes of idiopathic human diseases

Scripps Health announced today it has launched an innovative clinical research study that is using whole genome sequencing to help determine the causes of idiopathic human diseases -- those serious, rare and perplexing health conditions that defy a diagnosis or are unresponsive to standard treatments.

18 Oct 2011

Women to benefit from new TFRI ovarian cancer initiative

Women throughout the world will benefit from a new, pan-Canadian Terry Fox Research Institute (TFRI) initiative that aims to change the way in which ovarian cancer is diagnosed and managed.

14 Oct 2011

GeneDx launches new genetic test to accurately diagnose rare diseases

At the joint conference of the American Society of Human Genetics/International Congress on Human Genetics in Montreal on October 12, GeneDx, one of the foremost genetics laboratories in the world and a subsidiary of Bio-Reference Laboratories, Inc., is announcing a first-of-its-kind test that will enable physicians and patients to more accurately identify the genetic cause of rare diseases.

13 Oct 2011

Isis designates ISIS-AATRx candidate in collaboration with GSK

Isis Pharmaceuticals, Inc. announced today that it has designated the second development candidate, ISIS-AATRx, in its collaboration with GlaxoSmithKline

12 Oct 2011

Rare and severe hypoglycemia could be genetic

The life-threatening condition depicts the fact that the body does not have enough energy to function. Scientists at the University of Cambridge say mutations in the AKT2 gene are to blame. Writing in the journal Science, they say there are already cancer drugs which target a similar process.

10 Oct 2011

Study identifies three new chromosomal regions implicated in susceptibility to melanoma

The genomic analysis technologies enable the study of genetic factors related to numerous diseases. In few areas this researches brought such a big and useful volume of information as in the case of melanoma.

10 Oct 2011

Scientists discover rare genetic alteration responsible for hypoglycaemia

Cambridge scientists have identified the cause of a rare, life-threatening form of hypoglycaemia. Their findings, which have the potential to lead to pharmaceutical treatments for the disorder, were published today, 07 October, in the journal Science.

7 Oct 2011

Smaller and faster clinical drug trials could improve gains in cancer survival

With the advent of personalised medicine, gains in cancer survival over the long term could be improved by running smaller, faster trials with less stringent evidence criteria, a researcher told the 2011 European Multidisciplinary Cancer Congress.

26 Sep 2011

Duplication of RPS6KA3 gene produces limited family intellectual disability

The financial contributions made some years ago by individuals and public administration bodies in the telemarathon solidarity events on the Basque Public Broadcasting Corporation (EiTB) and subsequently channelled through the Basque Foundation for Health Innovation and Research (BIOEF), has resulted in undertaking successful innovative research at the Cruces Hospital near Bilbao in the Basque province of Bizkaia, describing a new syndrome of limited family intellectual disability.

26 Sep 2011

Alexion receives FDA approval for Soliris to treat atypical Hemolytic Uremic Syndrome

The U.S. Food and Drug Administration today approved Soliris (eculizumab) to treat patients with atypical Hemolytic Uremic Syndrome (aHUS), a rare and chronic blood disease that can lead to kidney (renal) failure and is also associated with increased risk of death and stroke.

26 Sep 2011

Viewpoints: Ron Paul, USA Today on individual mandate; NYT's Greenhouse on court challenges to health law

Massachusetts leads the nation in health insurance coverage of its citizens, and Texas is dead last. You'd think that former Massachusetts governor Mitt Romney would be bragging about his role in making his state No. 1, and that Texas Gov. Rick Perry would be embarrassed by how poorly his state is doing. But that's not how the script is playing out … That's odd, though, because the mandate was born as a conservative response to President Clinton's much maligned health reform proposal.

23 Sep 2011

Digna Biotech receives FDA Orphan Drug status for cardiotrophin-1 to treat ALF

Digna Biotech, a Spanish biotechnological company, announces that the Food and Drug Administration (FDA) granted cardiotrophin-1 (CT-1) Orphan Drug status for use in the treatment of acute liver failure.

22 Sep 2011

Mayo Clinic, SK biopharmaceuticals collaborate to discover new ALS drugs

South Korean biotech SK biopharmaceuticals announced yesterday that they signed an agreement to collaborate with the Mayo Clinic for the discovery of new drugs targeting Amyotrophic Lateral Sclerosis.

20 Sep 2011

FDA grants orphan drug designation for Avedro's VibeX to treat Keratoconus

Avedro, Inc. announced today that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to the Company's VibeX for use with its KXL System (UVA irradiation) for Corneal Cross-linking to treat Keratoconus.

12 Sep 2011

Tics are not a rare or uncommon disorder

Experts have confirmed it: tics are not a rare or uncommon disorder. It is the second study to be conducted in Spain to date, and the first of great importance, revealing that the prevalence of these motor disorders in the child population is 16.86%. The incidence is greater in boys than girls, and they tend to disappear or reduce with age.

9 Sep 2011