http://canpku.org/ Articles from Canadian PKU and Allied Disorders Mon, 04 May 2026 00:00:00 +0000 en http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=26 Mon, 04 May 2026 00:00:00 +0000 CARES - Research/Recherche http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=26 Satellite Bio announced that the FDA has granted Rare Pediatric Disease designation to SB-101, an investigational off-the-shelf liver therapy for urea cycle disorders. The company describes SB-101 as a first-in-class liver cell therapy intended for infants with severe early-onset UCDs. Satellite Bio plans to begin a Phase 1/2 clinical trial in 2026. This is not an approval, but it signals regulatory recognition of the serious pediatric need and may support future development incentives. http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=25 Thu, 15 Jan 2026 00:00:00 +0000 From the web CARES - Research/Recherche http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=25 Researchers from Qatar University (QU) published a study examining a specific genetic mutation called T236N in the CBS (cystathionine beta-synthase) enzyme, which is responsible for breaking down homocysteine in the body. Key Findings The study showed that the T236N mutation dramatically changes how the CBS enzyme functions, causing it to malfunction. When CBS does not work properly, homocysteine builds up in the body, leading to classical homocystinuria (HCU). Elevated homocysteine can contribute to: Vision problems Blood clots Bone abnormalities Other systemic complications http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=19 Fri, 09 Jan 2026 00:00:00 +0000 From the web CARES - Research/Recherche http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=19 Aurora Therapeutics, founded by CRISPR pioneers Jennifer Doudna and Fyodor Urnov, has officially launched to transform personalized gene editing into a scalable approach for treating rare genetic diseases. Backed by Menlo Ventures with $16 million in seed funding, Aurora combines modular gene editors, AI-driven guide design, and innovative regulatory strategies to develop therapies that can address multiple mutations in parallel. The company’s first focus is phenylketonuria (PKU), aiming to provide durable, population-scale treatments for patients with rare mutations. Aurora’s leadership team brings extensive experience in rare disease drug development, while its model leverages emerging regulatory frameworks to make personalized therapies economically and operationally viable. http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=23 Mon, 10 Nov 2025 00:00:00 +0000 Tristan Audet CARES - Research/Recherche http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=23 http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=24 Mon, 10 Nov 2025 00:00:00 +0000 Tristan Audet CARES - Research/Recherche http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=24 http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=18 Sat, 08 Nov 2025 00:00:00 +0000 Tristan Audet CARES - Research/Recherche http://canpku.org/index.cfm?fuseaction=Feature.showFeature&featureID=18