World Autism Awareness Day was installed in 2008 by the UN to increase global awareness and acceptance of people with autism. With Gaia Novarino, IST Austria has been home to a leading autism researcher since 2014. The Italian scientist st¬udies the genetic causes and mechanisms of severe forms of autism and related neurodevelopmental disorders. To improve practical diagnostics of children suffering from autism, Novarino is currently developing a procedure to screen patients’ genomes for genetic mutations.
Autism, or autism spectrum disorder (ASD), is a neurodevelopmental disorder, very often arising at a very early age. Worldwide, autism affects an estimated 1 in 70 children. In Austria, 48,500 children suffer from some form of autism; 13,600 of these from an early age. Patients typically show difficulties with social interaction and communication as well as restricted and repetitive behavior. The underlying causes of autism are still not fully understood. Autism is thus still an immedicable disorder with no known cure.
Genetic research at IST Austria as basis for the development of autism diagnosis
It has been widely recognized that human genetics play a big role in the development of autism. Gaia Novarino, who will receive her full professorship at IST Austria on April 1, 2019, particularly focuses on the question, how and under which genetic circumstances children develop autism. “As scientist and mother of two children, I feel an incredible responsibility, yet a privilege, to work to understand how to help kids with neuropsychiatric and neurodevelopmental disorders,” says Novarino, who lives with her family in Klosterneuburg. Over the past years, she has succeeded in identifying a number of genes involved in the development of autism, epilepsy and intellectual disorders—neurodevelopmental disorders that often appear in combination and might be ascribed to similar genetic and molecular mechanisms.
Novarino advocates transition of research outcome into practice
Backed by the results from numerous previous genetic analyses, Novarino and her research group are now focusing on the analysis of the mechanisms underlying these disorders as well as the development of a procedure to facilitate the identification of mutations in patients’ genomes. Yet, Novarino’s commitment to autism treatment does not end at her lab door: She is very keen on getting hospitals and specialists to make use of her research results in practice by pushing the development of diagnostic tools and methods. Novarino: “Today, we are able to do top-notch research. Yet, what is missing, is the transition of research into practice for it to be of use to society. My aim is to establish a connection between my research and clinics to apply the results we have to patients.”
More effort needed in diagnostics, treatment & awareness rising
Worldwide, rising numbers of people with autism are facing a lack of specialists best equipped to diagnose and treat patients—especially children. Novarino thus speaks up for comprehensive efforts to improve diagnostics and treatment options. Yet, according to her, the basis for development in autism research is to raise people’s awareness—on World Autism Awareness Day and beyond: “Increased media coverage and outreach by advocacy groups has already led to a few state-of-the-art programs, for example, a new diagnosis and behavioral-training center in Sankt Pölten, Lower Austria. Programs like this are innovative and a good start to improving the situation, but they must be replicated across the country.“
The Institute of Science and Technology (IST Austria) is a PhD-granting research institution located in Klosterneuburg, 18 km from the center of Vienna, Austria. Inaugurated in 2009, the Institute is dedicated to basic research in the natural and mathematical sciences. IST Austria employs professors on a tenure-track system, postdoctoral fellows, and doctoral students. While dedicated to the principle of curiosity-driven research, the Institute owns the rights to all scientific discoveries and is committed to promote their use. The first president of IST Austria is Thomas A. Henzinger, a leading computer scientist and former professor at the University of California in Berkeley, USA, and the EPFL in Lausanne, Switzerland. The graduate school of IST Austria offers fully-funded PhD positions to highly qualified candidates with a bachelor’s or master’s degree in biology, neuroscience, mathematics, computer science, physics, and related areas. www.ist.ac.at
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