Genetics in Noonan Syndrome - Dr Cathy Poulton - 2021 Noonan Syndrome Seminar 21st August, Perth, WA скачать в хорошем качестве

Genetics in Noonan Syndrome - Dr Cathy Poulton - 2021 Noonan Syndrome Seminar 21st August, Perth, WA

In this presentation Dr Poulton discusses the Genetic involvement of Noonan Syndrome within the context of Genetics WA. Dr Cathryn Poulton is Senior Fellow in Clinical Genetics with Genetic Services of Western Australia and the Undiagnosed Disease Program (UDP-WA). She is also an early career clinical researcher after completing her PhD in neurogenetics at the Erasmus MC, Rotterdam. She has a particular interest in 3D facial imaging and is a member of the cliniface team (www.cliniface.org) and previously led the “babyface” (neonatal facial imaging project) funded by the WA health research registrar fellowship.  Cathryn has co-authored 15 publications on a range of topics including new gene discovery, next generation sequencing and therapeutic responses to rare genetic conditions. Cathryn is originally from Devon, UK and trained in London and Cambridge before spending 4 years in genetic research in Holland and then moving to Perth.