Rare Disease News and Research

RSS

Professor Illana Gozes from Tel Aviv University receives 2016 RARE Champion of Hope award

Tel Aviv University's Prof. Illana Gozes was awarded the 2016 RARE Champion of Hope -- Science International Prize by Global Genes, a leading global advocacy non-profit organization for patients and families fighting rare and genetic diseases.

5 Oct 2016

Mayo Clinic's biorepository earns CAP accreditation for high-quality operations

The Mayo Clinic Center for Individualized Medicine's biorepository has earned the College of American Pathologists biorepository accreditation, an internationally recognized gold standard of operational excellence.

30 Sep 2016

Tools of Undiagnosed Diseases Network help unravel mystery of rare genetic disease

The first patient was a mystery. Arriving at Duke six years ago at the age of three, the youngster had mild developmental delays and physical characteristics that included a large body and large head circumference.

29 Sep 2016

Researchers now developing digital support device to help CF sufferers monitor treatment

People with cystic fibrosis (CF) need help to ensure they are getting correct nutrition and the right amount of enzymes. They also need constant reminders. Researchers are now developing a digital support device to promote autonomy, but are finding that this is no easy task.

28 Sep 2016

Novartis gets three FDA approvals for expanded use of biologic drug to treat rare autoinflammatory diseases

Novartis announced today that the US Food and Drug Administration has granted three simultaneous approvals for the expanded use of Ilaris (canakinumab) to treat three rare and distinct types of Periodic Fever Syndromes.

24 Sep 2016

New survey shows majority of patients happy with how physicians manage discussion on IPF diagnosis

A diagnosis of IPF is news that few patients want to hear from their physician, but the reality is that approximately 3 million people worldwide are living with idiopathic pulmonary fibrosis (IPF).

24 Sep 2016

CIRM approves $5.2 million for research on life-long treatment for rare childhood disease

Cystinosis is a rare disease that usually strikes children before they are two years old and can lead to end stage kidney failure before their tenth birthday.

22 Sep 2016

Sarepta Therapeutics wins accelerated approval from FDA for Duchenne muscular dystrophy drug

The U.S. Food and Drug Administration today approved Exondys 51 (eteplirsen) injection, the first drug approved to treat patients with Duchenne muscular dystrophy (DMD).

19 Sep 2016

Researchers identify mutant traits in mouse for many human disease genes

About one-third of all genes in the mammalian genome are essential for life. An international, multi-institutional research collaboration identified, for the first time, mutant traits in the mouse for 52 human disease genes, which significantly contributes to the understanding of the genetic bases for some human diseases, including cardiovascular defects, spina bifida, and metabolic disorders, among many others. The study was published this week in Nature.

19 Sep 2016

Alexion initiates new global Uncommon Strength campaign to raise awareness of rare diseases

Alexion Pharmaceuticals, Inc. today announced the launch of Uncommon Strength, a global campaign to raise awareness of rare diseases through the celebration of the extraordinary resilience and inner strength of those impacted by these diseases.

15 Sep 2016

New drug holds potential for treating advanced mastocytosis

Most people have never heard of mastocytosis. It's a rare, sometimes deadly, immune disorder. Now new research may help those with advanced mastocytosis and possibly many more people, too.

6 Sep 2016

MedUni Vienna scientists aim to identify prognostic markers for cutaneous lymphomas

Primary cutaneous lymphomas, cancers of the lymphatic system, occur in the skin and originate either from T-lymphocytes (T-cell lymphomas, incidence 75%) or in B-cell lymphocytes (B-cell lymphomas, 25%).

30 Aug 2016

An Introduction to Specialty Pharmaceuticals

In this interview, News Medical talks to David Moran, Managing Director of Clinigen SP about specialty pharmaceuticals.

From Clinigen Group 29 Aug 2016

Is the virtual gene panel the way forward asks Congenica at Dx Summit

Although the current practice of analysing defined gene panels for a specific disease has great utility, it is of limited benefit when a condition is not well defined.

29 Aug 2016

QOL Medical to introduce new disease awareness-raising tool at WCPGHAN 2016

QOL Medical, LLC announced today they will introduce a ground breaking hyper-targeted marketing tool at the 5th Annual World Congress of Pediatric Gastroenterology, Hepatology and Nutrition, from October 5th-8th 2016 in Montreal, Canada.

27 Aug 2016

Added benefit not proven for orphan drug in treatment of adults with stomach cancer

Ramucirumab (trade name: Cyramza) is a monoclonal antibody, which blocks a receptor, reducing the growth of blood vessels and so reducing blood supply to the tumours.

19 Aug 2016

FDA grants Orphan Drug Designation to CD4CAR therapy for treatment of peripheral T-cell lymphoma

iCell Gene Therapeutics today (Aug. 11) announced that the Food and Drug Administration has granted Orphan Drug Designation for its chimeric antigen receptor engineered T-cells directed against the target protein CD4 (CD4CAR) for the treatment of peripheral T-cell lymphoma (PTCL).

12 Aug 2016