Spinal muscular atrophy (SMA) is a severe, neuromuscular disease that over time leads to the inability to walk, eat, or breathe. SMA is the leading genetic cause of infant death. The condition is inherited in an autosomal recessive manner, meaning those with the...
Sickle cell disease (SCD), also called sickle cell anemia, is one of the most common and well-known genetic disorders globally. Preimplantation genetic testing (PGT), in combination with in-vitro fertilization (IVF), provides families with the opportunity to test...
The nervous system is essentially the body’s electrical wiring system, made up of the brain and a complex connection of specialized cells called neurons that transmit signals between different parts of the body. They work together to control all of the body’s...
Autosomal dominant is a pattern of inheritance. Genetic diseases are caused by gene changes, also called mutations or pathogenic variants that cause the gene not to work properly. We inherit two copies of each gene from our parents; one from our mothers and the other...
What is fragile X syndrome? Fragile X syndrome is the most common inherited cause of intellectual disability and autism. The gene that causes fragile X syndrome helps in the development of neuronal synapses. Therefore, mutations in this gene lead to delayed...
