Doctors Genetic Disease Genetics Research 
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.
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.
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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.
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. . It can also permit targeted screening of known disease complications and access to drug studies. Context
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.
The Pharma Data
DECEMBER 3, 2020
Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. The disease is classified as a developmental and epileptic encephalopathy due to the developmental delays and cognitive impairment associated with the disease.
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.
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