"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Sickle cell disease is a group of inherited blood disorders that affect hemoglobin, the major protein that carries oxygen in red blood cells. It's a disease tha ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

Massive Swedish study of over two million people reveals that genetic risk for mental illness often points toward ...

Right now, approximately 20 billion red blood cells are busy traveling through your blood vessels. They are delivering oxygen to all the different tissues in your body and removing carbon dioxide to ...

A Carlsbad family is sharing their son’s story after the 5-year-old was diagnosed with a rare genetic disorder and began a ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...