Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and gene disorders. These conditions can lead to various physical, developmental ...

Genes are segments of DNA (deoxyribonucleic acid) that are located inside every human cell. The DNA inside each cell is tightly coiled in structures called chromosomes. Each chromosome contains a ...

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, according to EURORDIS. These conditions often go undiagnosed for years due to ...

Researchers at Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) have identified a mechanism that protects the female brain from genetic diseases. Although one of the two X chromosomes is ...