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 Doctor Doctors 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.

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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

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.

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Bacteria Bacterium DNA Doctor 113

XTalks

MAY 26, 2023

The regulatory nod “ushers in a whole new paradigm to treat genetic diseases” and is a major milestone for DEB patients and their families, Krystal Biotech CEO Krish Krishnan said in a statement from the company.

Gene Therapy 97

Gene Therapy Gene FDA Approval Dermatology 97

pharmaphorum

AUGUST 1, 2022

That was accompanied by improvements in measures that include time to rise, a 10 meter walk/run test, time to climb four steps, and a 100-meter walk/run test, and the prospect of a one-shot therapy that could make an impact on progression of the disease will be compelling for patients, their carers and doctors.

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Gene Therapy Gene Genetics Trials 105