University of Helsinki posted on Facebook

Genetic risk factors underlie both severe intellectual disability and milder disorders of intellectual development, a study indicates. However, the factors vary by the severity of intellectual disability. Milder disorders primarily originate in the combined effect of several genetic loci, whereas individual gene defects are more common in cases of severe developmental disability.

University of Helsinki posted on Facebook

A study identified several new genetic variants associated with plasma levels of lipid species and cardiovascular disease risk in humans.

University of Helsinki posted on Facebook

Irma Järvelä was the first to identify the genetic background of lactose intolerance. She also studies the genetic foundation of musical ability. Her primary interest, however, are serious brain disorders. Why? “Some have asked me bluntly what's the point of studying incurable diseases found in such a small portion of the population,” she says. “Research is all for the good – all findings lead to diagnostics, or finding the cause of a child’s condition.” It’s also about coping in the society – having a diagnosis helps the disabled person in getting support from the authorities.

University of Helsinki posted on Facebook

Researchers have developed a new data analysis method for non-invasive prenatal genetic screening. The method uses high-coverage sequencing data from targeted genomic regions to detect fetal trisomies. It uses the mother’s blood sample in the first trimester of pregnancy.

University of Helsinki posted on Facebook

Alexandru Tomescu, a researcher of computer science who hikes as a hobby, was frustrated by the absence of a well-functioning routing application that would combine the reliability of a printed hiking map and the interactive aspects of services such as Google Maps. While developing one himself, he noticed that algorithms that assemble genetic data are also suited to creating hiking maps.

University of Helsinki posted on Facebook

Canine genetic research has already helped physicians in diagnosing rare human diseases. The next step will be to investigate the causes of canine behavioural disorders.

University of Helsinki posted on Facebook

Our understanding of the genetics of cancer is constantly increasing. At the same time, we are accumulating more information, which will allow for the development of more effective treatments. These four breakthroughs were achieved by the University of Helsinki’s cancer researchers during the past year.

University of Helsinki posted on Facebook

The DNA repair mechanism discovered by recent Nobel laureate Paul Modrich is already in use at the University of Helsinki. Minna Nyström, professor in epigenetics and genetics at the Faculty of Biological and Environmental Sciences, used it as the basis for a diagnostic test, patented it, and is now encouraging other researchers to embrace entrepreneurship. "I enjoy mentoring fledgling research entrepreneurs, since I believe that someone like me who learned everything the hard way can help those who are coming up next," Nyström says.

University of Helsinki posted on Facebook

Finland is a unique environment for a researcher of genetics, and that's why Mark Daly, a Harvard professor and man of more than 130,000 citations, is now working at the University of Helsinki. – The research opportunities are exceptional. My goal is to turn FIMM into a research centre that could attract the best researchers and students of biology from around Europe, Daly says.

University of Helsinki posted on Facebook

Migraine is one of the most common brain disorders worldwide. An accumulation of many independent genetic risk variants is the reason why migraine tends to run in families. The genetic burden was shown to be greater in patients that experience aura symptoms during attacks or have an early age of onset of migraine.