Mary Chapman, features writer —

From joining the “Hands of Hope” challenge to adding a Facebook profile frame, supporters globally are poised to mark World Sanfilippo Awareness Day, observed each Nov. 16 to bring attention to the genetic disorder thought to affect one in 70,000 individuals. The awareness campaign targets the general public…

In March, after Alina and Jeremy Croke shared a TikTok video that communicated their $1 million goal to help find a treatment for their young son, Simon, and others who have Sanfilippo syndrome, they were taken aback by the support. The video went viral. What truly surprised the…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

A film crew visited Alina and Jeremy Croke’s Texas home last spring to make a video about their young son, Simon, in hopes of raising $1 million to help find a treatment for Sanfilippo syndrome type B. That video, his parents hoped, might help to save 5-year-old Simon’s life.

When 11-year-old Connor Ridley heard about another boy named Connor who wants to get into a potentially life-changing clinical trial, he decided to help. The other boy, Connor Dobbyn, is 13 and was diagnosed in 2019 with Sanfilippo syndrome, a neurodegenerative disease that renders the body unable to break…

From posting a photo of their child’s hand in theirs, to switching out their Facebook frame, supporters are poised to mark World Sanfilippo Awareness Day, observed each Nov. 16. The aim is to heighten awareness of Sanfilippo syndrome, a genetic disorder that leads to a form of childhood dementia,…

As part of its Innovative Research Grants Initiative, the National MPS Society has awarded $350,000 to support five projects into potential ways of better treating mucolipidoses (ML) or mucopolysaccharidosis (MPS) diseases, such as Sanfilippo syndrome (MPS III). These awards are were given as “cycle 1” of the grant initiative, according…

The Cure Sanfilippo Foundation is on track, with more than $1 million raised in a GoFundMe campaign, to support a potential gene therapy trial for Sanfilippo type C. This brings the total to date to about $4 million collected through three separate, ongoing campaigns helping to fund clinical studies…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…