Or even a child with a patch of white hair like gray hair ... new syndromes or mutations. In most cases, Waardenburg syndrome type I (WS1) and type II (WS2) are inherited as autosomal dominant traits ...

Thrombocytopenia, which is a low platelet count, can be caused by problems in the bone marrow or the immune system. The bone marrow may not make enough platelets, or the immune system may destroy ...

Currently, with the exception of individuals with genetic mutations, postmortem examination of brain tissue ... punctate or confluent regions of signal change within white matter or deep grey matter ...

In collaboration with a foundation that breeds service dogs for the visually impaired, researchers at the School of ...

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...

Affecting 1 in 500 people, hypertrophic cardiomyopathy is a condition in which the walls of the left ventricle, the heart's ...

The TP53 gene helps stop the growth of cells that have damaged DNA. An inherited TP53 mutation causes Li-Fraumeni syndrome, a disorder that ups your chances of breast cancer, leukemia, brain ...

Down syndrome is also the most common genetic cause of cognitive dysfunction. But little research has explored how gene editing tools could potentially be used to treat this condition. A new study ...

Recent advances in precision medicine have resulted in new treatments targeting genetic mutations. Notably, findings from the phase 3 CodeBreaK 300 trial have supported the use of a combination of ...

ET can develop when genetic mutations alter the function of bone marrow cells responsible for platelet production. These mutations occur in adulthood, and people are not born with them.

Over time, bone marrow stem cells, known as hematopoietic stem cells (HSCs), accumulate mutations. This leads to the emergence of clones, which are groups of blood cells with slightly different ...