Autor: Clinical genetics

The epigenetic modifier MLL4 has an unassuming name—the 4, for instance, indicates it’s just one in a family of such modifiers. But MLL4 is quite special: In a specific type of leukemia, it drives disease progression, while in solid tumors, it acts as …

Rare DNA changes are most strongly linked to cognition in early childhood, but the link fades as children age, while common DNA changes show stronger links later in childhood, a new study finds. The research was reported July 10 in Nature Human Behavio…

In a global breakthrough published in Nature Genetics, researchers have successfully mapped the cells and genes that regulate bone formation and loss at an unprecedented scale and discovered the critical role that blood vessel cells play in bone health.

New research, led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai and published in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects approximately 1 in 7,300 people, making it far more comm…

Rat disease models have played an integral role in scientific discovery and cancer research, including Nobel Prize–winning work from Charles Huggins on hormone therapy for prostate cancer in 1966. However, technical challenges in genetic engineering of…

Researchers at the University of British Columbia have identified a new form of hereditary prostate cancer that, while rare, can cause aggressive disease at a young age. The discovery paves the way for genetic testing programs that could help identify …

Irritable bowel syndrome (IBS) is a common condition that affects more than 10% of the general population, causing recurrent abdominal pain, bloating, constipation and diarrhea. IBS is considered a disorder of gut-brain interaction, and previous resear…

Hereditary primary hemochromatosis is caused by a single faulty building block in a gene. This leads to iron overload, which can have serious consequences for organs and joints. In preclinical studies, researchers have already successfully treated this…

Genespire, in collaboration with researchers at the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), announced the publication of preclinical data supporting the potential of its liver-directed immune-shielded lentiviral gene therapy approa…

Early detection and treatment of congenital cerebral ventriculomegaly (CCV)—when a fetus’s fluid-filled brain ventricles swell due to a condition called hydrocephalus—can help clinicians prevent developmental or neurological disabilities in affected in…