Our research
Our team focuses on using a translational research approach to understand the causes, pathophysiology, diagnosis, and to improve care of selected groups of genetic skeletal disorders. Our aims include clinical research to elucidate the phenotypic spectrum and genomic studies of the molecular causes of congenital skeletal disorders.
Genetic bone diseases are rare or ultrarare diagnoses caused by changes in genes controlling development of the skeleton. Knowledge on the various genetic changes behind rare diagnoses has increased in recent years, parallelly to the rapid development of different genome sequencing techniques, but there are still many unsolved diagnoses.
Genetic skeletal diseases affect 1-2 in 5000 children, and currently there are approximately 770 different congenital bone diseases. Each individual diagnosis is rare and knowledge of the natural course, complications, and molecular mechanisms behind them is lacking. We use combination of modern genetic techniques (short and long-read sequencing, as well as RNA-sequencing) to examine the genome and transcriptome, to identify causes of the diseases and to correlate these with clinical findings. When we identify new genetic causes of yet unsolved genetic bone disorders, we examine the molecular disease mechanisms in cells from patients and/or in animal models created with the I-Gonad CRISP/Cas9 method. The project concentrates on skeletal ciliopathies, spondylometaphyseal dysplasias, increased bone density disorders, and skeletal abnormalities that occur due to genetic mocaicism. Our research increases knowledge about the causes of congenital skeletal diseases and short stature, which in the long run will contribute to the development of new treatment methods for short stature, scoliosis and osteoporosis.