Rare Disease News and Research RSS Feed - Rare Disease News and Research

Study sheds light on clinical and biological characteristics of male breast cancer

Study sheds light on clinical and biological characteristics of male breast cancer

Results of the EORTC10085/TBCRC/BIG/NABCG International Male Breast Cancer Program conducted in both Europe and in the United States and presented at the 2014 San Antonio Breast Cancer Symposium found significant improvement in survival for men with breast cancer, but this improvement was not as good as that observed for women. [More]
Spark Therapeutics, Pfizer partner to develop SPK-FIX for potential treatment of hemophilia B

Spark Therapeutics, Pfizer partner to develop SPK-FIX for potential treatment of hemophilia B

Spark Therapeutics, a late-stage gene therapy company developing treatments for debilitating genetic diseases, announced today that it has entered into a global collaboration with Pfizer Inc. for the development and potential commercialization of SPK-FIX, a development program advancing proprietary, bio-engineered adeno-associated virus (AAV) vectors for the potential treatment of hemophilia B. [More]
Apellis Pharmaceuticals completes $33M private placement of Series C Preferred Stock

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. [More]
Researchers set up innovative project to monitor physical activity of patients with haemophilia

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. [More]
PPMD, Santhera Pharmaceuticals collaborate to study Duchenne muscular dystrophy

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. [More]
UC San Diego Health System opens nation's first angioedema treatment center

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. [More]
Moffitt announces development of innovative investigational biologic agent for MDS

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. [More]
New findings could help develop therapeutic options for glycogen storage disease

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. [More]
Murdoch University researchers receive NHMRC grant to develop genetic drugs for rare diseases

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. [More]
Researchers develop mouse model that reproduces most typical features of Noonan syndrome

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). [More]

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. [More]
UNMC researcher receives $3.3 million grant to study rare diseases that affect children

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. [More]
Research on zebrafish helps identify cause of unknown genetic disorder

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. [More]

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. [More]
Pediatric specialist in EGIDs helps lead $6.25 million NIH clinical research project

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. [More]
Researchers discover rare disease that affects heart rate, intestinal movements

Researchers discover rare disease that affects heart rate, intestinal movements

Physicians and researchers at CHU Sainte-Justine, Universit- de Montr-al, CHU de Qu-bec, Universit- Laval, and Hubrecht Institute have discovered a rare disease affecting both heart rate and intestinal movements. [More]
Gaucher disease: an interview with Dr Clement Olivier, Shire

Gaucher disease: an interview with Dr Clement Olivier, Shire

Gaucher disease is the most common condition within a family of rare diseases known as the lysosomal storage diseases. The disease causes lipids to accumulate in cells, which is why it is referred to as a storage disorder. The accumulation occurs mainly in the spleen, liver, and bones, but may also occur in the lungs, heart, and central nervous system. [More]
FDA grants multiple Orphan Drug Designations for CytRx's aldoxorubicin

FDA grants multiple Orphan Drug Designations for CytRx's aldoxorubicin

CytRx Corporation, a biopharmaceutical research and development company specializing in oncology, today announced that the U.S. Food and Drug Administration has granted multiple Orphan Drug Designations for the Company's lead drug candidate, aldoxorubicin, in three indications: glioblastoma multiforme (GBM), small cell lung cancer and ovarian cancer. [More]
Yale University researchers study potential new treatment to reverse effects of pulmonary fibrosis

Yale University researchers study potential new treatment to reverse effects of pulmonary fibrosis

Yale University researchers are studying a potential new treatment that reverses the effects of pulmonary fibrosis, a respiratory disease in which scars develop in the lungs and severely hamper breathing. [More]
Synthetic Biologics' SYN-005 antibody gets FDA Orphan Drug designation for Pertussis treatment

Synthetic Biologics' SYN-005 antibody gets FDA Orphan Drug designation for Pertussis treatment

Synthetic Biologics, Inc., a biotechnology company developing novel anti-infective biologic and drug programs targeting specific pathogens that cause serious infections and diseases, announced today that the U.S. Food and Drug Administration has granted Orphan Drug designation to the Company's proprietary SYN-005 monoclonal antibody (mAb) combination for the treatment of Pertussis, more commonly known as whooping cough. [More]