Genetics

Researchers map previously unknown disease in children

Two children from Europe and one from Canada, aged four, six and 10, suffer from a previously unknown disease that causes epileptic seizures, loss of magnesium and reduced intelligence. There is currently no way to treat ...

Medical research

The biomechanics of vascular aging

Cardiovascular diseases (CVD) lead to atherosclerosis and heart failure and are prevalent age-related illnesses in humans. In a new study, published in the renowned journal JCI, scientists from Roland Foisner's group at the ...

Ophthalmology

Injection improves vision in a form of childhood blindness

A new treatment for patients with a form of congenital retinal blindness has shown success in improving vision, according to results published today in Nature Medicine led by researchers at the Scheie Eye Institute in the ...

Medical research

Gene therapy for blood disorders

Gene therapy holds a lot of promise in medicine. If we could safely alter our own DNA, we might eliminate diseases our ancestors passed down to us.

Medical research

Defective DNA damage repair leads to chaos in the genome

Scientists at the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) have now found a cause for frequent catastrophic events in the genetic material of cancer cells that have only been known for a few ...

Genetics

Genetic disorder identified in children

A genetic defect affecting normal development in children has been identified by a study involving University of Queensland researcher and alumnus Professor David Coman.

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Genetic disorder

A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments. A haploid cell has only one set of chromosomes. A diploid cell has two sets of chromosomes. In human, the somatic cells are diploid, and the gametes are haploid.

Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients.[citation needed]

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