Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.
Tag: Rare Diseases
Oxford-Harrington Rare Disease Centre Hosts Virtual Event on Advancing Novel Therapies for Rare Diseases
The Oxford-Harrington Rare Disease Centre (OHC), a partnership of the University of Oxford and Harrington Discovery Institute at University Hospitals (UH), is hosting a virtual event on Monday, Feb. 27, 2023, in honor of the upcoming Rare Disease Day, which is celebrated across the globe on February 28 every year.
Mount Sinai Scientists Awarded Grant from Chan Zuckerberg Initiative to Advance Understanding and Therapeutics for Rare Blood Vessel Disease
Physician-scientist Fanny Elahi, MD, PhD, to lead research team in collaboration with non-profit organization
Scientists Receive $4.8M to Pursue Gene Therapy for ‘Incurable’ Disease
The California Institute for Regenerative Medicine has awarded UC San Diego researchers $4.8 million to advance a gene therapy to treat Friedreich’s ataxia, a rare but devastating neuromuscular disorder.
Researchers Aim to Use AI to Predict Rare Diseases
Penn Medicine researchers will help lead development of an algorithm to flag patients at risk of rare disease thanks to a $4.7 million NIH grant
Father’s Life is Saved after Receiving Heart, Kidney and Liver Transplant
After a rare disease caused organ failure, UC San Diego Heath transplant teams performed a heart, liver and kidney transplant on a patient. The surgery is a first for UC San Diego Health and a first in the nation to use three organs from a donor after circulatory death.
National Organization for Rare Disorders Designates The Mount Sinai Hospital as a Center of Excellence
The National Organization for Rare Disorders (NORD) has designated the Division of Medical Genetics and Genomics at The Mount Sinai Hospital as a Rare Disease Center of Excellence.
VUMC Named Center of Excellence by the National Organization for Rare Disorders
The Vanderbilt Undiagnosed Diseases Program (VUDP), which accepts patients with undiagnosed and rare diseases, will be part of a unique network of institutions dedicated to the outstanding treatment of rare disease patients and collaboration to improve standards of care, advance research and increase awareness about rare diseases in the broader medical and patient communities.
Johns Hopkins Medicine Receives New Distinction of Excellence for Treatment of Rare Diseases
Johns Hopkins Medicine (JHM) has been designated a National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence. The newly established designation recognizes centers who are leaders in the diagnosis and care of people with rare diseases. JHM shares the recognition with the Kennedy Krieger Institute.
Genetic Cause of Neurodevelopmental Disorder Discovered
University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked to certain neurodevelopmental disorders and intellectual disabilities.
CHOP Researchers Find Supplement Prevents Strokes in Patients with Rare Genetic Disorder
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.
Most dollars spent on top-selling orphan drugs don’t go to treat people with rare diseases
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.
Partners in Crime: Genetic Collaborator May Influence Severity of the Rare Disease, NGLY1
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.
Cross-Country Research Collaboration Brings First Ever Lupus Estimates
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.
Yale Cancer Center Study Shows Caplacizumab Not Cost Effective for Rare Blood Disorder
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.
Big drug costs for small patients with rare diseases, study finds
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.
Positive Data Reported in a Multinational Clinical Trial Investigating New Treatment of Niemann-Pick disease Type C
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.
Pulmonary Fibrosis Awareness Month Highlights Realities of Rare Disease
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.
Existing Class of Drugs May Improve Neurological Function in Patients with Rare, Aggressive Genetic Disorder
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.
New Collection of Rett Syndrome Stem Cells Available from Coriell Institute for Medical Research
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.
Umbilical Cord Blood Successfully Treats Rare Genetic Disorders in Largest Study to Date
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.
Unexpected Mental Illnesses Found in a Spectrum of a Rare Genetic Disorder
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.
Coriell Institute Awarded $9.2M Biobanking Grant from National Institute of General Medical Sciences
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.
Drug development for rare diseases affecting children is increasing
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
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…
Fertility Treatment, Not Maternal Age, Causes Epigenetic Changes in Mouse Offspring
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.
$28M Grant Funds Cincinnati Children’s as Coordinating Center for Rare Diseases Research Network
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.