Tuula Lönnqvist ja Pirjo Isohanni

Searching for the genes causing severe brain and muscular diseases

Tuula Lönnqvist
HUS, Lasten ja nuorten sairaudet

Under Docent of Pediatric Neurology Tuula Lönnqvist, the NEUROCHILD research group studies severe pediatric progressive brain diseases and neuromuscular diseases. The study of genetic causes and disease mechanisms aims at improving the diagnostics and treatment of the diseases.

The research group has extensive competencies in pediatric neurology as well as strong competencies in molecular genetics, particularly in ataxia, mitochondrial disease and other neurometabolic and neuromuscular diseases, such as neuropathy.

The research was launched in the 1980s in conjunction with basic researchers, such as Anu Wartiovaara, and clinical partners such as Anders Paetau.

– Our partners include nationally esteemed experts in neural pathology, physiology and radiology. We engage in translational cooperation with basic researchers at the University of Helsinki, and internationally with the MCRN (Mitochondrial Clinical Research Network) and Christopher Carroll (St George’s, University of London), Tuula Lönnqvist explains.

New disease genes identified

Pirjo Isohanni
HUS, Lasten ja nuorten sairaudet

The academic Neurogenomics project produces information on the usefulness of exome sequencing and cost-effectiveness in severe neurological diseases. The new research methods can be used to determine the order of the entire genome.

Lönnqvist explains that thanks to the new method, more and more patients with various rare diseases have already received an accurate diagnosis.

– Our goal is to use new gene technology applications to provide an accurate genetic diagnosis for as many diseases as possible and to identify their natural course. Determining the causes and the course of development of the diseases will help us to offer new types of experimental treatments and studies for patients in the future.

In international cooperation, new disease genes have already been identified, and new diagnostic methods, such as gene panels and serum markers, have already been developed.

Researchers have also examined the genetic background of one disease within the Finnish disease heritage, the infantile-onset spinocerebellar ataxia (IOSCA). IOSCA causes the early onset of difficulties related to movements, ataxia and a progressive degeneration of the peripheral nervous system and central nervous system.

– For the future of children with rare diseases, it is extremely important to diagnose the symptoms as accurately as possible. It allows them to receive individual and correct treatment and genetic counselling.

Contact details

Tuula Lönnqvist
Helsinki University Hospital Children and Adolescentstuula.lonnqvist(a)hus.fi

Pirjo Isohanni
Helsinki University Hospital Children and Adolescents