Skip to main content

Research Areas - Neurogenetics

The aim of the research is to identify genetic, epigenetic and environmental factors that predispose to the development of neuropsychiatric and metabolic disorders such as depression, anorexia, schizophrenia, malnutrition in kidney disorder and obesity.

Neuropsychiatric and Metabolic Disorders

Our aim is to identify environmental and genetic factors that predispose to the development of Neuropsychiatric and Metabolic Diseases. The diseases we are studying are bipolar disorder, schizophrenia and malnutrition especially in kidney disease. We participate in international consortia for genetic association studies on bipolar disorder and effects of lithium treatment. Lithium is the first-line treatment for bipolar disorder. Within the group, the effects of lithium are a special focus where we use clinical, epidemiological, molecular biology and genetic as well as digital analyzes to understand how this drug works. The group also works with functional studies. We are involved in method development in digital analysis of gene expression from tissue sections (digital spatial transcriptomics) and expression analysis.

Martin Schalling

Professor
Neurogenetics
Department of Molecular Medicine and Surgery (MMK), K1

Neurobiology of anorexia

The research of our team is focused on eating disorders, in particular Anorexia Nervosa. Eating disorders are serious psychiatric disorders characterized by persistent problems concerning food intake, often combined with preoccupation about body weight and shape. Currently effective pharmacological or other biological target-directed therapy are lacking, illustrated by among others the high chronicity (10-20%) and mortality of Anorexia Nervosa (10%). Approximately 1:100 young women and 1:1000 men are affected by Anorexia Nervosa some time throughout life. Almost twice as many are affected by Bulimia Nervosa. In addition, it has been estimated that 10-20% of all women display abnormal eating behavior and/or have a complicated relation to food, without being diagnosed with an eating disorder. Little is known about what causes the disorders, but it has been shown that those that are affected seem to have a hereditary sensitivity to external stimuli that can trigger the disease. In fact, 50-80% of the background of Anorexia Nervosa is attributed to genetic factors.

Food intake and self-starvation are central problems in Anorexia Nervosa. We simply do not understand how the bodies of individuals with AN are able to defend such low weights, often to the point of death. A large proportion of our research is subsequently focused on the mechanisms in the brain controlling appetite and energy balance. These mechanisms are centered to the hypothalamus of the brain, often called the feeding center of the brain. The hypothalamus receives signals about energy status from the periphery, such as circulating leptin and insulin levels, and transforms this information to an appropriate response – to eat or not to eat.

The overall goal for our group is to understand the molecular mechanisms involved in hypothalamic regulation of food intake, in particular in relation to anorexia, this in order to offer new target molecules that may assist in the development of evidence based clinical practice and promote individualized therapy of eating disorders.

Ida Nilsson

Assistant professor
Neurogenetics
Department of Molecular Medicine and Surgery (MMK), K1

Molecular Dysregulation in Mood Disorder, Psychosis and ADHD

Using clinical and population-based naturalistic cohorts and a model of depression-like behavior, we study molecular dysregulation in mood disorder, psychosis and ADHD. Our studies focus on the interlinked processes inflammation, metabolic stress and mitochondrial activity . We investigate mechanisms and markers of disease and treatment effects though genetic, epigenetic and biochemical analyses. This is performed primarily, but not exclusively, in candidate gene networks. We collaborate within large international consortia for genome-wide genetic association studies.

Catharina Lavebratt

Senior researcher
Neurogenetics
Department of Molecular Medicine and Surgery (MMK), K1

Cancergenetics

Families undergoing genetic counseling for an increased risk of cancer and where no disease gene is known are being included in our ongoing studies. We have performed many studies to rule out possible candidate genes. Families without known mutations have been recruited to our linkage and association studies. We have in total identified more than 1000 families without mutations in known genes and many of those families have been included in studies. We have ongoing studies in familial colorectal cancer and familial breast cancer and we are looking for new cancer syndromes. We also use large clinical materials for testing the hypothesis of cancer as a complex disease. Our results are implemented into clinical praxis. We have studied effects of genetic counseling and genetic testing and surveillance in cancer families and been able to demonstrate the usefulness of oncogenetic counseling and that it does not bring unwanted side effects of anxiety. We have also continued to improve the procedure of genetic cancer counseling, and to improve the procedure of genetic testing and to evaluate the surveillance program. We have also found that patients under surveillance tolerate this well and are aware of its importance.

Annika Lindblom

Professor, senior
Neurogenetics
Department of Molecular Medicine and Surgery (MMK), K1