Rare 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.
Revealed: Why the fatal Huntington's gene takes so long to cause harmLate onset of Huntington's disease symptoms is due to accumulated genetic errors in neurons over time, particularly affecting DNA-repair mechanisms.
For kids with rare genetic disorders, customized CRISPR treatments offer hopeLucy Landman suffers from a rare genetic disorder with no current treatment; CRISPR shows promise, yet funding remains a critical hurdle for research.
Newly 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.
Girl's life saved by pioneering rare diseases studyPioneering genetic studies can lead to the diagnosis of rare disorders, significantly improving treatment outcomes.
Newly 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.
Girl's life saved by pioneering rare diseases studyPioneering genetic studies can lead to the diagnosis of rare disorders, significantly improving treatment outcomes.
1 in 4 American adults suspect they have undiagnosed ADHD, new data showsIncreased awareness of neurodivergence is leading to self-diagnosis of ADHD, but actual prevalence is much lower than perceived by adults.
Family selling dream home to fund life-saving treatment for 5-year-old daughter that will cost staggering amountA Queensland family is selling their home to fund their daughter Tallulah's $3 million therapy for the rare SPG56 brain disease.
Cardiac 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.
How a midwife became a neuroscientist to seek a cure for her sonTerry Jo Bichell became a scientist to find a cure for her son Lou, who has Angelman syndrome, after a challenging diagnosis.
Like Colin Farrell, I have a son with Angelman syndrome. What I wish I'd knownParents may initially see extreme happiness in a child, not realizing it could indicate a serious disorder like Angelman syndrome.
How a midwife became a neuroscientist to seek a cure for her sonTerry Jo Bichell became a scientist to find a cure for her son Lou, who has Angelman syndrome, after a challenging diagnosis.
Like Colin Farrell, I have a son with Angelman syndrome. What I wish I'd knownParents may initially see extreme happiness in a child, not realizing it could indicate a serious disorder like Angelman syndrome.
Scientists restore brain cells impaired by a rare genetic disorderScientists have successfully restored brain cells impaired by Timothy syndrome using antisense oligonucleotides, offering hope for treating other genetic conditions.
I told my high school friend we'd battle sickle cell together. But she didn't make it past 18Sickle cell disease is a common inherited disorder in Kenya, affecting millions globally.