University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked to certain neurodevelopmental disorders and intellectual disabilities.
Researchers have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder. Additionally, the findings suggest that the supplement could be used to both block precipitation of and break up the formation of amyloid plaque deposits, a common feature found in serious forms of dementia.
Pharmaceutical companies get special protection from the FDA for orphan drugs aimed at rare diseases, but a study shows high spending for common diseases for some such drugs. Just 21% of the total dollars spent in 2018 on 15 top-selling partial orphan drugs went to the treatment of rare diseases, while more than 70% went to the treatment of common diseases.
In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. Since then, more than 60 additional patients have been found. University of Utah Health geneticist Clement Chow is investigating the disease, which affects every system of the body.
A meta-analysis of lupus finds the disease is less common than previously thought, but disproportionally affects women and racial and ethnic minorities of both sexes.
In a new study by Yale Cancer Center researchers, the drug caplacizumab is shown not to be cost-effective in treating thrombotic thrombocytopenic purpura (TTP) when added to the standard-of-care.
Only about one in every 170 children take them. But “orphan drugs” accounted for 1 in every 15 private insurance dollars spent on children’s health care in the United States in 2018, according to a new study. That’s up 65% from just five years before.
A multinational clinical trial of for the treatment of Niemann-Pick disease Type C (NPC) demonstrated a statistically significant and clinically meaningful improvement in symptoms, functioning, and quality of life in both primary and topline secondary endpoints for both pediatric and adult patients with NPC.
September’s Pulmonary Fibrosis Awareness Month shares crucial realities and insights about the rare disease, its symptoms and helpful resources provided by the Pulmonary Fibrosis Foundation to educate the public about this devastating disease which impacts over 200,000 Americans.
New findings show that some patients with a rare and aggressive form of leukodystrophy may benefit from receiving treatment with a class of targeted therapy drugs that could improve their neurological function.
The Coriell Institute for Medical Research has added a new collection of stem cells to its biobank offerings. The new collection is a result of a collaboration between Coriell and the Rett Syndrome Research Trust (RSRT) and consists of 10 lines of human induced pluripotent stem cells created from blood donated by individuals with Rett syndrome.
Infusing umbilical cord blood – a readily available source of stem cells – safely and effectively treated 44 children born with various non-cancerous genetic disorders, including sickle cell, thalassemia, Hunter syndrome, Krabbe disease, MLD, and an array of immune deficiencies.
UC Davis MIND Institute researchers found an unexpected spectrum of mental illnesses in patients with a rare gene mutation. These patients had a “double hit” condition that combined features and symptoms of fragile X syndrome and premutation disorder, in addition to a range of psychiatric symptoms. The findings revealed the need for clinicians to consider the complexities of the co-existing conditions of patients with both psychological and fragile X associated disorders.
The Coriell Institute for Medical Research has been awarded a $9.2 million grant through an open competition from the National Institute of General Medical Sciences (NIGMS). This five-year award keeps Coriell in place as the steward of the NIGMS Human Genetic Cell Repository, a world-renowned collection of high quality cell lines and DNA samples representing genetic diseases, distinct human populations around the world, and more.
The number of treatments for rare diseases affecting children has increased, a new study suggests. But federal incentives intended to encourage drug development for rare conditions are being used more often to expand the use of existing drugs rather than for creating new ones.
Rare diseases: More common than you think In Canada, 1 in 25 children is born with a rare disease. One-third of those children will not reach their 5th birthday. Collectively, rare diseases are a major contributor to childhood mortality and disease in Canada, accounting…
Epigenetic disorders are more common among children born through assisted reproductive technology. A new mouse study suggests that the fertility treatments themselves are to blame, not the age of the mother.
Cincinnati Children’s will use a $28M federal grant to serve as the data coordinating center for the Rare Diseases Clinical Research Network. The network includes 20 groups of medical centers searching for improved treatments for hundreds of rare diseases.