One to two out of every 100 newborn babies are born with a Congenital Heart Defect (CHD), yet the exact cause remains unclear ...

Ty Sperle says he felt "insane shock" after learning he'd been cured of a rare genetic disease through a clinical trial using ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

Up to 15% of all couples suffer from infertility at some point in their lives. Lack of knowledge about the causes of fertility problems can lead to prolonged clinical testing and extended treatment ...

It also allowed the team to diagnose the younger of the pair with acromesomelic dysplasia, Maroteaux type (AMDM), a rare genetic disorder affecting the growth of bones. This is the earliest evidence ...

An integrin mutation impairs skin T cell migration, enabling HPV proliferation that causes warts and lesions in a rare genetic dermatological condition.

In an exciting scientific first, researchers at the Allen Institute successfully designed a new gene therapy that reversed symptoms related to SYNGAP1-related disorders (SRD) in mice. These are a ...

The addition of PacBio to the iHope network will further expand diagnostic access worldwide DAMASCUS, MD, UNITED ...

Genetic defects are exceedingly common, which is not surprising considering just how many cells make up our bodies, including our reproductive cells. While most of these defects have no or only minor ...

The Food and Drug Administration aims to evaluate treatments for rare diseases based on plausible evidence that they would work — without requiring a clinical trial first.

A study of 470,000 people reveals that the APOE gene could be behind 90% of Alzheimer's cases in the world today.