Epilepsy and the genome
We know that epilepsy can have a genetic cause, but there is still much to discover. We explore findings from two new studies to learn more
New data diversity initiative launches
This week, we look at a transformative programme that aims to rapidly make genomic datasets more representative
Screening the healthy for monogenic variants
As the NHS moves towards a preventative healthcare strategy, will genomic screening for healthy people become more common?
Parkinson's disease: understanding the cause
In light of new research, we explore the role genes and their products can play in the onset of Parkinson’s disease
Cell-free DNA: detecting disease
We look at how cfDNA could be used to diagnose LMD – a life-threatening condition that is currently difficult to detect
Covid-19: susceptibility and the genome
An international collaboration has discovered new links between our genome and the variable onset and severity of Covid-19
Trial underway for hATTR therapy
The novel ‘one off’ treatment could change the lives of those living with the condition
Combating cancer: POLQ inhibitors
We explore a novel treatment that could help treat cancer by preventing DNA repair in tumours
Developmental disorder variants found in non-coding genome
This week, we explore new findings that link variants in the non-coding region of the genome to developmental disorders
NHS to launch Innovative Medicines Fund
We look at an initiative that could change the lives of people with rare diseases by giving them access to cutting-edge treatments
New platform to strengthen researcher-patient link
We explore how the platform will benefit its users and the steps in place to make sure it is ethical
SCID gene therapy trial publishes results
This week, we look at a significant breakthrough for the treatment of severe combined immunodeficiency