News

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

Impassioned videos, including a new one about a 12-year-old who has Sanfilippo syndrome and his parents’ battle to save him, have raised more than $400,000 toward an unprecedented clinical study that could give the boy a chance at survival. The hope is that the videos will attract $3 million for…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Sanfilippo syndrome’s characteristic buildup — to toxic levels — of the complex sugar molecule heparan sulfate appears to affect the production of aldosterone, a hormone that controls blood pressure, leading to serious complications, researchers report. They detail what is likely the first known case of…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

For nearly two years, an Ohio couple shared the heartbreaking story of their young son’s diagnosis with Sanfilippo syndrome, seeking to raise awareness about the rare genetic disease they had never heard of until it affected their own child. Then some friends got involved, one thing led to another,…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

The Cure Sanfilippo Foundation will be among those presenting posters at the WORLDSymposium 2021 conference on lysosomal storage disorders such as Sanfilippo syndrome, held virtually Feb. 8–12. “This is the conference where most of the scientists and researchers in the field of lysosomal storage diseases come together to…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…