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.

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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.

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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

Drug Discovery World

NOVEMBER 7, 2022

In 2018, the UK’s department of health announced an NHS Genomic Medicine Service, which allows patients with rare diseases to have their entire genetic code read in the hope of providing a much-needed diagnosis. That said, some people with rare genetic diseases remain without a molecular diagnosis after their genome is analysed. . “We

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Genome Genomics Genetics Genetic Disease 52

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.

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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.

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Genetic Disease Protein RNA Doctors 83

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 Doctors 90