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

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.

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

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

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

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 ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

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.

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

Researchers at the University of Basel have developed a gene therapy that could potentially treat a rare and currently fatal ...

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.