Posted By: HGG Advances HGGA: What motivated you to start working on this project? Anne Gregor (AG): I first became interested in FBXO11, when we and others could link variants in this gene to a variable neurodevelopmental disorder (NDD). As not much was known about neuronal functions of the ubiquitin ligase complex protein FBXO11 and... Read More
Genetic effects on the skin methylome in healthy older twins Position: PhD Student, King’s College London ASHG: Can you describe the type of research that has your primary focus? Christopher Shore: My research investigates the regulatory genomics underlying ageing processes in skin. In particular, I am interested in the complex dynamics between epigenetic modifications, alternative... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? CT: Early in my graduate training, I found myself pivoting from experimental biology to computational research in an environment that excelled in statistical genetics. This provided a fascinating intersection of disciplines where I was ultimately drawn... Read More
The Messenger sat down recently with Claudia Carvalho, PhD, an Assistant Investigator in the Carvalho Lab at the Pacific Northwest Research Institute, where her team explores the genetic causes of rare diseases and the biological mechanism of formation of genomic variants that impact disease expression. She has been a member of ASHG for 15 years... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? JM: From the perspective of developmental biology and physiology, I found it fascinating that a gene important for mitochondrial complex IV function could be deleted in its entirety. Yet, more important for me was the opportunity to help a family arrive... Read More