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Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…

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…

A collapsed lung and a new TNXB gene mutation were identified for the first time in a patient diagnosed with classical-like Ehlers-Danlos syndrome (clEDS), according to a recent case report. The report, “Recurrent pneumothorax in case of tenascin-X deficient Ehlers-Danlos syndrome:…

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

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…

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 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…

A study recommends genetic testing if a pregnant woman is suspected of having Ehlers-Danlos syndrome (EDS), especially vascular EDS because this disease type carries an increased risk of uterine rupture during childbirth. The case study, “Twin Pregnancy with Untyped Ehlers-Danlos Syndrome Requiring Prompt Genetic Testing: A Case…

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…