Harvard Medical School

New Artificial Intelligence Model Could Speed Rare Disease Diagnosis

A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...
Good News Network

Boy with Rare Genetic Disorder Amazes Doctors After World-First Gene Therapy

The first child in history has successfully been treated with a new genetic therapy for an ultra-rare developmental defect ...

3-Year-Old Boy with Rare Condition Amazes Doctors by Becoming World's First Gene Therapy Patient

Oliver Chu was born with a rare genetic condition called Hunter syndrome that impacts physical and mental development. The ...
Smithsonian Magazine on MSN

This Toddler Was the First Person to Receive a Test Treatment for a Rare Genetic Disorder. Nine Months Later, His Progress Is Inspiring Hope

Oliver Chu is one of five kids participating in a clinical trial investigating a gene therapy for Hunter syndrome, a disorder with symptoms akin to childhood dementia that limits life expectancy ...

New Gene-Editing Strategy Could Help Development of Treatments for Rare Diseases

Instead of requiring personalized gene edits for each patient, the new approach could create a standardized method to use for ...
The University of Manchester

New hope for children with devastating rare genetic disorder, thanks to world-first research in Manchester

The parents of a three-year-old boy born with a devastating, life-limiting genetic condition say they are now excited for his future after he received a revolutionary stem cell gene therapy treatment ...

A rare respiratory disease may be more prevalent in Quebec

A study led by the Research Institute of the McGill University Health Center (The Institute) has identified a rare genetic ...
GEN

Genetic Reanalysis Provides New Rare Disease Diagnoses

More than 500 European patients with previously undiagnosed rare disorders received a genetic diagnosis through research carried out by an extensive European collaboration, the Solve-Rare Diseases ...

Hampton child with rare genetic disorder could help autism research

It hides behind symptoms of autism, a silent syndrome, and only a few dozen people in the world are known to have it, but ...

Did Adolf Hitler Really Have A Micropenis? Rare Genetic Disorder Kallmann Syndrome Explained

Kallmann Syndrome is a rare genetic disorder that causes delayed puberty and a poor sense of smell. New DNA findings suggest ...
AOL

What is Angelman syndrome? The rare genetic condition affecting Colin Farrell’s son

Actor Colin Farrell has opened up about the difficult decision to move his son James, who has Angelman syndrome, into a long-term care facility. In an interview this week the actor, 48, revealed he ...

Adolf Hitler Had a Rare Genetic Sexual Disorder, According to DNA Analysis

Adolf Hitler had a rare genetic sexual disorder, according to new DNA research. The Nazi dictator had Kallmann syndrome, ...