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IMSR Public Seminar: Kallmann syndrome and ciliopathy - An old problem and a new disease

Friday 6 November 2020 (13:00-14:00)

James Durrant

Kim SH photo 2v2
Soo-Hyun Kim

This talk is part of the IMSR Online Seminar Series

The talk will mainly focus on the molecular and cellular mechanisms underlying congenital hypogonadotropic hypogonadism and Kallmann syndrome. These are genetic disorders characterised by delayed puberty and infertility due to low sex steroids production and secretion. Dr Kim's group has conducted various studies using human and mouse cell lines, genetically modified animal models and patient gene sequencing data. These led to the identification of several new genes/variants and molecular signal pathways important in the human reproductive health. The group are currently interested in the Hedgehog signalling pathway, one of the major developmental morphogenesis pathways. Hedgehog signalling also plays an important role in maintaining homeostasis in adults, therefore, any disruptions of Hedgehog signal pathway can result in disease conditions such as infertility and cancer. The group recently found that one of the genes associated with Kallmann syndrome plays an important role in the Hedgehog signalling pathway regulation and ciliogenesis, the formation of cilia.

Dr Kim received a PhD from Rutgers University, New Jersey, USA, followed by postdoctoral trainings in ICRF in London (which is the previous CRUK and now the Crick Institute). She worked as a Senior Research Fellow at the Centre for Neuroendocrinology, UCL Medical School, Royal Free Campus, and then became a group leader at St. George’s Medical School. She has received substantial grants from BBSRC and MRC.

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