Outimaija Mäkitie

My research team  studies genetic defects and clinical factors underlying skeletal disorders, with main interests in early-onset osteoporosis, skeletal dysplasias, and growth disorders. Our aim is to enhance understanding of disease mechanisms and establish means for early diagnosis, prevention and treatment in childhood-onset skeletal disorders.

Osteoporosis is a skeletal disorder characterized by deteriorated bone microarchitecture, compromised bone strength and increased risk of fracture. Osteoporotic fractures and their complications lead to considerable morbidity and mortality, making osteoporosis a major public health problem. Bone mineral density is known to be highly heritable. Osteoporosis is commonly considered a polygenic disorder, in which variations in multiple genes determine an individual’s skeletal characteristics and risk of osteoporosis. However, recent advances in genetic studies have identified several new genes and genetic loci that alone can lead to skeletal fragility. These monogenic forms of osteoporosis vary greatly in their skeletal and extra-skeletal features, severity, age-of-onset and disease course depending on the underlying genetic defect.

The aim of our research is to identify novel genes involved in the development of osteoporosis and to study the role of previously characterized genes and their variation in osteoporosis.  Our study subjects include patients and families with different genetic forms of early-onset osteoporosis. We use various advanced genetic methods, such as whole-genome and -exome sequencing, and several functional studies to elucidate the molecular mechanisms associated with the pathogenesis of osteoporosis. New information about the genetic causes of osteoporosis enables development of improved diagnostic tools and novel therapeutic methods.