News

A new technique of osteotomy — a surgery in which bone is cut to allow repositioning — may be an effective approach to correct severe bowed legs in people with X-linked hypophosphatemia (XLH), a case report suggests. The report also highlighted the importance of early XLH diagnosis to…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

Researchers found a new mutation in the PHEX gene that causes X-linked hypophosphatemia (XLH) in a Japanese family, according to a case report. Titled “Phenotypes of a family with XLH with a novel PHEX mutation,” the report was published in the journal Human Genome…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

In cases of suspected familial hypophosphatemia, sequencing the four disease-causing genes at once is a useful approach to determine the exact genetic cause and corresponding disease subtype, a case report suggests. Using that approach, researchers found a novel mutation in the PHEX gene, which was the cause of…

Identifying and treating X‐linked hypophosphatemia (XLH) early is key to improving quality of life for people with the disorder, particularly in developing countries, a case report shows. The report, detailing a child in Columbia with this disease, also highlights the difficulties facing doctors and patients with rare disorders in poorer…

Though the ongoing COVID-19 pandemic is profoundly affecting daily life around the world, Ultragenyx Pharmaceutical does not expect its supply of Crysvita (burosumab) to be affected. In a statement on its website, the company reassured people with X-linked hypophosphatemia (XLH) that the manufacturing and distribution of…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…