According to European Union, a disease when affects fewer than 1 in 2,000 people, it is defined as “rare disease”. 72% of known rare diseases occur due to genetics. What remains are formed the result of infections (bacterial or viral), allergies, and environmental causes. The incidence of rare diseases especially in our country (Turkey) is much higher than other countries. The most common reason for this may be common consanguineous marriages. Treatment of many of these diseases caused by genetic problems is not available today. For RaDiChal 2020, three rare diseases exist such as glycogen storage disease, friedreich’s ataxia and spinal muscular atrophy.
Glycogen Storage Disease
GSD Tip 1a affects an estimated 6,000 patients worldwide, caused by a defective gene for the glucose-6-phosphatase-α (G6Pase-α) enzyme, which controls the release of sugar in the liver. Its frequency is 1/100 000 and autosomal recessive is left. G6Pase deficiency in the endoplasmic reticulum lumen, which provides hydrolysis of G6P to glucose and phosphate, causes glycogen storage disease type 1a (GDH 1a). GSD type1 is associated with abnormalities (mutations) in the G6PC gene (GSDIA) or SLC37A4 gene (GSDIB). Lipid affects carbohydrate and purine metabolism. Rare and deadly genetic liver disorder, GSD type 1a affects children from infancy to adulthood, causing dangerously low blood sugar levels and constant dependence on glucose consumption in the form of corn starch every few hours to survive. If the cornstarch dose is missed, the disease causes seizures and deaths.
Friedreich’s ataxia is an autosomal recessive disease with a wide range of symptoms, ranging from gait disturbance to speech problems, causing progressive damage to the nervous system. It can lead to heart disease and diabetes, but does not affect the ability to think. Friedreich’s ataxia is a disease caused by an abnormality in a gene called X25 located on the 9th chromosome pair. Genes are information packets that are encoded on chromosomes within cells, provide the cells with the information they need to produce the proteins they need to carry out their vital functions, and ensure that life goes on and passed through generations
Spinal Muscular Atrophy
SMA (Spinal Muscular Atrophy) is a muscle disease that affects the anterior horn motor nerve cells in the spinal cord, restricting its mobility and controlling our muscles, unable to produce the protein required for the function of the nerves. The eyesight and hearing senses of individuals with SMA are not affected by the disease. Intelligence; normal or above normal. The incidence across the world 1 / 10,000 and 1 / 6,000 in Turkey. SMA diagnosis is made as a 95% deletion diagnosis with DNA test result. The remaining 5% defect may develop as other damaging mutations. Spinal Muscular Atrophy (SMA) is caused by mutations in the SMN1 (motor neuron 1 survival) gene, which produces the SMN (motor neuron survival) protein. Three or more copies of SMN2 (motor neuron 2 survival) can cause a lighter SMA subtype