Orofacial clefting is a common birth defect that affects 1 in 700 newborns, and includes cleft lip, cleft palate and cleft lip and palate, with a strong genetic component, thus being highly heritable. Researchers have identified new gene variants tied to orofacial clefting.
At the annual meeting of the American Society for Human Genetics, scientists presented three new cases of Kabuki syndrome presented with developmental delay, autism and myopia as the common traits.
Cancer therapies can eliminate specific tumors based on their genetic content. However, some cancer cells survive. How do they do it? Part of the answer lies in extrachromosomal DNA (ecDNA), an ace up the tumors’ sleeve to adapt and evade attack. Three simultaneous studies in the journal Nature lay all the cards on the table, revealing ecDNAs’ content, their origin, their inheritance, their influence in cancer, and a way to combat them.
Primary aldosteronism (PA), caused by bilateral adrenal hyperplasia or aldosteronomas, is the leading cause of endocrine hypertension, with an estimated prevalence of 10%-20% in patients in tertiary hospitals.
Investigators from New York State Office for People with Developmental Disabilities (OPWDD) and affiliated organizations have reported the discovery and preclinical characterization of a gene therapy as well as a new animal model for Ogden syndrome.
Complex genomic rearrangements (CGRs) involve large-scale genomic alterations with multiple breakpoints and are implicated in genetic diseases such as malformation syndromes, intellectual disability and neurodevelopmental disorders.
Cancer therapies can eliminate specific tumors based on their genetic content. However, some cancer cells survive. How do they do it? Part of the answer lies in extrachromosomal DNA (ecDNA), an ace up the tumors’ sleeve to adapt and evade attack. Three simultaneous studies in the journal Nature lay all the cards on the table, revealing ecDNAs’ content, their origin, their inheritance, their influence in cancer, and a way to combat them.
Retinitis pigmentosa (RP) is the most common hereditary degenerative eye disease that leads to progressive vision loss, primarily caused by retinal degeneration.
RSS
