Genetic Causes of Three Previously Unexplained Rare Diseases Identified

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.

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.

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.

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.

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.

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.

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.