RARE GENETIC DISORDER

May 26 2025HEALTH

The Hidden Struggles of XP: A Look into Neurological Impacts

Xeroderma pigmentosum, or XP, is a rare skin condition that affects roughly one person in every million in the United States. This disorder is known for causing sensitivity to light and increasing the risk of skin cancer. However, for some individuals with XP, the challenges go beyond skin issues. About one in four people with XP experience neurological problems, par...

reading time about 1 minute
May 16 2025HEALTH

A Baby's Life Saved by Tailored Gene Therapy

A major breakthrough in medicine has occurred. For the first time, doctors have used a custom-made CRISPR-based gene therapy to treat a baby's rare and deadly genetic condition. This isn't just any condition. It's a metabolic disorder that can kill up to half of the children who have it in their infancy. The baby, named KJ, was born last summer with a severe form of ...

reading time about 2 minutes
Apr 08 2025HEALTH

Understanding Cancer Risks in Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous syndrome is a rare genetic disorder. It is part of a group of conditions known as RASopathies. These conditions are caused by mutations in genes that control cell growth and division. People with CFC face a higher chance of developing cancer. This is due to the genetic changes that cause the syndrome. Researchers have looked into how often ca...

reading time about 1 minute