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

R. Rodney Howell receives ASHG’s annual Advocacy Award

R. Rodney Howell receives ASHG’s annual Advocacy Award

The American Society of Human Genetics (ASHG) has named R. Rodney Howell, MD, Professor in the Department of Pediatrics, Chairman Emeritus of Pediatrics, and Member of the Hussman Institute for Human Genomics, at the University of Miami Leonard M. Miller School of Medicine, as the first recipient of its new, annual Advocacy Award. [More]
Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Today Claritas Genomics and Genetic Alliance announced a partnership to help patients and families find and participate in relevant research opportunities that will advance understanding of individual genetic disorders and development of new therapies. [More]
Pediatric study looks at evidence-based predictors of biphasic allergic reactions

Pediatric study looks at evidence-based predictors of biphasic allergic reactions

Children are more likely to have a repeat, delayed anaphylactic reaction from the same allergic cause, depending on the severity of the initial reaction. The first pediatric study to look at the predictors for this phenomenon was published today in Annals of Allergy, Asthma & Immunology. [More]
Study opens new area of discovery for different aspects of cell biology, biomedical research

Study opens new area of discovery for different aspects of cell biology, biomedical research

Every cell in the body uses phosphorylation, the process of adding a chemical tag to control a protein's function and fate, such as when it moves from one part of a cell to another or binds to other proteins. [More]
PNP Therapeutics granted FDA orphan drug designation for Gedeptin

PNP Therapeutics granted FDA orphan drug designation for Gedeptin

PNP Therapeutics Inc. announced today the Food and Drug Administration has granted orphan drug status to Gedeptin, the Company's lead product candidate (adenoviral vector expressing E. coli purine nucleoside phosphorylase gene) for the intratumoral treatment of anatomically accessible oral and pharyngeal cancers, including cancers of the lip, tongue, gum, floor of mouth, salivary gland and other oral cavities. [More]
Dell extends partnership with TGen to globally expand precision medicine trial for pediatric cancer

Dell extends partnership with TGen to globally expand precision medicine trial for pediatric cancer

Dell today announced its extended partnership with the Translational Genomics Research Institute to help clinical researchers and doctors globally expand the reach and impact of the world's first Food and Drug Administration-approved precision medicine trial for pediatric cancer. [More]
Frankfurt researchers decode molecular details that provide better understanding of neurodegenerative diseases

Frankfurt researchers decode molecular details that provide better understanding of neurodegenerative diseases

Quality control is important - this is not only applicable to industrial production but also true for all life processes. However, whereas an enterprise can start a large-scale recall in case of any doubt, defects in the quality control systems of cells are often fatal. [More]
Mast Therapeutics initiates Phase 3 extension study of vepoloxamer in sickle cell disease

Mast Therapeutics initiates Phase 3 extension study of vepoloxamer in sickle cell disease

Mast Therapeutics, Inc., a clinical-stage biopharmaceutical company leveraging its molecular adhesion and sealant technology (MAST) platform to develop novel therapies for sickle cell disease, heart failure, and arterial disease, today reported that it has initiated an open-label, multicenter Phase 3 extension study of vepoloxamer (MST-188) in sickle cell disease, referred to as "EPIC-E." [More]
Alizé Pharma presents clinical results from the AZP-531 program at the ADA 75th Scientific Sessions

Alizé Pharma presents clinical results from the AZP-531 program at the ADA 75th Scientific Sessions

Detailed data will be presented from the two Phase I trials conducted in 76 healthy volunteers and overweight or obese subjects... [More]
CORD calls upon governments, others to join forces to make Canada's Rare Disease Strategy a reality

CORD calls upon governments, others to join forces to make Canada's Rare Disease Strategy a reality

Today, on Parliament Hill, the Canadian Organization for Rare Disorders released Canada's Rare Disease Strategy and called upon the federal, provincial and territorial governments along researchers, healthcare providers, educators, employers, and the patient community to join forces to make the Strategy a reality. [More]
Lafora rare disease could be aggravated by oxidative stress

