Genetic and epigenetic factors in asthma and allergy – Cilla Söderhäll's research group

Our main aim is to develop molecular diagnostic and prognostic tools for clinical use, that could discriminate between preschool wheezers that will develop chronic asthma and those that will grow out of their symptoms. Today, asthma cannot be efficiently predicted or prevented, and the current treatment in preschool children is not optimal and sometimes even without effect.

Recurrent episodes of wheeze in infants are troublesome for those affected, and a common cause of visits to the emergency room and hospitalization in this age-group. Some of these children (about 30%) will develop asthma, while many will be symptom-free before starting school. Wheeze in young children can vary considerably in terms of severity, duration, risk of relapse, contributing causes, treatability and risk for future chronic asthma. Symptoms may be caused by viral infections, allergen exposure or airway irritants.

We aim to develop molecular tools that can be used for both diagnosis and prognosis for this group of children. With specific biomarker profiles, we hope to be able to predict which of these children that will develop chronic asthma, and who will grow out of their symtoms. The analyzes are performed on a global level, as well as through targeted analayses of candidate genes and molecular networks.

In addition, our research contributes to increased understanding of the molecular contribution to asthma, and the identification of various risk factors, eg genetic factors, infections and allergy development.

Research Projects

Gene Expression in Wheezing and Asthmatic Children

The GEWAC study (Gene Expression in Wheezing and Asthmatic Children) is a prospective cohort study where 156 children (6 months – 3 y) with acute wheeze were included during an emergency visit due to ongoing wheeze. The children were recruited during 2008-2012, at Astrid Lindgren's children's hospital in Stockholm, Sweden. The cohort was followed with annual visits until the age of 7. A follow-up visit at the age of 10-13 years is now ongoing.

The children in the GEWAC study are well characterized by clinical examination, questionnaires and biological sampling. In this longitudinal cohort, we follow both the clinical course and the presence of viruses and bacteria, allergy development, such as genetic (including gene expression) and epigenetic components over time.

Preventing Atopic Dermatitis and Allergy in Children

In addition, we try to understand what impact genetic factors have on the development of eczema and food allergy, in a large Nordic intervention study called PreventADALL (Preventing Atopic Dermatitis and Allergy in Children). We believe that different genetic conditions affect the function of the barrier in the skin and airways. A more permeable barrier gives an increased risk for both eczema and food allergy, and therefore, the presence of certain genetic variants or mutations could indicate a group where prevention are of extraordinary importance.

Funding

Research funding has been provided by:

  • The Swedish Heart and Lung Foundation
  • Freemason Child House Foundation in Stockholm
  • Stockholm County Council, ALF
  • FORTE
  • Swedish Research Council – Research environment grant within clinical therapy research
  • Vårdalstiftelsen
  • Konsul Th C Berghs stiftelse
  • Ellen, Walter och Lennart Hesselmans stiftelse
  • Swedish Research Council

Staff and contact

Group leader

All members of the group

PhD students

  • Angela Hoyer, MSc in Molecular Medicine, reg 2020, main supervisor ” Genetic and epigenetic risk factors for preschool wheeze to develop to asthma, Karolinska Institutet
  • Anastasia Filiou, pediatrician, reg 2018, main supervisor, “From preschool wheeze to childhood asthma; the role of genetics and environmental factors“, Karolinska Institutet
  • Caroline-Aleksi Olsson Mägi, pediatric nurse, reg 2016, co-supervisor, ”Maternal stress and allergic disease in her offspring”, Karolinska Institutet
  • Sandra Ganrud Tedner, reg 2018, co-supervisor, “Specific IgE-profiles and allergy prediction”, Karolinska Institutet
  • Idun Holmdahl, MD, reg 2018, co-supervisor, “Långtidsuppföljning av småbarn som behövt akut sjukvård för luftvägsobstruktivitet: Vilka kommer få astma i skolåldern?”, Karolinska Institutet
  • Martin Färdig, pediatric nurse, reg 2018, co-supervisor, “The risk of developing asthma in young children by factors related to pregnancy, birth and early lung function”, Karolinska Institutet

Previous PhD students and post docs

  • Katarina Stenberg Hammar, PhD 2016, main supervisor, ”Viral wheeze and risk factors for childhood asthma- an evaluation of clinical, immunological and genetic factors”, Karolinska Institutet,
  • Christina Orsmark Pietras, PhD 2011, co-supervisor, ”Interaction and regulation of asthma susceptibility genes”, Karolinska Institutet,
  • Nathalie Acevedo, PhD 2015, co-supervisor, ”Epigenetic Mechanisms of Asthma and Allergy”, Karolinska Institutet,
  • Lovisa E Reinius, post doc, 2009-2013; co-supervisor, Karolinska Institutet, Genetics and epigenetics in asthma
Keywords:
Medical Epigenetics and Epigenomics Medical Genetics Pediatrics Respiratory Medicine and Allergy
CS
Content reviewer:
22-03-2024