#rare-diseases

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#fundraising #family-support #clinical-trials #crispr #gene-therapy #patient-advocacy #medical-research
Europe news
fromIndependent
4 weeks ago

Wexford woman in battle to secure new wheelchair - 'My daughter is trapped in the middle of a vicious circle'

Simona Demyter has a rare PDE10A gene mutation, making her the only known case in Ireland.
Medicine
fromFortune
1 month ago

The $3.4 billion lesson Big Pharma needs to learn: its shelved drugs could save millions of patients | Fortune

Thousands of shelved pharmaceutical compounds could treat rare diseases by matching them with capable partners through industry collaboration.
#rare-ireland
fromIrish Independent
1 month ago
Fundraising

'Abseiling 44 metres in Croke Park is a challenge, but we're doing it for a big cause' - brave mothers undertake charity leap for children with rare diseases

fromIrish Independent
1 month ago
Fundraising

'Abseiling 44 metres in Croke Park is a challenge, but we're doing it for a big cause' - brave mothers undertake charity leap for children with rare diseases

Fundraising
fromIrish Independent
1 month ago

'Abseiling 44 metres in Croke Park is a challenge, but we're doing it for a big cause' - brave mothers undertake charity leap for children with rare diseases

A group is fundraising for Rare Ireland, which serves 300,000 people with rare diseases and receives no government funding, relying entirely on donations and raised funds.
Fundraising
fromIrish Independent
1 month ago

'Abseiling 44 metres in Croke Park is a challenge, but we're doing it for a big cause' - brave mothers undertake charity leap for children with rare diseases

A group is fundraising for Rare Ireland, which serves 300,000 people with rare diseases and receives no government funding, relying entirely on donations and raised funds.
more#rare-ireland
Science
fromTechCrunch
2 months ago

How AI is helping solve the labor issue in treating rare diseases | TechCrunch

AI multiplies scientific productivity, automating drug discovery tasks to tackle workforce shortages and accelerate development of treatments for thousands of neglected and rare diseases.
Medicine
from24/7 Wall St.
2 months ago

3 Biotech Stocks That Could Double In 2026

Small- and mid-cap biotech stocks with strong clinical catalysts, like Denali, offer potential for large upside in 2026 amid renewed investor interest.
#crispr
more#crispr
Medicine
fromwww.theguardian.com
3 months ago

The Guardian view on gene editing: breakthroughs need a new social contract | Editorial

Few genes cause thousands of rare disorders, yet high drug-development costs and weak commercial incentives leave most genetic conditions without scalable therapies.
Public health
fromFast Company
4 months ago

Rare disease: Our $1 trillion healthcare reform opportunity

Implement universal newborn genome sequencing to diagnose rare diseases early, enable effective treatments, reduce long-term healthcare costs, and prevent avoidable child deaths.
Medicine
fromPsychology Today
4 months ago

The Psychological Toll of Living with a Rare Disease

Accurate diagnosis of rare neurodegenerative disorders like progressive supranuclear palsy reduces uncertainty, guides care, and connects patients to resources.
Science
fromWIRED
7 months ago

The Next Era of Gene Editing Will Be Disease Agnostic

A single disease-agnostic gene-editing strategy could treat many unrelated rare genetic diseases, addressing the impracticality of developing bespoke therapies for thousands of conditions.
Medicine
fromFast Company
7 months ago

Here's why genomic sequencing should be a standard of care

Genomic sequencing must become standard of care to accelerate diagnosis and treatment access for pediatric rare disease patients, shortening diagnostic odysseys and saving lives.
Public health
fromwww.independent.co.uk
8 months 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
8 months 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
8 months 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
Fundraising
fromwww.newsshopper.co.uk
9 months 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
10 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
11 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
11 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
10 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
11 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
OMG science
fromwww.independent.co.uk
11 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.
OMG science
fromNature
1 year 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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