Lafora rare disease could be aggravated by oxidative stress

Neurodegenerative Lafora disease usually becomes apparent through seizures during adolescence and puberty and occurs as a consequence of defects in glycogen metabolism and in the cellular mechanisms that are responsible for its disposal. Researchers at the University of Valencia have led a study in which they propose that Lafora rare disease could be aggravated by oxidative stress. [More]
Stanford University professor named recipient of 2015 ECOG-ACRIN Young Investigator Award

Stanford University professor named recipient of 2015 ECOG-ACRIN Young Investigator Award

Heather Wakelee, MD, is the recipient of the 2015 ECOG-ACRIN Young Investigator Award, the ECOG-ACRIN Cancer Research Group announced today. Dr. Wakelee is associate professor of medicine in the Division of Oncology at the Stanford University School of Medicine in Stanford, Calif. [More]
Partners congratulate researchers on forming new biotechnology company

Partners congratulate researchers on forming new biotechnology company

The Children's Hospital of Eastern Ontario, The Ottawa Hospital, the University of Ottawa and McMaster University congratulate its researchers on forming Turnstone Biologics Inc., a biotechnology company focused on developing new treatments for cancer that harness the patient's own immune system. [More]
Tuberous Sclerosis Alliance to observe fourth annual TSC Global Awareness Day

Tuberous Sclerosis Alliance to observe fourth annual TSC Global Awareness Day

On May 15, the Tuberous Sclerosis Alliance (TS Alliance) will join tuberous sclerosis complex (TSC) organizations around the world to observe the fourth annual TSC Global Awareness Day. [More]
Stem cell disease model reveals how tumor suppressor may drive bone cancer

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, where the survival rate has not improved in 40 years despite treatment advances. [More]

Prolong Pharmaceuticals' SANGUINATE granted FDA Orphan Drug Designation for SCD treatment

Prolong Pharmaceuticals, LLC, a biopharmaceutical company dedicated to developing products for the treatment of anemias, cancers and their debilitating comorbidities, announced today that the U.S. Food and Drug Administration has granted Orphan Drug Designation for its flagship product SANGUINATE for the treatment of Sickle Cell Disease (SCD). [More]

CentoMD: World's largest genetic mutation database for rare diseases

CENTOGENE AG announces the launch of the world's largest genetic mutation database for rare diseases, CentoMD. CentoMD is a comprehensive and unique repository of genetic variants, including a huge number of unpublished pathogenic variants gathered from patients worldwide. [More]
Shire announces availability of Natpara (parathyroid hormone) for injection in U.S.

Shire announces availability of Natpara (parathyroid hormone) for injection in U.S.

Shire plc today announced that Natpara (parathyroid hormone) for injection is now available in the United States. The U.S. Food and Drug Administration approved Natpara as an adjunct to calcium and vitamin D to control hypocalcemia in patients with hypoparathyroidism on January 23, 2015. [More]
Patient with severe Alzheimer's shows promising benefits during treatment with Bryostatin drug

Patient with severe Alzheimer's shows promising benefits during treatment with Bryostatin drug

Researchers at the Blanchette Rockefeller Neurosciences Institute and the Marshall University Joan C. Edwards School of Medicine announced their findings from a new study entitled, "PSEN1 Variant in a Family with Atypical AD." An Alzheimer patient with very severe disease, genetically confirmed to have a known variant of PSEN1, showed promising benefits during treatment with the drug Bryostatin 1. [More]
First randomized, controlled trial of pharmacotherapy in PCD patients now in place

First randomized, controlled trial of pharmacotherapy in PCD patients now in place

Primary ciliary dyskinesia (PCD) is a rare, genetic respiratory tract disorder leading to progressive pulmonary dysfunction. It exhibits many problems typical for orphan diseases: delayed diagnosis, limited evidence-based knowledge etc. The European Union is funding BESTCILIA (Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia) to introduce uniform guidelines for PCD treatment and diagnosis across Europe. [More]
Advertisement
Advertisement