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Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

The youngest Sanfilippo syndrome type A children treated with the gene therapy candidate ABO-102 continue to have normal neurocognitive development up to 18 months after treatment in an ongoing Phase 1/2 trial, the therapy’s developer, Abeona Therapeutics, has announced. Early results also show favorable safety up to two years…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

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…

Heart problems are less common, and milder in severity, in people with Sanfilippo syndrome compared with other forms of mucopolysaccharidosis, a Taiwanese study has found. The cardiac problems identified by the researchers included valvular heart disease due to aortic valve abnormalities and valve narrowing, which worsened with…

A multidisciplinary approach tackling not only the behaviors and symptoms of children with Sanfilippo type B, but also the needs and quality of life of their caregivers, is vital to alleviate the physical and emotional burden experienced by these carers, a study says. The findings of the study, “…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Scientists have developed a new method to gather samples of cerebrospinal fluid (CSF) — the liquid that circulates in the brain and spinal cord — in mice that allows them to analyze levels of a specific biomarker for Sanfilippo syndrome. The study, “Collection of cerebrospinal fluid from murine…