A study that tracked genetic mutations through the human equivalent of about 5,000 years has demonstrated for the first time that oxidative DNA damage is a primary cause of the process of mutation - the fuel for evolution but also a leading cause of aging, cancer and other diseases.

New research sheds light on a common link between tumor formation and Costello Syndrome, an inherited developmental disorder in which patients have cardiac defects, mild mental retardation, and face-shape abnormalities.

For centuries man has had a uniquely close relationship with dogs – as a working animal, for security and, perhaps most importantly, for companionship. Now, dogs are taking on a new role – they are helping in the hunt for genetic mutations that lead to diseases in humans.

Persons infected with a mutated HIV strain, transmitted from those who have the genetic advantages to control the virus, results in improved survival according to a recent study by South African researchers. The study, published March 21st in the open-access journal PLoS Pathogens, looked for genetic mutations in the infecting virus in 24 newly infected people in Durban, South Africa.

Genetic mutations in the enzyme methylenetetrahydrofoloate reductase (MTHFR) and coagulation protein Factor V appear to have significant association with blood clots and tissue injury to the placenta and developing baby, researchers from the University of Pittsburgh’s department of obstetrics, gynecology and reproductive sciences report at the 28th annual meeting of the Society for Maternal-Fetal Medicine.

Microscopic worms used for scientific research are living longer despite cellular defects, a discovery that is shedding light on how the human body ages and how doctors could one day limit or reverse genetic mutations that cause inherited diseases, according to a new University of Colorado at Boulder study.

“Survival of the fittest” has popularly described evolution for more than a century, but a new study published in the Royal Society journal Biology Letters provides further evidence that random genetic mutations over millions of years may also play a powerful role.

How do adult stem cells protect themselves from accumulating genetic mutations that can lead to cancer?

6% of the patient population in Melbourne carries a genetic abnormality implicated in thalassemia. As well as causing blood disorders and severe mental retardation, boys with ATRX mutations have genital abnormalities.

Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases. The investigators hope to gain a clearer understanding of what goes wrong at the most basic level in these diseases that cause blindness and other disorders.

Researchers have identified novel genetic mutations that are linked to hereditary diffuse gastric cancer, with these mutations being due to both independent mutational events and common ancestry, according to a study in the June 6 issue of JAMA. This study is being released early to coincide with its presentation at the annual meeting of the American Society of Clinical Oncology.

Pseudohypoaldosteronism type 2 (PHA2), also known as Gordon syndrome, is an inherited disease that causes high blood pressure and high levels of potassium in the blood. Recent studies have identified mutations in two genes (WNK1 and WNK4) as causes of PHA2.