News

Sarcoidosis affecting the spinal cord tends to result in distinct patterns visible on MRIs of the spine, which may help in properly diagnosing this disease type, a new study reports. The study, “Clinical and MRI phenotypes of sarcoidosis-associated myelopathy,” was published in the journal Neurology Neuroimmunology…

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.

ATYR1923, a candidate therapy for pulmonary sarcoidosis, binds specifically to the neuropilin-2 (NRP2) receptor protein, which is located at the surface of immune cells responsible for inflammation and granuloma formation in lung sarcoidosis, the treatment’s developer, aTyr Pharma, has announced. These findings are described in two posters,…

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…

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…

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…

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…

Sarcoidosis, and the medications prescribed to patients with the disease, do not lead to worse outcomes from COVID-19 infection, according to preliminary results of a survey conducted by the Foundation for Sarcoidosis Research (FSR). Though more participants are needed to confirm the results, the data are noteworthy…

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…

An enzyme called chitotriosidase appears to be a reliable biomarker of sarcoidosis, a study suggests. The activity of this enzyme is correlated with sarcoidosis disease activity, severity, dissemination throughout the body, and may reflect the number of active granulomas within a given patient.