Genetics

Hidden genetic defects contain real risks for serious diseases

For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general European population. This is ...

Genetics

Placenta is a dumping ground for genetic defects

In the first study of the genomic architecture of the human placenta, scientists at the Wellcome Sanger Institute, the University of Cambridge and their collaborators have confirmed that the normal structure of the placenta ...

Medical research

How one patient's rare mutation helped solve a mycobacterial mystery

Just because you are exposed to a pathogen does not mean you will become sick. Increasingly, scientists have shown that genetics play a central role in determining whether the pathogens that cause a wide range of disease—including ...

Genetics

A genetic patch to prevent hereditary deafness

They can hear well up to about forty years old, but then suddenly deafness strikes people with DFNA9. The cells of the inner ear can no longer reverse the damage caused by a genetic defect in their DNA. Researchers at Radboud ...

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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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