Baby born with cloudy eyes is one of just 23 in world with rare genetic disease
The mum and dad of a baby with a genetic disease so rare it has no name have vowed to keep fighting for him after the ...
GeneDx CEO wants genetic testing for every newborn
GeneDx CEO Katherine Stueland likes the potential of newborn testing, but she says her Stamford, Connecticut, company is ...
'Doctors say our baby won't live two months after they saw rare sign'
A baby is one of just 23 in the world diagnosed with a rare genetic disease - after doctors spotted his eyes were cloudy at ...
EurekAlert!13d
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 ...
The short and long of protein tails: How they aid membrane insertion and may impact genetic disorders
The fatty membrane surrounding every living cell is a vibrant environment where countless biological processes take place.
Ozzy Osbourne's ‘rare’ genetic diagnosis leaves him battling 'more than 40 symptoms'
Ozzy Osbourne revealed he had been hiding a secret from his fans. He had been diagnosed with Parkinson’s Disease the year ...
Gene therapy and bone marrow transplant alleviate ultra-rare genetic disease symptoms
In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches—gene therapy and ...
Rare disease patients and advocacy groups appeal to PM Modi for sustainable funding for treatment
Families of rare disease patients appeal to PM Modi and Health Minister for increased treatment funding support.
The Jerusalem Post Blogs11d
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 ...
Houston Public Media4d
Spinal stimulation restored muscles wasted by rare genetic disorder
Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal ...
TheBetterIndia4d
‘No One Should Face This’: After Losing Daughter, Dad Ensures No Rare Disease Patient Suffers Alone
Through policy framework shifts, appeals to the court for rare disease funds, and starting a centre in Bengaluru, Prasanna ...
Delay in roll out of ₹974 crore under rare diseases policy hits patients
Advocacy groups urge Health Ministry to intervene urgently in delayed funding for rare disease treatments, impacting patients ...