News

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

People with Lambert-Eaton myasthenia syndrome (LEMS) have a specific response pattern to repetitive nerve stimulation — known as RNS — that may enable physicians to easily distinguish such cases from the neuromuscular condition myasthenia gravis (MG), a study reports. The study, “Lambert-Eaton myasthenia syndrome:…

A $1.95 million federal grant has been awarded to researchers investigating the underlying cause of autoimmune diseases, which include Lambert-Eaton myasthenic syndrome (LEMS). Autoimmune disorders, collectively characterized by immune system attack against the body’s own tissues, are the third most common disease type in humans (after cancer and…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Autoantibodies against a protein called GRP78 may lead to paraneoplastic cerebellar degeneration (PCD) in people with Lambert-Eaton myasthenic syndrome (LEMS), a study suggests. The study, “GRP78 antibodies are associated with blood-brain barrier breakdown in paraneoplastic cerebellar degeneration in Lambert‐Eaton myasthenic syndrome,” was published in the…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Lambert‐Eaton myasthenic syndrome-associated diaphragm weakness and subsequent respiratory problems may impair heart function, a case study shows. The report, “Lambert Eaton Myasthenic Syndrome Presenting as Hypoventilation-Induced Right Heart Dysfunction,” was accepted for presentation at the American Thoracic Society (ATS) 2020 International Conference, which was planned…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…