Charlie’s Journey From Diagnosis at 10 Days Old to Happy, Healthy Toddler

Charlie’s journey from diagnosis at 10 days old to happy, healthy toddler

Charlie Johnston was diagnosed with Phenylketonuria (PKU) a rare disease which can lead to brain damage, only 10 days after his birth in January…

Newborn DNA testing: A breakthrough for families affected by rare conditions

The government has announced plans for all newborns in England to undergo whole genome sequencing within the next 10 years, as part of a £650 million investment into DNA technology and personalised healthcare. This marks a significant shift in the way rare and genetic conditions are identified. And it could be life-changing for thousands of families across the UK. What is whole genome sequencing and what difference will it make? Currently, the N…

Can AI Models Predict Rare Diseases Before Symptoms Appear? - The Oxford Scientist

Rare diseases, by definition, affect a small percentage of the population. However, collectively, they impact millions of people worldwide. There are over 7,000 recognised rare diseases, many of which are genetic and appear in early childhood. According to The Lancet, they collectively affect around 300 million people worldwide. Diagnosing them can take years, even decades. Symptoms are often vague or mimic more common illnesses, leading to long…

Cure Rare Disease Expands Leadership Team to Accelerate Treatments for Ultra-Rare Conditions – Patient Worthy

Cure Rare Disease (CRD), a pioneering nonprofit biotechnology organization, has announced the addition of new scientific and strategic leaders, marking a significant step forward in its mission to develop therapies for ultra-rare and life-threatening genetic conditions. According to a recent press release covered by Business Wire, this strategic expansion is designed to bolster CRD’s innovative […]