#genetic-disorders

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#medical-research
SF parents
fromenglish.elpais.com
2 days ago

A Spanish therapy saves the lives of the unluckiest family in the world'

A revolutionary gene therapy has transformed the lives of children suffering from a rare genetic disorder caused by a DNA mutation.
OMG science
fromScienceDaily
4 months ago

Newly discovered mechanism in the cell's energy factory can lead to new treatment of muscle disorders

A newly discovered mechanism in muscle cells enhances energy production activated by exercise, showing promise for treating various muscle disorders.
SF parents
fromenglish.elpais.com
2 days ago

A Spanish therapy saves the lives of the unluckiest family in the world'

A revolutionary gene therapy has transformed the lives of children suffering from a rare genetic disorder caused by a DNA mutation.
OMG science
fromScienceDaily
4 months ago

Newly discovered mechanism in the cell's energy factory can lead to new treatment of muscle disorders

A newly discovered mechanism in muscle cells enhances energy production activated by exercise, showing promise for treating various muscle disorders.
more#medical-research
fromIndependent
2 weeks ago
Cancer

'I sold everything I owned, fearing I'd get the same fatal genetic disease - then came a miracle drug'

Rosaline Callaghan faced fears of hereditary ATTR amyloidosis, prompting drastic life changes, including selling possessions to travel and enjoy life.
SF parents
fromenglish.elpais.com
3 weeks ago

A journey to the place with the world's highest Fragile X syndrome rate: We are not the town of fools'

Fragile X syndrome is prevalent in Ricaurte, Colombia, disproportionately affecting families, including Patricia Trivino Rodriguez's.
fromwww.bbc.com
3 weeks ago
UK news

North Scotland among highest rates of Huntington's

Northern Scotland has one of the highest rates of Huntington's disease globally, necessitating urgent expansion of specialist services.
Medicine
fromNature
2 months ago

Rare genetic disorder treated in womb for the first time

A child treated in the womb for spinal muscular atrophy shows no signs of the condition, marking a potential breakthrough in prenatal treatment.
Graphic design
fromcyclingnews.com
8 months ago

Cardiac arrhythmia blamed for death of Italian Simone Roganti

Simone Roganti's death resulted from a cardiac arrhythmia likely linked to a genetic defect, raising concerns about health issues in young athletes.
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