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New form of muscular dystrophy discovered

New form of muscular dystrophy discovered

Researchers have discovered a new form of muscular dystrophy related to changes in the JAG2 gene. A new study led by the Department of Clinical...
Novel CRISPR tool allows unprecedented control of epigenetic inheritance

Novel CRISPR tool allows unprecedented control of epigenetic inheritance

Scientists have developed a novel CRISPR technology tool that allows for superior control of epigenetic inheritance for up to 450 generations, paving the way...
Researchers identify rare genetic syndrome caused by gene mutations

Researchers identify rare genetic syndrome caused by gene mutations

A new study has identified variation in the gene SATB1 which has been shown to cause a rare genetic syndrome. Advances in DNA sequencing have...
Breakthrough to target care for deadly hypertrophic cardiomyopathy

Breakthrough to target care for deadly hypertrophic cardiomyopathy

Researchers have made a groundbreaking discovery of new genetic faults in patients living with the deadly heart condition hypertrophic cardiomyopathy (HCM) which could help...

The Chinese University of Hong Kong: Osteoporosis care and control

The Chinese University of Hong Kong Jockey Club Centre for Osteoporosis Care and Control (JOCOC) aims to promote healthier bones for all and an...
Austrian MPS Society’s Therapy Week

Austrian MPS Society’s Therapy Week

Mucopolysaccharidosis are a group of rare, inherited, and incurable diseases, and MPS Society Austria aims to help people and families living with these diseases...
Potential new target for treating endometriosis discovered

Potential new target for treating endometriosis discovered

Researchers have identified a potential target to treat a painful and invasive form of endometriosis. Endometriosis, particularly the kind associated with the ARID1A mutation, can...
Early access to medicine for hereditary angioedema patients

Early access to medicine for hereditary angioedema patients

The UK’s Medicines and Healthcare Products Regulatory Agency (MHRA) has granted a positive scientific opinion to the medicine berotralstat for hereditary angioedema patients through...
Is CRISPR gene therapy for rare Angelman Syndrome on the horizon?

Is CRISPR gene therapy for rare Angelman Syndrome on the horizon?

For the first time, scientists have shown how gene editing techniques could be used as therapy for the rare neurodevelopmental disorder – Angelman syndrome. Babies...
New study links 28 genes to rare developmental disorders

New study links 28 genes to rare developmental disorders

A new study has linked 28 genes to rare developmental disorders and has estimated another 1,000 genes linked to these disorders are yet to...
Scientists link fatal COVID-19 reactions to autoimmunity and faulty genes

Scientists link fatal COVID-19 reactions to autoimmunity and faulty genes

Scientists have linked fatal reactions to COVID-19 in young people to rare gene variants and autoimmunity. New research has shown that 10% of the young...
UK poises to take global lead in genomics with new strategy

UK poises to take global lead in genomics with new strategy

A new landmark strategy has been launched that aims to secure the UK as a future global leader in genomics. The new National Genomic Healthcare...
Understanding rare autoinflammatory conditions during awareness month

Understanding rare autoinflammatory conditions during awareness month

September marks World Autoinflammatory Awareness Month – a time for organisations, patients, carers, and families to raise the profile of these rare and complex...
First at-home treatment for spinal muscular atrophy approved by FDA

First at-home treatment for spinal muscular atrophy approved by FDA

The first at-home, orally administered treatment for spinal muscular atrophy has been approved by the US Food and Drug Administration (FDA). The treatment – Evrysdi...
Molecular cause explains a genetic form of microcephaly

Molecular cause explains a genetic form of microcephaly

Scientists have helped to explain a genetic form of microcephaly by uncovering a molecular cause for the rare disease. Microcephaly is a condition where babies'...
Genome sequencing: novel genetic cause of rare diseases discovered

Genome sequencing: novel genetic cause of rare diseases discovered

A new study has discovered novel genetic causes of rare diseases which researchers believe could lead to the improvement of diagnosis and patient care. A...
Discover how a microRNA ‘nose cocktail’ could help fight COVID-19

Discover how a microRNA ‘nose cocktail’ could help fight COVID-19

A new report has shown how microRNA that should attack COVID-19 is diminished with chronic conditions and age, and suggests that a ‘nose cocktail’...
AI precision medicine mining finds 13 human COVID-19 risk genes

AI precision medicine mining finds 13 human COVID-19 risk genes

Data scientists have used an AI enabled precision medicine platform to identify high risk genes for COVID-19, along with drug candidates for increasing survival...
Understanding Alzheimer’s disease using gene-network tools

Understanding Alzheimer’s disease using gene-network tools

New research has found a novel way to identify genes that are implicated in the neurodegenerative disorder known as Alzheimer's disease using gene-network tools. Using...
Gene therapy may hold key to treating life-threatening Danon disease

Gene therapy may hold key to treating life-threatening Danon disease

A new study has found that  gene therapy improved cardiac, muscle and liver function in Danon disease mouse models. Danon disease is a very rare,...

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