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The science behind viral gene therapy — which may hold a potential cure in a single treatment for genetic diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency — was highlighted in a recent review. The study, “Current Clinical Applications of In Vivo Gene Therapy with AAVs,” was…

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…

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,…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. 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…

An Italian panel of experts recommends using vitamin B6, dopamine agonists, and monoamine oxidase inhibitors (MAOIs) as first-line therapies for the treatment of people with rare aromatic l-amino acid decarboxylase (AADC) deficiency. Further, the expert panel called for an across-the-board, multidisciplinary approach for follow-up management of patients…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Systematic analysis of non-invasive MRI brain scans of people with aromatic l-amino acid decarboxylase (AADC) deficiency identified disease-related changes in brain structure, which may help diagnose the disorder and related conditions, a study suggests. The study, “…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…