Tuberous Sclerosis
Tuberous sclerosis (also known as TSC) is a genetic disease that affects 1 in 6,000 births. Although it is a genetic disorder, most cases are not inherited (sporadic), between 66-85% of people with this condition are born to healthy parents who are not carriers of the gene mutation that causes this disease. TSC is a […]
Tyrosinemia type 1
Tyrosinemia type 1 is a severe genetic disorder that manifests during the first six months of a patient’s life. Due to an inherited genetic defect, people with this disease cannot fully break down the amino acid tyrosine, which causes an accumulation of one of the toxic metabolites created during the breaking down of this amino […]
Multiple Sclerosis
Multiple sclerosis (also known as MS) is a chronic disease that affects the central nervous system. The disease causes damage to a fatty substance called myelin, which serves as a coating that insulates the nerve fibers and enables electrical message transmitting. The healthy function of our brain is based on transmission of electric signals, any […]
Polycystic Kidney Disease
A cyst is a small fluid filled sac. In polycystic kidney disease, a multitude of fluid filled sacs develop in the kidneys. There are two main types of this disorder that differ in their age of onset. The first type is ADPKD (autosomal dominant polycystic kidney disease), also known as adult type polycystic kidney disease. […]
Albinism
Albinism is a genetic disorder that affects pigmentation of the skin, hair, and eyes. People with albinism are more sensitive to light and are at an increased risk for developing skin cancer. In addition, some suffer from vision impairments, nystagmus (involuntary eye movements), myopia, and more. This disorder is caused by a gene mutation that […]
Bipolar Disorder
Bipolar disorder (formerly known as manic depression) is a mental health condition characterized by extreme mood changes that do not necessarily depend on environmental circumstances. People with bipolar disorder experience shifts between extremely elevated mood (mania) and low mood (depression). In some cases, several years may pass between episodes. Some people do not experience symptoms […]
