Rare diseases: More common than you think
In Canada, it is estimated that 1 in 40 children are born with a rare (genetically inherited) disease. One half of those children will not
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In Canada, it is estimated that 1 in 40 children are born with a rare (genetically inherited) disease. One half of those children will not
Read moreResults of a world-first Canadian pilot study on patients treated with gene therapy for Fabry disease show that the treatment is working and safe.
Read moreTo mark Rare Disease Day on February 28, the Pulmonary Fibrosis Foundation (PFF) aims to increase public understanding of pulmonary fibrosis (PF) to drive home the importance of early diagnosis to help improve the quality of life for patients.
Read moreA group of international collaborators led by researchers from the University of Pittsburgh identified new genetic associations that can predict individual susceptibility to Takayasu arteritis.
Read moreThe Pulmonary Fibrosis Foundation today announced the “Pinpoint PF” education and awareness campaign aimed at individuals with symptoms and at a higher risk for pulmonary fibrosis (PF).
Read moreAn immunology researcher in Canada has found a simple solution to prevent infections in children with lactic acidosis: get them vaccinated.
Read moreSt. Jude Children’s Research Hospital has been designated as a von Hippel-Lindau Clinical Care Center by the VHL Alliance. St. Jude is the first and only VHL Alliance-recognized Clinical Care Center dedicated solely to children.
Read moreResearchers at the Seaver Autism Center for Research and Treatment at Mount Sinai have started recruiting participants for a new clinical trial to evaluate the safety, tolerability, and efficacy of a low dose of ketamine in children diagnosed with ADNP syndrome (also known as Helsmoortel-VanDerAa syndrome), a rare neurodevelopmental disorder caused by mutations in the activity dependent neuroprotective protein (ADNP) gene.
Read moreNew NEI-supported research provides insight into the eye conditions associated with Marfan syndrome, where weakened zonule fibers cause vision problems.
Read moreScientists at Sanford Burnham Prebys Medical Discovery Institute and the Centro de Biología Molecular Severo Ochoa in Spain have created a test that determines which children with CAD deficiency—a rare metabolic disease—are likely to benefit from receiving uridine, a nutritional supplement that has dramatically improved the lives of other children with the condition. The study was published in Genetics in Medicine.
Read moreUniversity of Utah Health today announced the launch of a project with a goal of quickly and accurately detecting genetic disorders among newborns in its neonatal intensive care unit (NICU). Clinicians believe that bringing precision medicine to the NICU will transform neonatal care, leading to better diagnosis and treatment of critically ill infants with genetic-related diseases while lowering medical costs and easing the emotional and financial burden on parents and families.
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