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…
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A broad range of diagnostic tools are available for diagnosing AADC deficiency and similar conditions. A recent review paper discusses many of these, highlighting the benefits and pitfalls of those available, and giving a view toward how new diagnostic methods may be applied in the future. The paper, “…
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,…
Aromatic L-amino acid decarboxylase (AADC), the enzyme deficient in patients with AADC deficiency, also is involved in the process of viral infections, a new study suggests. The work sheds light on AADC functions outside the brain and suggests that AADC may have anti-viral effects, opening new possibilities in…
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…
Early clinical trials of a gene therapy for aromatic amino acid decarboxylase (AADC) deficiency have yielded encouraging results for its safety and efficacy, a study highlights. But researchers call attention to the importance of a timely diagnosis for treatment success, as only early interventions could fully prevent long-term…
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…
A genetic variant of DDC, the gene encoding L-aromatic amino acid decarboxylase (AADC), contributes to worse somatic symptoms due to low levels of serotonin — a neurotransmitter that contributes to well-being and happiness — in circulation, new research suggests. The study, “A functional substitution…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
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