Sanfilippo News

January 13, 2022January 13, 2022

First Zebrafish Model of Sanfilippo Offers New Research Opportunities

Sanfilippo News

In a world-first, a team of scientists in Australia has developed a model of Sanfilippo syndrome type A in zebrafish. “By adding a zebrafish model to the toolbox for Sanfilippo ... Read more

January 6, 2022January 6, 2022

Study Sounds the Benefits of Music Therapy for 3 Sanfilippo Children

Sanfilippo News

Music therapy may be beneficial for children with Sanfilippo syndrome, a small study in Spain illustrates. The study, “Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of ... Read more

December 30, 2021December 30, 2021

Prepare to Light Up Buildings for Rare Disease Day 2022

COVID-19 News, Sanfilippo News

The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the ... Read more

December 23, 2021December 23, 2021

Sanfilippo Ideal for FDA’s Accelerated Approval Pathway, Foundation Says

Sanfilippo News

The Cure Sanfilippo Foundation is encouraging the U.S. Food & Drug Administration (FDA) to consider Sanfilippo syndrome as a candidate for the agency’s accelerated approval pathway. According to a recent ... Read more

December 16, 2021December 16, 2021

$3.4M NIH Grant Will Launch Natural History Study in Type D

Sanfilippo News

A $3.4 million grant from the National Institutes of Health (NIH) will fund a new natural history study — an observational study that follows a group of people over time ... Read more

December 9, 2021December 9, 2021

Parents’ Help Simon Campaign Aims to Raise $1M to Find Cure for Son, 5

COVID-19 News, Sanfilippo News

An Austin, Texas, family is putting all their effort into raising $1 million to find a treatment for their 5-year-old son, Simon Croke, who was diagnosed with Sanfilippo syndrome type ... Read more

December 2, 2021December 2, 2021

Novel Approach Holds Potential to Target Type B Neurological Defects

Sanfilippo News

Scientists have discovered a potential novel approach to possibly correct the neurological features of Sanfilippo syndrome type B and other forms of the disease characterized by the accumulation of heparan ... Read more

November 18, 2021November 18, 2021

Boy Raises $3K for Gene Therapy Trial in Honor of Young Patient

Sanfilippo News

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 ... Read more

November 11, 2021November 11, 2021

Are You Ready for World Sanfilippo Awareness Day?

Sanfilippo News

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 ... Read more

November 4, 2021November 4, 2021

NIH Study: Cost of Treating Rare Diseases ‘Large’ Relative to Other Ills

Sanfilippo News

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than ... Read more

October 28, 2021October 28, 2021

RARE-X, Global Genes to Help Collect Rare Disease Patient Data

Sanfilippo News

In their continued efforts to improve health equity for people with rare diseases, Global Genes and RARE-X have joined forces to help advocacy groups collect patient data and make the ... Read more

October 21, 2021October 21, 2021

Genetic Sequencing Urged for Any Child With Developmental Delays

Sanfilippo News

Any child who experiences developmental delay or intellectual disability by age 18 should undergo genetic sequencing as a first- or second-line diagnostic test, according to new guidelines published by the ... Read more

October 21, 2021October 21, 2021

Global Genes, Diversity Coalition Team Up to Advance Health Equity

Sanfilippo News

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, ... Read more

October 14, 2021October 14, 2021

Rare Disease Diversity Coalition Awards $600K to Combat Disparities

COVID-19 News, Sanfilippo News

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC ... Read more

October 7, 2021October 7, 2021

‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28

Sanfilippo News

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and ... Read more