Human Genomics in Global Health

WHO's Human Genetics areas of work

Genetics and common diseases

Increasing evidence indicates a genetic role in major noncommunicable diseases including cancer, diabetes, cardiovascular diseases, mental health and asthma. Genetically predisposed individuals have an inherent risk independent of environmental factors, though individuals can lead a healthy lifestyle so that other factors do not augment their risk for disease. The CHP Department and Human Genetics, in particular, are keen to examine possibilities to strengthen preventive control approaches to these major noncommunicable diseases using new genomic technologies.

In cancer and cardiovascular disease research, new loci mutations are being discovered in connection with disease development, especially pertinent in breast, colon, and prostate cancers as well as atherosclerosis and hypercholestrolemia where a significant percentage of these mutations are familial or inherited. Studies in familial diabetes estimate that approximately 10 gene mutations contribute to disease onset. This research produces hopeful data of an eventual restoration via gene therapy, possibly replacing the need for insulin injections. Alternatively, treatments can be tailored to an individual using pharmacogenetics to optimize the patient’s intake of insulin. Furthermore, some genes involved in diabetes have been linked to cardiovascular diseases. Research in mental health has been focusing on tracing positions of mutation that lead to mental disorders. The same is true for asthma, where multiple gene mutations are associated with airway hyperactivity .

Current research seeks to isolate the site of genetic mutation for many common diseases. WHO's Human Genetics is conducting a research project to critically evaluate the current ‘state of the art’ in genetics and four major noncommunicable diseases (cancer, asthma, diabetes and cardiovascular diseases). It seeks to identify research strategies that will help individuals control or prevent the onset of these diseases. Current methodology relies largely on motivating people to adopt behavioral changes leading to a healthier lifestyle, but there is a promising role for pharmacogenetics. We hope that, in the future, gene therapy coupled with early detection (prenatal testing) may allow an otherwise predisposed individual to lead a healthy life without manifesting disease symptoms. The objective of WHO's Human Genetics is to highlight the potential of genetic approaches for disease prevention and control, while simultaneously encouraging individuals to adopt behavioural changes leading to healthier lifestyles.



Cardiovascular Disease


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