We were unable to process your request. Please try again later. If you continue to have this issue please contact [email protected]. The differential diagnosis and workup of a suspected ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

A study published in Science reveals a cellular mechanism involved in the inheritance of genetic mutations. The study also ...

Researchers have identified new drug targets for therapies that could benefit patients with different forms of retinitis pigmentosa and other inherited retinal diseases. Using advanced proteomics ...

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.

Medically reviewed by Amelia MacIntyre, DOKey TakeawaysFatal familial insomnia is a rare genetic disorder that affects sleep ...

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 ...

Many babies enter the world with silent metabolic or genetic conditions. Today, standard newborn screening can check for some ...