Rare Disease News and Research

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Many pediatric chest X-rays unnecessary, offer no clinical benefit

Researchers at Mayo Clinic found that some children are receiving chest X-rays that may be unnecessary and offer no clinical benefit to the patient, according to a study presented today at the annual meeting of the Radiological Society of North America.

3 Dec 2014

Oncolytics Biotech submits Orphan Drug Designation for pancreatic, ovarian cancers

Oncolytics Biotech Inc. ("Oncolytics") (TSX:ONC, NASDAQ: ONCY) today announced that it has submitted applications for Orphan Drug Designation to the U.S. Food and Drug Administration ("FDA") for REOLYSIN® for the treatment of pancreatic and ovarian cancers.

2 Dec 2014

Apellis Pharmaceuticals completes $33M private placement of Series C Preferred Stock

Apellis Pharmaceuticals, Inc., a leading biotechnology company applying immunotherapy to autoimmune disease, today announced that it has completed a $33M private placement of its Series C Preferred Stock.

2 Dec 2014

Researchers set up innovative project to monitor physical activity of patients with haemophilia

The research group Intelligent Data Analysis Laboratory from the School of Engineering Universitat de València (UV) and a team of scientists at the Faculty of Physiotherapy led by Professor Felipe Querol have set up an innovative project for monitoring the physical activity of people with haemophilia through individual devices with the purpose of developing patterns which help to improve their quality of life and treatments.

26 Nov 2014

PPMD, Santhera Pharmaceuticals collaborate to study Duchenne muscular dystrophy

Parent Project Muscular Dystrophy, the leading advocacy organization working to end Duchenne muscular dystrophy (Duchenne) and Santhera Pharmaceuticals, a Swiss specialty pharmaceutical company focusing on the development and marketing of innovative pharmaceutical products for the treatment of mitochondrial and neuromuscular diseases, will collaborate on a benefit/risk study in Duchenne.

25 Nov 2014

UC San Diego Health System opens nation's first angioedema treatment center

UC San Diego Health System in partnership with the U.S. Hereditary Angioedema Association, a non-profit patient advocacy organization, has opened the nation's first dedicated center for diagnosing and treating diverse forms of swelling, known collectively as angioedema.

24 Nov 2014

Moffitt announces development of innovative investigational biologic agent for MDS

In a major step to treat patients living with Myelodysplastic Syndromes (MDS), a group of diseases that affect the bone marrow and blood, Moffitt Cancer Center today announced the development of an innovative investigational biologic agent that could improve patient response and outcomes for MDS and other diseases.

18 Nov 2014

FDA grants Orphan Drug Designation to Juno's JCAR015 leukemia T cell product candidate

Juno Therapeutics, Inc. announced today that the FDA has granted Orphan Drug Designation to its JCAR015 chimeric antigen receptor product candidate. The designation was granted for treatment of acute lymphoblastic leukemia. JCAR015 Phase I trials are currently underway at Juno's collaboration partner, Memorial Sloane Kettering Cancer Center.

18 Nov 2014

New findings could help develop therapeutic options for glycogen storage disease

Glycogen storage disorders, which affect the body's ability to process sugar and store energy, are rare metabolic conditions that frequently manifest in the first years of life. Often accompanied by liver and muscle disease, this inability to process and store glucose can have many different causes, and can be difficult to diagnose.

11 Nov 2014

Inovio Pharmaceuticals reports Q3 2014 financial results, provides corporate update

Inovio Pharmaceuticals, Inc. today reported financial results for the quarter ended September 30, 2014.

10 Nov 2014

Murdoch University researchers receive NHMRC grant to develop genetic drugs for rare diseases

Murdoch University researchers from the Centre for Comparative Genomics have received almost $800,000 in funding from the National Health and Medical Research Council to develop genetic drugs to treat rare diseases.

6 Nov 2014

Researchers develop mouse model that reproduces most typical features of Noonan syndrome

Noonan syndrome is a rare disease that is characterised by a set of pathologies, including heart, facial and skeletal alterations, pulmonary stenosis, short stature, and a greater incidence of haematological problems (mainly juvenile myeloid leukaemia, or childhood leukaemia).

6 Nov 2014

FDA approves CYRAMZA in combination with paclitaxel for advanced adenocarcinoma

Eli Lilly and Company announced today that the U.S. Food and Drug Administration (FDA) has approved CYRAMZA (ramucirumab) in combination with paclitaxel (a type of chemotherapy) as a treatment for people with advanced or metastatic gastric (stomach) or gastroesophageal junction (GEJ) adenocarcinoma whose cancer has progressed on or after prior fluoropyrimidine- or platinum-containing chemotherapy.

5 Nov 2014

Cypher researchers identify new genetic cause of severe epileptic encephalopathy

Cypher Genomics, Inc., the genome informatics company, announced today the identification of de novo KCNB1 missense mutations as a novel genetic cause of severe epileptic encephalopathy. Cypher’s co-founder and Chief Scientific Officer Ali Torkamani, Ph.D. reviewed the data today at a platform presentation at the ASHG 2014 meeting being held October 18 to 22 in San Diego.

21 Oct 2014

UNMC researcher receives $3.3 million grant to study rare diseases that affect children

University of Nebraska Medical Center researcher, William Rizzo, M.D., has received a five-year, $3.3 million grant to study 10 rare diseases that affect children beginning in infancy or early childhood and throughout their life.

20 Oct 2014

Research on zebrafish helps identify cause of unknown genetic disorder

Research in zebrafish has helped identify the cause of an unknown genetic disorder affecting a boy and two of his uncles, scientists report in an article published October 14 in the journal GENETICS.

16 Oct 2014

Rare Diseases Clinical Research Network awarded $29 million NIH grant

The National Institutes of Health has awarded $29 million to the Rare Diseases Clinical Research Network, which is dedicated to furthering translational research and investigating new treatments for patients with rare diseases.

14 Oct 2014

Drugmakers sue to stop expansion of drug discount program

The trade group for pharmaceutical companies, PhRMA, has filed another lawsuit to try to block a government rule meant to widen the number of products included in a federal drug discount program for so-called safety net hospitals and clinics.

13 Oct 2014

TSRI, STSI researchers receive NIH grants to set up platforms to mine biomedical data

San Diego researchers at The Scripps Research Institute and Scripps Translational Science Institute will receive more than $4.4 million as part of a National Institutes of Health initiative called "Big Data to Knowledge" (BD2K).

10 Oct 2014

Pediatric specialist in EGIDs helps lead $6.25 million NIH clinical research project

A pediatric specialist in eosinophilic gastrointestinal diseases (EGIDs) at the University of Colorado School of Medicine and Children's Hospital Colorado will help lead a five-year, $6.25 million clinical research project recently funded by the National Institutes of Health.

9 Oct 2014