After adjusting for demographic, social, environmental and clinical variables, Black race emerged as the factor with the greatest odds for high T-helper 2 inflammation in children with severe asthma, according to study results. These data were published in The Journal of…
A narrative review of twenty studies finds oral leukokeratosis is the most common oral sign of pachyonychia congenita, most often tied to KRT6A mutations, while natal teeth link to KRT17.
Japanese researchers have built a micronucleus test around T lymphocytes grown from human induced pluripotent stem cells, creating what they describe as a promising proof-of-principle alternative to the immortalized cell lines and fresh blood lymphocytes that dominate current in vitro…
Among the specific discoveries, the researchers identified a gene-disrupting variant in ANGPTL8 that is associated with lower lipid levels and lower inflammatory markers. They also found a variant in LRMDA linked to type 2 diabetes, and a signal at the alpha-globin locus…
A new review argues that Müller glia, the retina's dominant support cells, actively shape retinal disease progression and may offer fresh therapeutic targets. Subject of Research: The role of Müller glia in retinal homeostasis and neurodegenerative eye disease Article Title:…
Scientists discover the important role that aerobic glycolysis, the process where cells make lactate from glucose, plays in mammalian eye development. Although already known to be used by retinal cells for cell differentiation, lactate’s exact role in early eye morphogenesis…
Scientists at St. Jude Children’s Research Hospital identified genetic and epigenetic mechanisms driving predisposition to this childhood kidney cancer, impacting care and treatment. Memphis, Tennessee, December 18, 2023 Xiang Chen, PhD, Department of Computational Biology and Andrew Murphy, MD, Department of Surgery…
Findings of their study were published online on January 25th in the New England Journal of Medicine. Scientists do not fully understand the function of many of the genes affected by DiGeorge syndrome. Previously, researchers had identified loss of the TBX1 gene…
Listen below or download the episode. Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice. Newswise — Dr. Alina Ivaniuk: Hello everyone and welcome to another episode of the Sharp Waves podcast. My name…
Simona Gurzu, Andrei Fulop and Tivadar Bara Jr. screened more than 4,000 available studies on horseshoe kidney and selected 89 representative articles that documented the most common genetic lesions and tumor types seen in these patients. The work, published on 17 September 2026, is…
Orphan conditions, registries, gene testing, and family support networks.
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