Fragile X syndrome – genetic testing for fragile X syndrome (FXS)
Fragile X syndrome is a genetic disorder that is the most common genetic cause of autism and intellectual disability. The disorder is also known as Martin-Bell syndrome, named after the two researchers (Julia Bell and Purdon Martin) who first detected the link between hereditary and intellectual disabilities, and discovered that the two are connected to […]
Genetic tests for GSD – Glycogen storage disease
Glycogen is a complex molecule that serves as a source of glucose in our body. Our cells need glucose to produce energy. Since cell life functions cannot be performed without accessible energy, the cells cannot function normally without glucose. Though fatty acids and proteins can fill energy needs, the most important substance in the short […]
Cat eye syndrome: a rare genetic disorder
The term “cat eye syndrome” derives from a distinct eye abnormality that appears in some people with this disorder. This trait results from an absence of eye tissue, affecting both eyes. The ocular defects can include an abnormal pupil color, defects to the middle layer of the eye, or damage to the optic nerve. The […]
Genetics of hereditary neurological disorders: research identifies genetic mutations causing neurological diseases
An Israeli – American research collaboration, published in the prestigious journal “Neuron”, shows new discoveries of genetic mutations responsible for severe neurological disorders, that have remained unclear until now. The research was conducted by leading genetics researchers from Sheba Medical Center at Tel Hashomer (Israel), and Duke University in North Carolina (USA). The aim of […]
The science behind psoriasis: genetics and psoriatic diseases
Psoriasis is an autoimmune disease. In this condition, the immune system reacts abnormally and causes skin cells to shed irregularly. Instead of regular skin cell replacement, layers of skin cells accumulate on the surface of the skin, causing plaques (or placks) – thick patches of scaly skin. While certain genes are known to be responsible […]
Genetic screening for Peutz-Jeghers syndrome
Peutz Jeghers syndrome is a genetic disorder characterized by benign tumors, known as hamartomatous polyps, in the gastrointestinal tract, and pigmentation of the mucous membranes (especially around the mouth). People with this disorder are at an increased risk of developing cancer. This is a rare disorder; its prevalence is around 1 in 100,000 individuals. The […]
