Webinar: Finding a needle in the haystack: a genetic diagnosis for a one-in-a-million condition
On Monday Dr Louise Bicknell of Otago University hosted a webinar focusing on genetics and rare disorder research. Entitled 'Finding a needle in the haystack: a genetic diagnosis for a one-in-a-million condition', the webinar gave an overview of new technologies, covered the analysis steps researchers use to narrow their search and shared how researchers connect with other labs around the world to find more patients and build genetic evidence.
Dr Bicknell leads a research team at the University of Otago, where they are interested in how genetic markers can influence our development and lifetime health. She has a particular focus on identifying the genetic causes of previously uncharacterised conditions that affect how our bodies and brains grow, and her team are passionate about getting genetic answers for families with rare disorders. Dr Bicknell works closely with clinical geneticists in both NZ and around the world, to maximise the genetic power of these one-in-a-million conditions and to help as many families as possible. She will present an overview of the approach she uses to study the genetics of these disorders, and some of her recent research insights.