Medical Xpress

NOVEMBER 12, 2022

A toddler is thriving after doctors in the U.S. and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters.

Genetic Disease 98

Genetic Disease Doctors Doctor Genetics 98

Medical Xpress

MAY 16, 2023

That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical Medicine, University of Oslo. They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material.

In-Vitro 98

In-Vitro In-Vivo Genetic Disease Genetics 98

STAT News

NOVEMBER 9, 2022

To protect this child from the same genetic disease that killed two older siblings, treating her as soon as she was born might only work so well, the doctors knew. So they dialed back the therapeutic clock, delivering the medication to her as a fetus. Now 16 months old, Ayla appears totally healthy.

Genetic Disease 111

Genetic Disease Genetics Doctors Doctor 111

XTalks

MAY 26, 2023

Vyjuvek is also the first drug approved to treat the disease and is Krystal’s first approved product. DEB is a genetic disorder characterized by very fragile skin that rips and blisters easily even from minor friction (like rubbing or scratching) or injury, resulting in open wounds that are prone to skin infections and fibrosis.

Gene Therapy 97

Gene Therapy Gene FDA Approval Dermatology 97

pharmaphorum

MAY 6, 2021

Thalassaemia is a severe genetic disease that is characterised by significantly reduced production of functional beta-globin, a component of haemoglobin, the oxygen-carrying protein in the blood. Severely-affected patients need regular blood transfusions to maintain their haemoglobin levels.

Genetic Disease 104

Genetic Disease Protein RNA Doctor 104

pharmaphorum

JANUARY 20, 2021

Ella, 28, was diagnosed with cystic fibrosis – a rare genetic disease which causes a build-up of thick, sticky mucus in the lungs, digestive tract, and sinuses – at 18 months old. This sticky mucus gets trapped and breeds infections from bacteria I inhale,” says Ella, who adds she was “terrified” of doctors as a child.

Bacteria 113

Bacteria Bacterium DNA Doctors 113

pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genomics 102

Genomics Genome Genetics Genome Project 102