#rare-diseases

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fromwww.newsshopper.co.uk
3 weeks ago

'My son's spine twists and crushes his organs - it's a race against time to save him'

Harley, diagnosed with a rare skeletal condition, faces severe spinal deterioration requiring urgent treatment.
#genetic-disorders
SF parents
fromwww.bbc.com
1 month 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.
US news
fromBoston.com
2 months 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
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.
more#genetic-disorders
Parenting
fromwww.bbc.com
1 month ago

'I'm going to outlive our child, there are no words'

Parents of a child with a rare, unnamed genetic condition face profound emotional challenges and seek connection with others in similar situations.
fromSilicon Canals
2 months ago

Dutch-based Azafaros raises 132M

Azafaros has been impressive in its execution with nizubaglustat poised to begin Phase 3 clinical development and the potential to significantly improve the lives of NPC and GM1/GM2 patients.
Startup companies
fromPsychology Today
3 months ago

Mental Health of the First Generation of Fanconi Anemia Adults

Rare diseases require ongoing support and research, especially as affected individuals transition into adulthood.
fromwww.independent.co.uk
3 months ago

Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

The article illustrates the impact of rare diseases on families, highlighting the emotional toll and challenges faced in accessing timely medical care.
fromNature
3 months ago

Whole-genome sequencing susses out rare diseases

Whole-genome sequencing offers a more comprehensive solution for diagnosing rare genetic diseases than traditional exome sequencing.
OMG science
fromwww.nytimes.com
4 months ago

Drugs Have Uses We Can't Imagine. He's Using A.I. to Find Them.

AI-driven treatment options can significantly impact the care of patients with rare diseases.
Persistence in seeking unconventional solutions can lead to unexpected and life-saving outcomes.
fromIrish Independent
5 months ago

Dublin girl with rare skin disease excited to go to secondary school

It's an enormous milestone in any child's life, starting secondary school, let alone for someone living with EB.
Education
Parenting
fromwww.standard.co.uk
5 months ago

Gene therapy experiment gives children 'life-changing' sight boost at London hospital

Pioneering gene therapy restores sight in young children with a rare genetic condition.
Miscellaneous
fromenglish.elpais.com
5 months ago

The second revolution in gene therapy that has cured Javier, a child with a lethal error in the X chromosome

A small sign led to diagnosis of Wiskott-Aldrich syndrome, which was overcome through groundbreaking gene therapy.
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