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The US Food and Drug Administration (FDA) has been preoccupied with COVID-19 for nearly 2 years. But that hasn’t distracted the agency from ensuring the development of therapies for rare disease patients, said Acting FDA Commissioner Janet Woodcock, MD. Dr. Woodcock spoke on October 19, 2021, the second day of the 2-day virtual National Organization for…
New gene therapy and gene editing therapeutics are being developed at a rapid pace and could benefit many patients with different rare genetic diseases. However, there are still some barriers to the expansion of these technologies. The future capabilities of gene therapy and gene editing were the focus of a discussion between representatives from the…
Genetic testing for people living with a rare disease is of great importance, especially since effective treatment can only be achieved following an accurate diagnosis. This was the focus of a session titled “Challenges in Access to Genetic Testing for Rare Disease Patients” that took place on October 19, 2021, at the 2-day National Organization…
A decentralized platform connecting researchers to coded data and samples from people with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was presented in a poster at the National Organization for Rare Disorders (NORD) Breakthrough Summit 2021. The platform, called CureDuchenne Link, is a data hub that connects the information provided by DMD and…
Gastrointestinal stromal tumor (GIST) and cholangiocarcinoma are very different types of rare cancers, but they share a crucial trait: few people have ever heard of them. Even so, about 22% of all cancer cases diagnosed worldwide are considered rare, making them collectively far more common than breast cancer (16% of the total), colorectal cancer (15%),…
Five experts in the rare disease and data science fields shared their experiences and thoughts on how advancements in data science can advance the treatment of rare diseases. David Scheer, president of Scheer & Company, moderated the panel discussion, which was part of the National Organization for Rare Disorders (NORD) Breakthrough Summit 2021. Presenters included…
COVID-19 could have profound implications on the way rare disease researchers conduct clinical trials, long after the pandemic itself subsides. During the pandemic, “the collaborations were incredible, and the ability to mobilize multidisciplinary groups was unlike anything I’ve ever seen before,” said Jeanine D’Armiento, MD, PhD, board chair of the Alpha-1 Foundation, a Miami, Florida-based…
Dithiazanine iodide is an antiparasitic compound that has anticancer properties in vitro and is associated with decreased mitochondrial electron transport protein expression, as well as cellular ATP depletion in cholangiocarcinoma cells, according to a poster being presented at the NORD Breakthrough Summit 2021. These results support the potential use of the compound as a therapy…
Researchers at Codexis Inc. engineered new α-glucosidase (GAA) enzyme variants that are substantially more stable than wild-type GAA. One or more of these variants could be better taken up by cells when used as enzyme replacement therapy (ERT) for Pompe disease, according to the researchers. Their high activity may also persist longer if used as…
The US public health system should prioritize rare diseases in the same way it has with COVID-19, said Christopher Austin, MD, founding director of the National Center for Advancing Translational Science (NCATS), a division of the National Institutes of Health (NIH). He said that as director of NCATS when the pandemic hit in early 2020,…
