For example, most p53 gene mutations are somatic, or develop during adulthood. Much less commonly, p53 mutations can be inherited, and give rise to a syndrome known as Li-Fraumeni syndrome.

Scientists with the NIH-backed SMaHT Network are mapping every DNA mutation in the human body, creating a groundbreaking ...

New research published in Molecular Neurodegeneration has revealed that mutations in three genes known to cause familial Alzheimer’s disease can predict when symptoms will begin. By analyzing ...

In a condition called hypopituitarism, there is a problem with the production and release of hormones from the pituitary gland, which can lead to many other issues like infertility, growth problems, ...

For example, steroids used to treat inflammation and immune responses can reduce neuroinflammation and prevent symptom occurrence in asymptomatic carriers of CSF1R gene mutations, according to the ...

People with diseases caused by rare mutations have fewer options and poorer prospects than other patients despite rapid recent advancements in the growing field of genetic science.

For example, a base pair of G and C, ... New method improves accuracy of DNA sequencing 1,000-fold to detect rare genetic mutations. Apr 28, 2023.

Newcastle Fertility Centre/Newcastle Hospitals NHS Foundation Trust:: Newcastle University, UKA new three-person in vitro ...

But her case is caused by a rare genetic mutation, so medications that work for 90% of people with cystic fibrosis won’t help her. The same dynamic plays out in other genetic conditions.

This photo provided by Emilys Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emilys Entourage via AP ...

For example, comprehensive data ... While there’s little chance of changing market dynamics, researchers said, one solution is to develop “mutation agnostic” gene therapies targeting all ...

For example, comprehensive data ... While there’s little chance of changing market dynamics, researchers said, one solution is to develop “mutation agnostic” gene therapies targeting all ...