Gaucher Disease

Gaucher disease is an autosomal recessive lysosomal storage disorder which arises from a deficiency of a lysosomal enzyme called glucocerebrosidase.1,2…

The factor revolution

World Haemophilia Day has been celebrated on 17 April for the past 30 years. A recent study by researchers at…

Limitations of DIY genetic testing

The Southern African Society for Human Genetics (SASHG) suggests caution when using direct-to-consumer (DTC) or do-it-yourself genetic testing. Interpretation of…

Future reproduction babies

In November last year, Prof He Jiankui from the Southern University of Science and Technology in Shenzhen (China) announced that…

A brave new world of genetic diagnosis and medicine

Just over sixty years ago James Watson, Francis Crick and Rosalind Franklin unravelled the mysteries of our genetic code through…

Personalise diet, fertility and medication with genetic testing

Understanding your DNA means better healthcare, minimising risk and knowing what the future holds.

Same same, but different

Genetic profiling approach will enable medical professionals to quickly find the best combination of ARVs for the patient and avoid…

Genetics… the future of healthcare and medicine

Essentially, genetic testing and screening is used as a tool to detect the gene variants associated with a specific disease…

Polygenic risk scores can identify patients who will benefit most from statin therapy

Atherosclerotic coronary artery disease is responsible for millions of deaths worldwide on a yearly basis. Statin therapy reduces the risk…