#genetic-disorders

[ follow ]
fromwww.yourlocalguardian.co.uk
1 week ago

The Surbiton couple backing UK campaign for daughter with rare form of epilepsy

Beth has Dravet Syndrome, a severe condition characterized by frequent seizures, learning disabilities, and associated challenges, impacting her family's daily life and wellbeing.
Public health
#health
fromIndependent
2 months ago
Cancer

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

fromIndependent
2 months ago
Cancer

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

#sickle-cell-disease
Cancer
fromArs Technica
3 weeks ago

After a series of tumors, woman's odd-looking tongue explains everything

Cowden syndrome, marked by PTEN mutations, increases cancer risk and presents unique symptoms like cobblestone tongue.
#rare-diseases
SF parents
fromenglish.elpais.com
2 months 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.
US news
fromBoston.com
1 month ago

Baby is healed with world's first personalized gene-editing treatment

A custom gene-editing treatment for a rare genetic disorder may pave the way for therapies for thousands of other genetic diseases.
SF parents
fromwww.bbc.com
3 weeks ago

Parents of kids with rare gene disorder raise 70k

Mel and Charlie are raising funds to support research for a rare genetic disorder affecting their children through organized charity events.
SF parents
fromenglish.elpais.com
2 months 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.
US news
fromBoston.com
1 month ago

Baby is healed with world's first personalized gene-editing treatment

A custom gene-editing treatment for a rare genetic disorder may pave the way for therapies for thousands of other genetic diseases.
SF parents
fromwww.bbc.com
3 weeks ago

Parents of kids with rare gene disorder raise 70k

Mel and Charlie are raising funds to support research for a rare genetic disorder affecting their children through organized charity events.
#crispr
OMG science
fromHarvard Gazette
1 month ago

Science that gives humans more say over their destinies - Harvard Gazette

David Liu's gene-editing technologies demonstrate significant potential, notably in treating a severe genetic condition using CRISPR for the first time.
Parenting
fromTODAY.com
1 month ago

EXCLUSIVE: Baby KJ, Saved by New Gene Editing Therapy, Goes Home After 300 Days in Hospital

KJ Muldoon is the first patient treated with customized CRISPR gene therapy, successfully overcoming a rare genetic disorder.
OMG science
fromHarvard Gazette
1 month ago

Science that gives humans more say over their destinies - Harvard Gazette

David Liu's gene-editing technologies demonstrate significant potential, notably in treating a severe genetic condition using CRISPR for the first time.
Parenting
fromTODAY.com
1 month ago

EXCLUSIVE: Baby KJ, Saved by New Gene Editing Therapy, Goes Home After 300 Days in Hospital

KJ Muldoon is the first patient treated with customized CRISPR gene therapy, successfully overcoming a rare genetic disorder.
#gene-editing
Medicine
fromwww.theguardian.com
1 month ago

US doctors rewrite DNA of infant with severe genetic disorder in medical first

A significant medical milestone occurred as US doctors treated a baby with a custom gene-editing therapy for a severe genetic disorder.
OMG science
fromwww.npr.org
1 month ago

A promising genetic treatment tailor-made for a baby born with a rare disorder

Doctors have successfully treated a baby with a rare genetic disorder using bespoke gene-editing therapy, showing promising early results.
Medicine
fromwww.theguardian.com
1 month ago

US doctors rewrite DNA of infant with severe genetic disorder in medical first

A significant medical milestone occurred as US doctors treated a baby with a custom gene-editing therapy for a severe genetic disorder.
OMG science
fromwww.npr.org
1 month ago

A promising genetic treatment tailor-made for a baby born with a rare disorder

Doctors have successfully treated a baby with a rare genetic disorder using bespoke gene-editing therapy, showing promising early results.
Alternative medicine
fromNature
2 months ago

Storm of seizures in a baby's brain calms after trial therapy

The experimental treatment successfully reduced seizure frequency but did not enhance neurological function in infants.
SF parents
fromenglish.elpais.com
2 months 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
2 months ago

North Scotland among highest rates of Huntington's

The study revealed that northern Scotland has a Huntington's disease rate of 14.5 per 100,000, significantly higher than the global average, indicating a pressing health crisis.
UK news
Public health
fromHarvard Gazette
2 months ago

Researchers ID genetic disorders that can be treated before birth - Harvard Gazette

Timely detection of genetic disorders during pregnancy can significantly enhance treatment options and outcomes for fetuses.
Medicine
fromNature
4 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.
OMG science
fromScienceDaily
6 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.
Graphic design
fromcyclingnews.com
10 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.
[ Load more ]