Scientist Dr Whitney Whitford is skilled at finding missing pieces of DNA.
Her complicated version of a jigsaw puzzle involves things called copy number variants (CNVs). They are responsible for the duplications and deletions of genes or parts of genes that cause neurodevelopmental disorders.
As a PhD student at the University of Auckland Whitney developed a filtering and annotation system – called a ‘bioinformatic pipeline’ – to find and track CNVs in individuals with neurodevelopmental conditions.
Her doctoral research resulted in diagnoses for two families and life-saving treatment for a seven-year-old boy.
Whitney says one of the families participating in her research had two brothers, both with the same disorder. They had inherited genetic variants from both parents that prevented vitamin B being transported into their brain cells. The vitamin B deficiency had caused lesions in part of their brains causing seizures. The older brother died, but the younger brother survived after treatment-
She says the cause was very difficult to find, but the treatment was straightforward, using biotin and thiamine supplements. “It’s just understanding the genetic basis of what caused this condition. Our research was translated to the clinic and contributed to saving the remaining brother’s life.”
In 2019, funded through an IHC Foundation post-doctoral fellowship, Whitney took her skills and her computer pipeline to join the team at the university’s School of Biological Sciences on their project to find the causes of rare genetic conditions. Whitney’s role was to liaise with the families involved in the study and their clinicians, extracting DNA, and processing and analysing data.
Whitney says being able to deliver a diagnosis for 10 families was a great result. “Obviously we would always like more. We would like to be able to give every family an answer,” she says.
“We are as good as the best in the world.” But she also says, “We are not here for the glory. I know that our research can have such a profound effect on people’s lives.”
This project provided a platform for Whitney to obtain a three-year postdoctoral fellowship from the Neurological Foundation of New Zealand to continue her research career and she is now investigating the genetic basis of Charcot-Marie-Tooth disease in New Zealand. This is a group of disorders that cause nerve damage, resulting in smaller, weaker muscles and sometimes loss of sensation and voluntary movement. In New Zealand, the underlying genetic cause has only been identified in 40 percent of cases.
Whitney will be using genetic sequencing to identify DNA variations that cause the disorder. She says while she may not be actively researching neurodevelopmental conditions for the next three years, she will still be part of the team. We are still connected.”
Photo caption: Julia Koblitz on Unsplash.
Dr Whitney Whitford.