Greek geneticist Antonarakis' interview on World Down Syndrome Day

On the occasion of World Down Syndrome Day - observed each year on March 21 - the Athens-Macedonian News Agency (ANA) on Tuesday approached the Geneva-based Greek geneticist who was instrumental in establishing a world day dedicated to raising awareness about Down Syndrome, Prof. Stylianos Antonarakis.

The interview with Prof. Antonarakis focused on research currently underway to develop a cure for Down Syndrome, which is the result of a chromosomal anomaly affecting roughly one in every 800 live births worldwide.

"The international scientific community working with Down Syndrome is mainly trying to understand the pathogenic mechanism that cause Down Syndrome symptoms; in other words, to find the genes on chromosome 21 that are linked to the syndrome and all the genome dysfunction that is associated with it. When we understand that, then we can develop various cures with greater accuracy," Prof. Antonarakis said.

Q: What have experiments and trials for a Down Syndrome treatment shown?

A: Treatments for Down Syndrome have several levels. The greatest difficulty is understanding what causes the cognitive impairment and how we can cure it. In the last five years, some pharmaceutical substances have been found that had good results on Down Syndrome mice that we created, improving their memory and their understanding of their environment. Two of these drugs have been tested on roughly 100 adults with Down Syndrome but these trials did not have very encouraging results. This was something that we expected, because these drugs were tested on people with Down Syndrome aged over 20 in 2006. We used the drugs, however, to see if they are safe and whether they produce side-effects, etc.

Q: Will these tests continue?

A: Now we want to conduct clinical trials on children. Worldwide, it is much harder to test pharmaceutical treatments on children. The idea is to treat them immediately after birth. It will take a few years to obtain permission from all the committees, however. These trials will be carried out in Europe and America in several laboratories. In my own department they are carried out in collaboration with many, many other departments around the world.

Down Syndrome, as you know, is a model for many other ailments and conditions, such as premature ageing, early-onset Alzheimer's, congenital heart disease, child leukemia and various others. For all of these, various labs are trying to understand the pathophysiology of the disease. Especially for premature ageing and Alzheimer's there are research programmes so we can find which genes on chromosome 21 and other chromosomes are linked to them. We are trying to understand the pathophysiology; it is too soon to be talking about cures.

Q: Could Down Syndrome be cured by intervening during pregnancy?

A: Today there is a blood test for pregnant women of any age that can diagnose trisomy 21 (the cause of Down Syndrome), which occurs in the first weeks of pregnancy. Following this, the pregnancy can be terminated. There is nothing in the way of treatment. Perhaps, in the future, we will be able to find some form of cure.

Prof. Antonarakis is Professor and Chairman of Genetic Medicine at the University of Geneva Medical School, and director of the iGE3 institute of Genetics and Genomics in Geneva, Switzerland. He is the President of the Human Genome Organization (since 2013), a member of the scientific council of the Swiss National Science Foundation, and chair of the Genetics panel of the European Research Council. Previously he was the President of the European Society of Human Genetics. 

He has co-authored more than 620 papers and was part of a team that succeeded in mapping the human genome and especially chromosome 21, which is responsible for Down Syndrome. He was also among those that in 2006 helped establish March 21 as World Down Syndrome Day - the date 21/3 a reference symbolising the 'trisomy of chromosome 21' that causes Down Syndrome.

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