#genetic-disorders

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1 in 4 American adults suspect they have undiagnosed ADHD, new data shows

Increased 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 amount

A Queensland family is selling their home to fund their daughter Tallulah's $3 million therapy for the rare SPG56 brain disease.

Girl's life saved by pioneering rare diseases study

Pioneering genetic studies can lead to the diagnosis of rare disorders, significantly improving treatment outcomes.

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.
#angelman-syndrome
from Nature
2 months ago
OMG science

How a midwife became a neuroscientist to seek a cure for her son

Terry 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 known

Parents 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 son

Terry 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 known

Parents may initially see extreme happiness in a child, not realizing it could indicate a serious disorder like Angelman syndrome.
moreangelman-syndrome

Scientists restore brain cells impaired by a rare genetic disorder

Scientists have successfully restored brain cells impaired by Timothy syndrome using antisense oligonucleotides, offering hope for treating other genetic conditions.

How to Keep Your Teeth Strong

Certain genetic disorders and environmental factors can weaken tooth enamel.
Acidic foods and drinks can erode tooth enamel and increase the risk of cavities.

I told my high school friend we'd battle sickle cell together. But she didn't make it past 18

Sickle cell disease is a common inherited disorder in Kenya, affecting millions globally.
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