News

Q&A With RARE-X Disease Data Platform Founder, Nicole Boice

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…

Genetic Testing Clues In on EDS Type for 3 Patients in China

A genetic testing technique called whole-exome sequencing (WES) revealed potentially disease-causing mutations in three people with Ehlers-Danlos syndrome (EDS) —  and provided evidence for the patients’ disease type — in a recent study. An accurate diagnosis of a patient’s EDS type is important for appropriate…

Rare Disease Day Events Bring Awareness, Equity to Patients

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Extensive Rehab Allows Teen With hEDS, Feeding Issues to Forgo GJ Tube

Extensive rehabilitation therapy given by a multidisciplinary team allowed a teenager with digestive problems due to hypermobile Ehlers-Danlos syndrome (hEDS) to forgo surgical feeding tube placement and still gain weight, a case study reports. “We believe that the combination of patient motivation, multidisciplinary intervention, and medication optimization led to successful…

Man’s Rare Genetic Defect Found To Be Cause of EDS in Daughter

A rare genetic mutation that arose in a man well before his birth was the cause of Ehlers-Danlos syndrome (EDS) in his daughter, a case study reported. This finding marks only the second reported case of EDS being transmitted through what’s known as gonosomal mosaicism. Study researchers suggested that “further observations will…

Family in China Has Two vEDS-causing COL3A1 Mutations

A family in China was found to carry two mutations causing vascular Ehlers-Danlos syndrome (vEDS) over multiple generations, a study reports. The mutations interacted such that their effect was beyond that of each mutation alone. “This is the first report of such a combination ever described to cause vEDS…