Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
Gene activity profiles in blood cells isolated from systemic sclerosis patients with interstitial lung disease predicted lung function responses to the immunosuppressant therapy CellCept (mycophenolate mofetil), a study has shown. These findings support the use of non-invasive gene profiling to identify patients who will best respond to CellCept…
New data from patient samples and a mouse model provide support for the further development of Chemomab Therapeutics‘ lead candidate, CM-101 — an antibody targeting the CCL24 protein — for the treatment of systemic sclerosis (SSc), according to two recent scientific presentations. Encouraged by the new data, the company…
Nailfold videocapillaroscopy (NVC), a technique to detect small changes in circulation, may be a promising biomarker of likely severe organ involvement in people with systemic sclerosis (SSc) although more data is needed, according to a recent study. “The generation of consistent high-quality research in this area may lead to…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
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…
Two medications — one for arthritis and the other for diabetes — were able to lessen scarring and inflammation in a mouse model of systemic scleroderma (SSc), according to a new study. These results support further research into the medications, tofacitinib and metformin, and others that target the JAK/STAT…
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…
Low muscle mass is associated with gastrointestinal (GI) bloating in patients with systemic sclerosis (SSc), a recent study revealed. Disease duration, severity, and activity, as well as skin thickening, also were higher in patients with low muscle mass. “At the best of our knowledge, this is the first study…
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…
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