Harvard Medical School researchers have taken another decisive step in their efforts to develop a gene therapy for people ...

Tel Aviv University researchers have made a remarkable discovery that could revolutionize our understanding of genetic mutations and their role in brain development.

The 18-year-old was born with Down syndrome, but that really didn’t change the way his parents raised him. Wes’ dad, Robert, says the genetic disorder is a limitation, cognitively and physically, but ...

BRUNSWICK COUNTY, NC (WWAY) — Many people are unfamiliar with a disorder called 22q11.2 Deletion Syndrome or 22q. Which is ...

Large amounts of sugar can damage cells, causing chronic inflammation, which can lead to obesity, heart disease, diabetes, ...

Advances in cardiac treatment and care over the past several decades have led to greatly improved long-term survival rates for children born with heart defects – including those with Down syndrome.

Study finds mosaicism in Down syndrome reduces Alzheimer's risk, providing new insights into genetic influences on cognitive ...

Each year, about 5,700 babies in the United States are born with Down Syndrome according to the Center for Disease Control ...

What is congenital central hypoventilation syndrome? Congenital central hypoventilation syndrome (CCHS), also known as “Ondine’s curse,” is a rare neurological disorder characterized by inadequate ...

Many pointed out that the rationale in this case was medically unconvincing — and indeed that safe reproductive procedures to avoid transmitting genetic diseases are already in widespread use ...

Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is also called XXY ...

Down syndrome is not a disease but a chromosomal condition, said Chief Minister Murad Ali Shah and stressed the importance of dispelling misconceptions and urged a focus on the incredible ...