New thesis on Rare Metabolic Bone Diseases

What's the main focus of your thesis?

The main aim of my thesis is to identify the genetic cause of disease in patients affected by rare monogenic bone diseases using different methods. These methods include Sanger sequencing, array-comparative genomic hybridization as well as high-throughput methods, such as whole-genome sequencing.

Which are the most important results?

In my thesis we identified novel mutations in patients with skeletal fragility, high-bone mass diseases and spondylometaphyseal dysplasia, and amplified the phenotypic spectrum of these conditions. Moreover, a novel gene-disease association has been discovered in three unrelated families affected by a novel form of spondyloepimetaphsyeal dysplasia.

How can this new knowledge contribute to the improvement of people’s health?

This knowledge enables us to give a genetic diagnosis to the patients and to inform the parents about the risk of having another affected child. Moreover, knowing the genetic cause allows better management of the disease. Finally, for most of the studied conditions there are no available treatments. For this reason, understanding the pathogenesis of these diseases could eventually lead to the development of targeted therapies.

What are your future ambitions?

My future ambitions are to continue doing research in the fields of clinical genetics and rare bone diseases by pursuing a postdoc. In the next future my dream would be to work as a geneticist in a diagnostic clinic in order to apply what I have learnt (and will learn) on a daily basis and to be in close contact with patients affected by genetic conditions.

Dissertation

June 14, 2019 at 09:00 Birger & Margareta Blombäcksalen, J3:11, Bioclinicum

Thesis

Genetic causes and molecular mechanisms underlying rare metabolic bone diseases