Foto: Colourbox

Bioinformaticians map new hereditary disease

Friday 02 Nov 18
DTU has helped identify a previously overlooked syndrome associated with heart problems. The discovery was recently published in the prestigious New England Journal of Medicine.

A new hereditary syndrome within heart arrhythmia has been discovered by Danish and Dutch researchers from DTU Bioinformatics, Rigshospitalet in Copenhagen, and University of Copenhagen among others. The study has just been published in New England Journal of Medicine.

The syndrome was first observed in a Danish family and later also found in four other families. The five families have all been diagnosed with abnormal heart rhythm observed in electrocardiograms. Common to the families is that they have all experienced issues relating to heart rate frequency, and in some cases, the disease has caused sudden death.

In order to identify the syndrome, Associate Professor José MG Izarzugaza and Professor Søren Brunak of DTU Bioinformatics and University of Copenhagen have analysed the families’ genomic data to determine the structure of their genetic material. They have done this with the help of one of the world’s largest supercomputers, Computerome, which is located at DTU.

“Usually, we explore the families’ genes and look for mutations common to the families, which are not present in the general population,” explains José MG Izarzugaza, who heads the group ‘Integrative Systems Biology’.

“In this project, we have examined whether mutations which are already known for causing heart disease were present in the families. However, we didn’t find anything that could explain the disease. We can therefore confirm that it’s a new syndrome.”

DNA profile
In the project, DTU researchers draw on many years of experience in mapping the Danish reference genome. Here, the Danish Reference Genome, 50 Danish families comprising a mother, father, and child have voluntarily donated blood to the researchers. The reference genome reveals detailed knowledge about genetic variations and deviations specific to the Danish population. Even though the reference genome is specific to the Danish population, the knowledge is of international interest, as it may promote the development of personalized medicine.

Like the reference genome, the five families’ genomes can be used to help other patients with similar symptoms in the future. Because the disease is easily overlooked, which also means that the researchers do not know how many people suffer from the disease and how many have been given the wrong diagnosis.

Strengthening efforts in personalized medicine

“Once we know the mutations, we can use them in future screenings. This means that by mapping a patient’s genes, we can determine whether the person is predisposed for developing the newly discovered heart disease. That is, we know of the predisposition to the disease even before the patient goes to the doctor with any symptoms. Our next step is to figure out how to treat patients with this syndrome,” says José MG Izarzugaza.

This is the first time he is involved in the discovery of a new disease: “We can tell that there’s a great interest in our work, and we’re happy to be part of describing a new syndrome. It helps us strengthen our efforts within personalized medicine—both nationally and internationally.”

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