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Genetic Disorders

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Patau Syndrome: Understanding a Rare Genetic Disorder

Patau Syndrome, also known as Trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13 in some or all of the body’s cells. This condition leads to severe intellectual disability and physical abnormalities, including heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers or toes, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), and weak muscle tone (hypotonia).

Understanding Osteogenesis Imperfecta

Samantha is actively involved in various organizations and campaigns dedicated to promoting disability rights and equality. She serves as an ambassador for Scope, a UK-based disability charity, and works closely with other advocacy groups to champion the rights of disabled individuals on a national and international level.

What Is Cell & Gene Therapy AI

Cell and gene therapy are revolutionary approaches to treating diseases at the molecular level. They involve the manipulation of living cells and genetic material to correct or replace damaged or diseased cells in the body.