DNA and Diseases

Understanding genetic diseases was the subject for this week’s talk given by Stephen Robertson, the Curekids Professor of Paediatric Genetics at the University of Otago. Stephen said that genetics are the blueprint of human beings and need to be at the centre of medicine. As a species humans are genetically very homogeneous, we have become inbred through our ‘profligate reproduction’, and it’s important to understand any ‘variations from normal’.

Stephen gave several case studies where genetics have been vital in diagnosis and treatment. One of these was two sisters who had Ataxia and failed to thrive. After 10 years the genetic basis was discovered, they were treated with CoQ10, and made dramatic improvements.

Ground-breaking research revealed a genetic mutation which was causing Hereditary Diffuse Gastric Cancer, leading to deaths in a particular Maori whanau, of which musician Stan Walker was a member.

In one family seven baby boys died, most living only a few hours after birth. Stephen was eventually able to locate the gene that caused this and family members can now be tested to see whether they carry the mutant gene. A film documenting this is available.

Curekids is helping to fund research into genetic malformations in Aotearoa. Genomic variety is mainly found in Africa, and equity can be a challenge. Many countries around the world are studying the genetics of their indigenous people, but Aotearoa is the first to have a project which is indigenous-led. Maori are ideal for this research because they undertook the longest migrational journey on earth, and their oral history informs the understanding of researchers.

If tested, 2-3% of all citizens will have an actionable genetic factor identified, e.g for cardiovascular disease, high cholesterol, or predisposition to cancer. All of these are actionable through treatment and surveillance, but it’s also important to approach disease with optimism. We don’t necessarily understand the role of the immune system in response to cancer. Attitude and positivism are always important and may have a biological basis. As Stephen said: “Hope beats helplessness.”

Gene editing can sometimes assist in curing a disease. The first trial in the world has been carried out in Aotearoa, to treat liver disease and has proved efficacious. When asked how such a small country can make a contribution Stephen replied that we have exceptional scientists who are world-leading and outward looking, well-linked, and highly collaborative. Having a common national health identifier is helpful when running trials, and the Maori link is something we can all be proud of.

An audience member asked whether all this might be leading to immortality and Stephen replied that it gives us tools to equip our decision-making. Default paths of behaviour bring limitations, but our health may be enhanced if we understand our resilience and susceptibility factors. It’s important to have critical and imaginative engagement with the science.

There’s so much info in our genes
but we don’t know just what it means