Searching for the causes of pediatric growth defects
Professor Taneli Raivio’s research group examines the genetic and hormonal regulation of growth and development. What launches puberty, which factors regulate growth in height and the function of the pituitary gland? Which factors affect the regulation of sexual development?
The research group examines the hereditary causes of growth and development, uses induced pluripotent stem cells to model rare diseases and develops evidence-based treatments for patients with delayed puberty.
The most important research topics include the regulation of sexual development and the hormonal and genetic factors affecting growth. Among other things, the research results will be beneficial to families with rare diseases.
Helping patients as a measure of success
There have been several scientific successes. The research group was the first in the world to differentiate human ‘puberty neurons’ from stem cells, which is one step towards discovering the mechanisms behind puberty.
– I have always been fascinated by the mechanisms regulating growth and development. As researchers, we are excited to know that the results will also be useful to patients and their families in practice. For instance, we have described a new cause for a growth defect, Raivio explains.
Identifying the KCNQ1 gene defect as a cause of failure of the pituitary gland opened up a new field of research on an international level: how do ion channels regulate the growth of children?
The research group has recently completed a national multicentre trial and is now finding out the mechanisms of two rare diseases. Project funding from the Academy of Finland will help to launch another study into the KCNQ1 gene mutation.
– We will continue our long-span activities in national and international scientific networks for the benefit of our patients. We expect to be able to further improve the diagnostics and treatment of puberty disorders.
Taneli Raivio established the group in 2007 after returning to Finland from a research fellowship in the United States. The group includes 13 people: physicians, doctoral students and postdoctoral researchers. In addition, a few medical students are carrying out their advanced studies.
Helsinki University Hospital Children and Adolescentstaneli.raivio(a)hus.fi
Links to studies and surveys
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. Nature Communications, 2017 Nov 3;8(1):1289. doi:10.1038/s41467-017-01429-z.
Development of Gonadotropin-Releasing Hormone-Secreting Neurons from Human Pluripotent Stem Cells. Stem Cell Reports, 2016 Aug 9;7(2):149-57. doi: 10.1016/j.stemcr.2016.06.007
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism–pathogenesis, diagnosis and treatment. Nature Reviews Endocrinology, 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112