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

Drug Discovery World

NOVEMBER 7, 2022

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . Context . The study .

Genome 52

Genome Genomics Genetics Genetic Disease 52

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

Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night. Shortly after that, she started making jackknife movements. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”.

Genome 102

Genome Genomics Genetics Genome Project 102

pharmaphorum

SEPTEMBER 9, 2020

Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night. Shortly after that, she started making jackknife movements. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”.

Genome 80

Genome Genomics Genetics Genome Project 80