A Travis County family is racing to raise $3 million to develop a one-of-a-kind treatment for their baby, who has an ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

Uttar Pradesh launches PGICH Hemo-GRAM 2026 to enhance diagnosis and treatment of children's blood disorders, improving care ...

Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1-related disorders—a group of disorders characterized by developmental ...

A rare genetic disorder discovered by UT Southwestern Medical Center researchers and their colleagues can cause brain damage from dangerously low blood sugar levels and liver damage in infants, along ...

Eli Lilly has expanded its genetic medicines pipeline and capabilities, agreeing to partner with Ascidian Therapeutics to develop RNA exon editors intended to treat inherited kidney diseases, through ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

A survey found that clinicians are not discussing genetic testing with 80% of patients with kidney disease who meet ...

New research suggests that physical activity may help people with a hereditary risk of heart disease.