Biomedical Genetics

The research of the Biomedical Genetics group includes studies of genetics and gene function of muscle diseases, cancer and celiac disease (gluten intolerance). We analyze data from clinical materials, and functional studies are done in cell culture and in the fruit fly.

Muscle in health and disease

The overall aim is to advance the understanding of the pathogenesis of inherited cardiac and skeletal muscle disorders, to define the genetic cause, mechanisms of disease development, and thereby give the basis for advances to identify new therapeutic targets.

11q genes as targets for the treatment of neuroblastoma

Neuroblastoma is a malignant childhood tumor. In aggressive neuroblastoma, it is common with chromosome 1 deletion, chromosome 17 gain, and either extra copies of the gene MYCN or chromosome 11 deletion. Still it is unknown what it is on chromosome 11 that triggers the aggressive tumor phenotype. We want to test the function of genes residing in the 11q-region, using cell culture and fruit fly-models, to see if any of the 11q-deleted genes is responsible for the aggressive neuroblastoma phenotype.

Alternative splicing of PI3K in tumors

In previous studies of chromosome 1p-deleted tumors, we discovered alternative splicing of the gene PIK3CD. This PIK3CD-variant encoded p37delta, a protein found to have tumor properties, affecting the PI3K signaling pathway. In this complex network a large amount of genes are involved, and it is known that the outcome of PI3K signaling is important for tumors. We want to examine the function of p37delta, and other proteins that arises by alternative splicing of genes encoding PI3K, using many different methods, including fruit fly-models. The hypothesis is that these proteins can be used as targets for new cancer treatment.

The impact of gluten on growth and immune function

We use fruit fly models to investigate how a diet containing gluten influence growth and expression of genes involved in the immune response in the gut. We use both control flies and genetically engineered flies that mimic patients with celiac disease. Data is compared with genetic analyzes of celiac disease patients and control subjects. The goal is to inhibit the gluten reaction in celiac patients, by addition of proteins found in too low levels in these patients.



Members of the research group

Afrouz Behboudi
Homa Tajsharghi
Katarina Ejeskär

Senior lecturers
Sandra Karlsson