Functional Genomics; Locus/gene identification; X-inactivation;  Gene Expression;  Cell culturing; iPSC; RPE differentiation; Protein localization; Primary cilium; Cell signaling (mTOR, Hedgehog, Autophagy; TGFbeta); Menkes disease; Wilson disease; PKU; Dystonia; Retinal dystrophy; Bardet Biedl disease; Usher syndrome; Pain; Tuberous sclerosis; Parkinsonism.

A major part of my research is based on molecular findings in patients with rare diseases with focus on genotype/phenotype correlations. We have investigated the effects at cellular level but also in animal models and selected group of patients. The main aim is development of new treatment strategies.

At the cellular level we have investigated the effect of mutations on gene expression, X-inactivation, mRNA splicing, read-through of premature stop codons, re-initiation of translation, cellular localization and function of the resulting protein product, and effect on signalling pathways coordinated by the primary cilium (mTOR, Hedgehog, Autophagy; TGFbeta). Recently, generation of patient specific iPSC and reprogramming into RPE cells as a source for disease models, with focus on retinal dystrophy. 

At organism level we have investigated the potential effect of copper treatment of animal models for Menkes disease. Treatment of PKU patients, and/or mice model, with large neutral amino acids or Phe free diet. Investigation of effect of BH4, on pain perception in mice models, and in patients with GCH1 mutations.

Tumor suppressor proteins TSC1 and TSC2 and regulation of Hedgehog signaling

Functional investigation of variants identified in patients with retinal dystrophy

Investigation of the Danish founder mutation c.93C>A (p.Cys31STOP) in MYO7A as a potential target for translational read-through.