SF parentsfromenglish.elpais.com2 days agoA 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 sciencefromScienceDaily4 months agoNewly discovered mechanism in the cell's energy factory can lead to new treatment of muscle disordersA newly discovered mechanism in muscle cells enhances energy production activated by exercise, showing promise for treating various muscle disorders.
SF parentsfromenglish.elpais.com2 days agoA 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 sciencefromScienceDaily4 months agoNewly discovered mechanism in the cell's energy factory can lead to new treatment of muscle disordersA newly discovered mechanism in muscle cells enhances energy production activated by exercise, showing promise for treating various muscle disorders.
fromIndependent2 weeks agoCancer'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 parentsfromenglish.elpais.com3 weeks agoA 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.com3 weeks agoUK newsNorth Scotland among highest rates of Huntington'sNorthern Scotland has one of the highest rates of Huntington's disease globally, necessitating urgent expansion of specialist services.
MedicinefromNature2 months agoRare genetic disorder treated in womb for the first timeA child treated in the womb for spinal muscular atrophy shows no signs of the condition, marking a potential breakthrough in prenatal treatment.
Graphic designfromcyclingnews.com8 months agoCardiac arrhythmia blamed for death of Italian Simone RogantiSimone Roganti's death resulted from a cardiac arrhythmia likely linked to a genetic defect, raising concerns about health issues in young athletes.