Looking at genetic links to growing up very short or very tall

Dr Louise Bicknell is collaborating with paediatric endocrinologists and genetics researchers to identify potential causes of height extremes. With Cure Kids support, the study will assess the genes of children who are above or below three standard deviations from the average height. They hope to identify novel variants in already-known genes, as well as genes never before discovered.

Dr Louise Bicknell

University of Otago

Due to advances in DNA sequencing, researchers are finding out more about the origins of conditions suspected to have a genetic component. This includes learning about the genetics of children who are either very short or very tall. Being extremely short or tall can significantly affect quality of life, especially for those at the short end of the spectrum.

Understanding the genetic signature on the extremes of height

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.

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.

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.

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 is driving this study

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 the causes of the extreme stature in the affected child.