Explore medical genetics
The science of you. The knowledge to go further.
From DNA to everyday health, find a clearer way into a fast-moving science.
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Genetics essentials
The language of DNA, genes, chromosomes and inheritance.
MAKING SENSE OF RESULTS
Testing & counselling
Understand genetic tests, their possibilities and their limits.
THE SCIENCE IN CONTEXT
Research & discovery
Explore methods, emerging technologies and the evidence behind discovery.
PEOPLE & FAMILIES
Family & rare conditions
Pregnancy, childhood, inherited conditions and the diagnostic journey.
RISK & UNDERSTANDING
Cancer genetics
Inherited predisposition, tumour testing and the questions that connect them.
EVIDENCE INTO CARE
Clinical practice
Phenotypes, variants and genomic analysis for health professionals.
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News and studies from original sources. Follow the headline for the full context.
Taking on the RAS Challenge
C3 Glomerulopathy in Autoinflammatory-Pancytopenia Syndrome: A Case Report.
MRI Characterization of Structural Brain Abnormalities in NGLY1 Deficiency.
Innovation and practices on case-based genetics teaching focusing on hereditary spastic paraplegia.
Progress on Duchenne muscular dystrophy: from molecular mechanisms to therapeutic strategies.
Early Hematopoietic Stem Cell Transplantation in Type 1 Fucosidosis: Reversal of Central Tegmental Tract Abnormalities.
Growth hormone therapy in Turner syndrome: Do cytogenetic subtypes influence outcomes?
Could Functional Precision Medicine Be the New Precision Oncology?
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