News
Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report
1+ day, 4+ hour ago (246+ words) Adenylosuccinate lyase deficiency (ADSLD) is an ultra-rare autosomal recessive disorder of purine metabolism. The most severe neonatal phenotype presents with profound encephalopathy from birth, hypotonia, respiratory insufficiency, and early seizures. A preterm infant was delivered at 34+0 weeks with antenatal progressive…...
How Too Much Sugar During Pregnancy Can Affect Mother and Baby
1+ day, 18+ hour ago (196+ words) Pregnancy cravings are common, but regularly consuming high amounts of sugar may have effects on both the mother's "health and the baby's development. Possible Effects on the Baby Some studies suggest that excessive intake of sugary drinks and sweetened foods…...
Ontario girl with Rett Syndrome denied access to promising gene therapy trial, parents say
1+ day, 11+ hour ago (35+ words) unpublished. ca Ontario girl with Rett Syndrome denied access to promising gene therapy trial, parents say Be the first to comment...
Raw interview reveals devastating impact of incurable disease on Jai Arrow's life - indonesiakini
1+ day, 12+ hour ago (318+ words) Jai Arrow Shares His Journey with Motor Neurone Disease Jai Arrow, a prominent figure in the National Rugby League (NRL), has opened up about his recent diagnosis with motor neurone disease. The 30-year-old South Sydney Rabbitohs forward spoke for the…...
Scientists Find Strong Genetic Link Behind Sudden Cardiac Arrest In Young People
1+ day, 13+ hour ago (336+ words) ...
EMA Accepts Otarmeni Gene Therapy for OTOF-Related Hearing Loss for Review
2+ day, 6+ hour ago (265+ words) The Hearing Review EMA Accepts Otarmeni Gene Therapy for OTOF-Related Hearing Loss for Review If approved, Regeneron's Otarmeni will be the first gene therapy for OTOF-related hearing loss in the European Union. Regeneron Pharmaceuticals announced the European Medicines Agency (EMA)…...
Epigenetics and mental health: It's not just in your head
1+ day, 21+ hour ago (978+ words) Kaya mo "yan!" (You can do it!) This is a phrase we hear often when we need encouragement. But, what if we can't actually do it? What if we're depressed or anxious and can't function? Then maybe we're a disappointment,…...
How a DNA test empowered me to take up running
2+ day, 1+ hour ago (896+ words) I didn't expect a DNA test to change how I move my body. Like most people, I was pulled in by pure curiosity. My grandfather on my mother's side, as far as I understood, was Syrian. But in 2018, a family…...
Type 1 Diabetes Mellitus in a Child With Genetically Confirmed Alstr'm Syndrome: An Unusual Autoimmune Phenotype
2+ day, 7+ hour ago (172+ words) Alstr'm syndrome (AS) is a rare autosomal recessive multisystem disorder caused by pathogenic variants in the ALMS1 gene and is classically associated with obesity, insulin resistance, and type 2 diabetes mellitus (T2 DM). We report a 9-year-and-10-month-old girl with genetically confirmed Alstr'm syndrome…...
When screening and diagnosis converge: participant interpretations of additional findings in the 100, 000 genomes project - European Journal of Human Genetics
2+ day, 19+ hour ago (1190+ words) European Journal of Human Genetics (2026) Cite this article Overview of codes and themes. Institutional ethical approval was granted by the Wales Research Ethics Committee (Reference number 21/WA/0344). Our work is guided by an ethic of care with a focus on…...