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Alzheimer’s disease affects the central nervous system and is most common among elderly people. It is a progressive disease in which brain cells degenerate until eventually the disease leads to the patient’s death.  The main symptoms are cognitive decline and memory loss. As the disease progresses, more brain functions become impaired, until patients in the […]

Ataxia telangiectasia syndrome, also known as Louis-Bar syndrome or AT, is an inherited disorder with an autosomal recessive inheritance pattern. This means that for a child to inherit this condition, both parents must pass down a copy of the relevant gene mutation. Therefore, when both parents are carriers, the chances of their child to develop […]

Omphalocele is a birth defect that affects the abdominal wall. This congenital abnormality causes the abdominal organs (such as the bowel and liver) to stick outside of the abdomen. This defect is usually detected during prenatal screening tests, such as an ultrasound test. In some cases, only a small portion of the intestine sticks out […]

Spinal Muscular Atrophy (SMA) is a severe disease with a prevalence of 1 in 6,000-10,000 births. This disease has an autosomal recessive inheritance pattern. This means that a child must inherit a mutated copy of the relevant gene from each of their parents to develop this condition. However, in rare cases (less than 5 percent […]

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Hemochromatosis

Hemochromatosis (sometimes known as “iron overload”) is a condition

Hemophilia

Hemophilia is a genetic disorder in which the blood

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