#rare-diseases

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fromwww.independent.co.uk
1 week ago

Boy with rare genetic skin disorder can now play football after breakthrough trial

A clinical trial has offered a 12-year-old boy with RDEB the opportunity to engage in sports like football and biking.
fromsiliconvalleyjournals.com
1 week ago

Citizen Health Raises $30 Million in Series A to Launch AI Advocate for Every Patient

With rare diseases affecting over 400 million people worldwide and 95% lacking approved treatment, the urgency of Citizen's mission cannot be overstated.
fromHarvard Gazette
2 weeks ago

A setback to research that offered hope for Fibrous Dysplasia patients - Harvard Gazette

This funding was more than just a financial award-it was a crucial investment in understanding and eventually treating a devastating disease. Advancing research in FD/MAS benefits those living with this rare disease and holds great potential for broader medical applications.
Health
fromwww.newsshopper.co.uk
1 month 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
2 months 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
3 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
3 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
2 months 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
3 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
4 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.
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