Medical research

Muscle health depends on sugar superstructure

For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of ...

Genetics

Final chapter to 60-year-old blood group mystery

Researchers have solved a 60-year-old mystery by identifying a gene that can cause rejection, kidney failure and even death in some blood transfusion patients. In this study, published in Nature Genetics online 7 April, they ...

Genetics

BICRA gene provides answers to patients, doctors and scientists

Physicians and scientists are constantly on the lookout for new disease genes that can help them understand why patients have undiagnosed medical problems. Often the first clues come from genetic testing that reveals a change ...

Oncology & Cancer

Breakthrough blood test developed for brain tumors

Genetic mutations that promote the growth of the most common type of adult brain tumors can be accurately detected and monitored in blood samples using an enhanced form of liquid biopsy developed by researchers at Massachusetts ...

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Genetic testing

Genetic testing allows the genetic diagnosis of vulnerabilities to inherit diseases, and can also be used to determine a person's ancestry. Normally, every person carries two copies of every gene, one inherited from their mother, one inherited from their father. The human genome is believed to contain around 20,000 - 25,000 genes. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use, and more are being developed.

Since genetic testing may open up ethical or psychological problems, genetic testing is often accompanied by genetic counseling.

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