Gene therapy may be 'one-shot stop' for rare bone disease
For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that ...
People With Super Rare Disorders And Medical Conditions Are Sharing What It Took To Get Diagnosed
7.“A few months after getting H1N1 flu, I started sleeping for very long periods of time (up to 20 hours, sometimes two days ...
Personalized therapy for rare genetic diseases: Patient-derived organoids offer new hope
Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...
GEN13d
Genetic Reanalysis Provides New Rare Disease Diagnoses
Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...
EurekAlert!6d
JAX researchers alleviate symptoms of ultra-rare genetic disease
In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches -- gene therapy ...
stocknews1d
3 Niche Healthcare Stocks Tackling Rare Diseases
The healthcare industry is set for growth due to advancements in targeted treatments and personalized care and the rapid ...
Twins with rare genetic PKAN disease back in routine while dealing with regression on muscle function
After more than a year the HSHS Hospital/Prevea Clinic closures were announced, a couple of Eau Claire County boys have ...
Long-read sequencing revolutionizes diagnosis of rare diseases
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.
The Jerusalem Post Blogs5d
Tal Zaks's Israeli startup targets rare genetic diseases
The early stage company is developing a new approach to gene editing to treat rare genetic diseases. It does this using mRNA, the technology underlying the Covid vaccines, so the fact that Zaks is ...
technologynetworks7d
Long Read Sequencing Speeds Up Rare Disease Diagnosis
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...
Ultragenyx Pharmaceutical: Advancing On Multiple Fronts
Ultragenyx Pharmaceutical is a mid-cap biotech firm with a promising pipeline and an optimistic outlook from analysts. Click ...