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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…
Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
They aren’t even teenagers yet, but Connor Dobbyn’s closest friends are engaged in a a most serious effort — to save their’s buddy’s life. The half-dozen or so 12-year-olds have known Dobbyn since kindergarten, long before he was diagnosed with Sanfilippo syndrome, a neurodegenerative disorder that renders the body…
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in grants, totaling up…
Sanfilippo carriers likely are not at an increased risk of developing adult-onset dementia or other neurodegenerative conditions, despite earlier clinical evidence suggesting such a predisposition, a new study in mice has found. After examining the brains of laboratory mice, the investigators concluded that their mouse model “does not exhibit…
Eye Movement Desensitization and Reprocessing (EMDR) can help to ease symptoms of post-traumatic stress disorder (PTSD) in parents of children with Sanfilippo syndrome, a case study suggests. The study, “Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization…
From “getting messy” in a workshop to participating in an art class, supporters globally are marking MPS Awareness Week, observed May 10-16. May 15 is International MPS Awareness Day. Awareness and education are vital to increasing the recognition, diagnosis, understanding, and management of mucopolysaccharidosis (MPS) disorders such as Sanfilippo…
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