Dr Louise Bicknell from the University of Otago is collaborating with paediatric endocrinologists and genetics researchers to identify potential causes of height extremes. Until recently, access to whole exome sequencing (the ability to read a person’s entire DNA make-up) has been limited, but greater access is now available.
Using genetics for a better understanding
Dr Bicknell and her team will assess the genes of children who are above or below three standard deviations from the mean on height (about 0.1% of the population). They hope to identify novel variants in already-known genes, as well as genes never before discovered.
Insights for families
It’s hoped these discoveries will enable appropriate genetic counselling for families. Additionally, families will no longer feel they have to look for answers, a process that involves a multitude of tests that cause stress and anxiety.
Cure Kids funding
Dr Bicknell is using a grant from Cure Kids to pay for exome sequencing and bioinformatic analysis to investigate the genetic alterations and learn more about the underlying causes of extreme stature in children.
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