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 ...

A new CRISPR approach can control genes without cutting DNA, opening a safer path for treating genetic diseases. A newly ...

Inherited platelet disorders represent a heterogeneous group of genetic conditions that affect the number, size, or function of platelets, with clinical manifestations ranging from mild mucocutaneous ...

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 ...

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.

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.

A recent study finds that certain psychiatric disorders have considerable genetic overlap. But these genes aren’t the whole ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights from the large-scale Deciphering Developmental Disorders (DDD) ...

Degenerative diseases are a group of conditions characterized by the progressive deterioration of cells, tissues and organs. While some degenerative diseases arise due to environmental factors or ...

When a child inherits a genetic condition, it often means both parents unknowingly carried genetic variations that, when combined, led to the disease. Modern genetic testing now allows families to ...