DRWF Research Manager Dr Eleanor Kennedy reports from the American Diabetes Association 79th Scientific Sessions in San Francisco, USA.
Day 3 of the ADA conference kicked off with an address from the President, Medicine and Science, at the American Diabetes Association, Professor Louis Philipson from the University of Chicago.
Professor Philipson talked about what is now called precision medicine but many of us will remember this in its previous incarnation as tailored or personalised medicine – the holy grail of research to give all of us treatments or medicine that are specifically targeted to us as individuals.
This concept has been overtaken by the term precision medicine meaning that, although we cannot expect something specifically for us, we can, perhaps, expect a stratification of the population into much smaller groups who all react in a certain way to a given treatment or intervention.
The best known examples of precision medicine sit in the world of monogenic diabetes. These are cases where, unlike the majority of cases of type 1 or type 2 diabetes which are known to have a polygenic undercurrent – that is to say one that relies on coding alterations in many different genes – these are caused by just one mutation in one gene.
These discoveries have dramatically changed the lives of people with these mutations. Often when a young child is diagnosed with diabetes, the presenting age tends to encourage a diagnosis of type 1 diabetes.
However, genetic analysis based on the child’s response to insulin, may show that they have, in fact, a rarer, monogenic form of the condition which means that they are better treated on an oral anti-diabetic drug rather than with insulin meaning that this patient can come off insulin injections and just have to take a tablet.
This kind of precision medicine has not just arrived on our doorsteps overnight – this has taken years of painstaking research.
Although work on animal models has its place in scientific research, human research is needed to address the best approaches to precision medicine.
Professor Philipson stressed that this must be based on the sharing of large data sets and electronic medical records and, importantly, it must take into account cost-effectiveness, quality of life and patient acceptance.
Monogenic diabetes is a fabulous example of such research. It’s highly specific, it’s cost-effective and it’s revolutionary to patients.
From there, we are treated to a masterclass in how to devote a long and productive career to science and medicine and how to deliver it, succinctly, self-deprecatingly and with the great sense of humour that I have come to expect from Professor Sir Steve O’Rahilly.
Professor O’Rahilly’s research has really focussed on the genetic outliers in diabetes and metabolism and, from a precision medicine viewpoint, he has found rare genetic variants that his team has been able to sequence the mutation from and, often, find a treatment for.
Leptin is a hormone known to indicate satiety in people. In children with mutations in the gene coding for leptin, there is no signal essentially to stop eating and these children are, therefore, morbidly obese.
By ascertaining that this mutation meant that they didn’t actually produce any functioning leptin at all, Professor O’Rahilly and his team could give leptin injections to these patients and watch as their weight fell back to within normal ranges for their ages. He offered us many insights into this kind of research and into precision medicine and is rewarded with a richly deserved standing ovation.
My last port of call was to find out what is happening in the world of peripheral neuropathy and diabetic foot disease.
Wound healing is at the forefront of this session and we learn that, from a historical point of view the ancient Incans used to treat wounds with a mixture of bird eggs and feathers.
The Egyptians trusted in rotten bread and the Greeks in minerals and plant extracts.
In fact, it was not until the 17th century that bandages soaked in hot water and cauterisation were introduced.
Now we have an array of techniques available including biological ones that rely on leeches and maggots to help to debride the infected area to enzymatic and mechanical ones like hydrotherapy.
This is a fascinating exploration of how far diabetes-related foot debridement has come and continues to advance. As I wander back to my hotel in the warm, Californian sunset, I am delighted that the results of research can offer us such innovative and effective ways to manage foot wounds so that patients no longer have to put their faith in bird eggs and rotten bread!
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