BPAN Warriors

HOW COVID-19 IS CHANGING RARE DISEASE RESEARCH

While Covid has made many aspects of living with a rare disease more difficult, it has inspired policies and techniques that could help rare disease research progress more smoothly both during and after the pandemic.

"Rare disease advocates like the parent-led BPAN Warriors are working with Ciitizen to propel research into less-understood diseases like Beta-propeller Protein-Associated Neurodegeneration (BPAN), which is caused by mutations in the gene WDR45, located on the X chromosome. Individuals with the BPAN mutation are developmentally delayed during childhood, experiencing clumsiness, trouble walking, seizures and generalized cerebral atrophy. During adolescence or adulthood, affected individuals experience a relatively sudden onset of progressive dystonia-parkinsonism and cognitive decline.

“A single lab report or a single test result only tells part of a story,” Sarah Chisholm, Founder of BPAN Warriors, said in a press release about the study’s launch. “Ciitizen provides us with the ability to rapidly assimilate and analyze 1000’s of points of data, across a large cohort of BPAN patients.”

https://medcitynews.com/2021/03/how-covid-19-is-changing-rare-diseases-research/