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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]
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]
Researchers discover genetic factors involved in development of early-onset ulcerative colitis

Researchers discover genetic factors involved in development of early-onset ulcerative colitis

UCLA researchers were part of a team that has discovered the interplay of several genetic factors that may be involved in the development of early-onset ulcerative colitis, a severe type of inflammatory bowel disease. [More]
Concordia's subsidiary signs collaboration deal with Orphan Canada for PHOTOFRIN

Concordia's subsidiary signs collaboration deal with Orphan Canada for PHOTOFRIN

Concordia Healthcare Corp., a diverse healthcare company focused on legacy pharmaceutical products, orphan drugs, and medical devices for the diabetic population, today announced that its subsidiary, Pinnacle Biologics, Inc., a biopharmaceutical research and development company specializing in rare diseases, has signed a collaboration agreement for PHOTOFRIN® with Orphan Canada, a Toronto-based specialty pharmaceutical company that in‐licenses therapies for rare disorders and specialty medicines within Canada. [More]
Study: One in every 200 Ontarians diagnosed with inflammatory bowel disease

Study: One in every 200 Ontarians diagnosed with inflammatory bowel disease

One in every 200 Ontarians has been diagnosed with inflammatory bowel disease (IBD), with the number of people living with the disease increasing by 64 per cent between 1999 and 2008, according to a study by researchers at the Institute for Clinical Evaluative Sciences, the Children's Hospital of Eastern Ontario, and the Ottawa Hospital Research Institute. [More]
DNA testing for congenital cataracts can accurately diagnose diseases linked to childhood blindness

DNA testing for congenital cataracts can accurately diagnose diseases linked to childhood blindness

Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published online today in Ophthalmology, the journal of the American Academy of Ophthalmology. [More]
Study shows bryostatin plays key role in slowing or reversing Alzheimer's disease

Study shows bryostatin plays key role in slowing or reversing Alzheimer's disease

Neurotrope, Inc. (OTCQB: NTRP) today announced that results from a new study, entitled, "PKCe Deficits in Alzheimer's Disease Brains and Skin Fibroblasts," published in the recent edition of the peer-reviewed Journal of Alzheimer's Disease and co-authored by Tapan K. Khan, Ph.D.; Abhik Sen, Ph.D.; Jarin Hongpaisan, Ph.D.; Chol S. Lim, Ph.D.; Thomas J. Nelson, Ph.D., and; Dr. Daniel L. Alkon, each of the Blanchette Rockefeller Neurosciences Institute (BRNI), provide further indication of the role that protein kinase C epsilon (PKCe) may play in the potential treatment of Alzheimer's disease (AD). [More]
Enzyme therapy may prevent skeletal abnormalities associated with neurofibromatosis type-1

Enzyme therapy may prevent skeletal abnormalities associated with neurofibromatosis type-1

An enzyme therapy may prevent skeletal abnormalities associated with the genetic disorder neurofibromatosis type-1, Vanderbilt investigators have discovered. [More]
Scientists identify mechanism by which inherited neurological disease causes muscle weakness in men

Scientists identify mechanism by which inherited neurological disease causes muscle weakness in men

Researchers at University of California, San Diego School of Medicine have identified the mechanism by which a rare, inherited neurodegenerative disease causes often crippling muscle weakness in men, in addition to reduced fertility. [More]