Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a spectrum of what were classically considered discrete mitochondrial DNA ...

A clinical research team from the LKS Faculty of Medicine, the University of Hong Kong (HKUMed), and international genetic researchers led a global research study using multi-omics analysis and ...

Under terms of the deal, Stoke will spearhead global development of zorevunersen, while Biogen will receive exclusive rights ...

Families of children with disabilities are worried about a lawsuit Utah has joined with 16 other states that could change or ...

Yourgene was acquired by Novacyt in September 2023, in a £16.7m deal.

Yourgene Health (part of the Novacyt group of companies), a leading international molecular diagnostics group, today announced the launch of IONA® Care+, a fully comprehensive non-invasive prenatal ...

At the opening of Morphs & Milestones’ new location at 74B Main St. in Francestown Feb. 4, a toddler reached tentatively out ...

Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

We report on five unrelated patients with de novo terminal 9q34.3 microdeletions, including one patient with some clinical features resembling Opitz trigonocephaly C syndrome (OTCS). The deletion ...

Purpose: Smith-Magenis syndrome (SMS) is a complex disorder ... On sequencing the RAI1 gene, SMS300 showed a heterozygous deletion of four bases, GCCG, starting from nucleotide 4933 that leads ...