Mary Chapman, features writer —

When your child is diagnosed with a rare genetic disorder such as Sanfilippo syndrome, it can be difficult to effectively express concerns to physicians. You may be overwhelmed by the sheer breadth of symptoms and feel that you need more information, but you aren’t sure how to ask.

If your child has Sanfilippo syndrome or mucolipidosis (ML), it is very important that you register them with the Connect MPS Patient Registry. Among other things, your information ultimately could help scientists develop new treatments for lysosomal storage diseases. The registry Launched in 2016, the…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. 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…

Lysogene has established a scientific advisory board (SAB) to further explore gene therapy as a treatment for central nervous system (CNS) disorders such as Sanfilippo syndrome. Comprised of global experts in gene therapy discovery and development, the four-member SAB will provide the company with scientific expertise and…

Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have enhanced their gene therapy collaboration to pursue treatments for lysosomal disorders such as Sanfilippo syndrome. The partnership has been expanded to include a next-generation program in Sanfilippo type A and B.

Siblings of terminally ill children need more support to deal with loss, said the founder of a support website who presented at the 15th Annual WorldSymposium for lysosomal disorders, which includes Sanfilippo syndrome. When a child dies from an illness, “the loss is rarely discussed, and siblings are often overlooked,”…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

They had a son they adored, and now Cara and Glenn O’Neill longed for a girl. After a couple of miscarriages, they were overjoyed at the birth of Eliza. But 3 1/2 years later, their daughter was diagnosed with Sanfilippo syndrome. After establishing a foundation and raising more than…