Deep in a cave in Italy, scientists made an astonishing discovery. They found the remains of a teenager who lived 12, 000 years ago. This young person had a rare condition that affected her bones. Her arms and legs were much shorter than usual. This condition is called acromesomelic dysplasia, Marot
In a move to catch serious health issues early, the U. S. has added two rare genetic disorders to its newborn screening list. Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) are now part of the recommended screenings for newborns. This change means babies can be tested at b
EPP and XLP are rare conditions that make life hard for those who have them. These genetic disorders cause a toxic buildup in the body. This leads to pain when exposed to sunlight. People with these conditions often face a tough life. Their daily activities are greatly affected. Yet, there are few t
A young girl's health story has caught the eye of medical experts. She was born with a mix of rare conditions. These included issues with hormone production and a blockage in her rectum. Her case is unique because it involves a specific gene mutation. This gene is known as Fibroblast growth factor r
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. A
Hereditary angioedema (HAE) is a rare genetic condition. It causes frequent episodes of swelling under the skin or mucous membranes. This swelling is known as angioedema. Current treatments for HAE have their limits. They either block certain proteins in the blood or replace a missing protein. These
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 inf
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 change
Angelman syndrome is a rare genetic condition. It affects the brain and nerves. Many kids with Angelman syndrome also have autism. But how autism shows up in these kids can change over time. That's what a recent study wanted to find out. The study looked at 107 kids with Angelman syndrome. They wer
Loeys-Dietz syndrome is a rare genetic disorder that affects the body's connective tissues, making patients prone to aortic aneurysms and dissections. This condition can be life-threatening, as it was for Sara Adair. She knew the risks because her father and sister had also been diagnosed with it. D
