News

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…

Doctors should consider the possibility of vascular Ehlers–Danlos syndrome (EDS) when seeing a patient with recurrent pneumothorax — the presence of air in the space between the lungs and the chest wall — that’s resistant to conventional therapy, according to a case report. The report described a 19-year-old man…

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…

Scientists finally may have discovered a gene mutation that associates with hypermobile Ehlers-Danlos syndrome (hEDS) — and their findings, eagerly awaited by the hEDS patient community, are expected to be written up within the next six months, they said. While known mutations are linked with various EDS subtypes, hEDS cases…

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…

Some people diagnosed with periodontal Ehlers-Danlos syndrome (pEDS) may also have vascular abnormalities, a case series highlights. Although rare, these cases add to previous reports of vascular complications in pEDS patients and support the need for comprehensive vascular assessment in this patient population. This information will likely help to…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

Scientists have identified a set of new genetic mutations as the likely cause of bone fractures during the embryonic development of a baby born to a woman with hypermobile Ehlers-Danlos syndrome (hEDS). One of the mutations was found in the CCDC134 gene, which had been previously linked with bone fragility. These…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…