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August 19, 2019August 19, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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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 ... Read more

August 8, 2019August 8, 2019

Gene Therapy ABO-102 Preserves Cognitive Development in Young Children with Sanfilippo Type A, Interim Data Show

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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 ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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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 ... Read more

August 1, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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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 ... Read more

August 1, 2019August 1, 2019

Lysogene Creates Scientific Advisory Board to Advance Gene Therapy in Sanfilippo, Other Disorders

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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 ... Read more

July 25, 2019July 25, 2019

Heart Problems Less Common, Milder in Sanfilippo Than Other MPS Forms, Taiwanese Study Finds

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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 ... Read more

July 18, 2019July 18, 2019

Study Emphasizes Needs of Caregivers of Children with Sanfilippo Type B

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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 ... Read more

July 18, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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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 ... Read more

July 11, 2019July 11, 2019

Scientists Develop Method to Gather CSF Samples in Mice to Study Sanfilippo Biomarker

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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 ... Read more

July 4, 2019July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although ... Read more

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