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As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

The MPS Society will use a £195,000 (about $268,000) award from the National Lottery Community Fund to build connections and reduce feelings of isolation — largely caused by the COVID-19 pandemic — among members of the U.K.’s mucopolysaccharidosis (MPS) community. The grant, awarded from monies raised by the…

Editor’s Note: This story was updated on March 24, 2021, to include information about setbacks and safety concerns related to the AAVance trial. LYS-SAF302, Lysogene’s experimental gene therapy for Sanfilippo syndrome type A, effectively lowered the levels of three disease biomarkers — GM2, GM3, and heparan sulfate…

Genetic metabolic diseases, such as Sanfilippo syndrome, may underlie an autism spectrum disorder (ASD) diagnosis, especially when accompanied with additional symptoms, according to a case series in Turkey. The data suggested that 3.3% of ASD cases may have a metabolism-related genetic cause, which in many cases can be attenuated or…

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,…