Cláudia M.B. Carvalho, PhD, has been appointed to the Scientific Advisory Board of the FAM177A1 Research Fund. She has served as an Assistant Investigator at the Pacific Northwest Research Institute (PNRI) since 2020, focusing on identifying DNA alterations associated with human genetic diseases, particularly those affecting children. Her research involves establishing DNA variant signatures in rare genetic diseases, studying the mechanisms of alteration formation, and understanding their impact on disease development. Her ultimate research objective is to propose hypotheses for functional investigations, biomarker development, and clinical interventions. Cláudia obtained her PhD in Biochemistry from the Federal University of Minas Gerais in Belo Horizonte, Brazil, and completed a postdoctoral fellowship at Baylor College of Medicine in Houston, Texas. Before joining PNRI, she served as an Assistant Professor at Baylor for six years and currently holds a visiting faculty position in the Department of Molecular and Human Genetics there. Additionally, she is an affiliate faculty member of the University of Washington’s Department of Genome Sciences and a faculty member of the Molecular & Cellular Biology Graduate Program.
The FAM177A1 Research Fund is thrilled to add Dr Carvalho's expertise to it's SAB. Dr Carvalho states, "My lab is interested in understanding formation of pathogenic structural variation, specifically in neurodevelopmental disorders, and how that affects disease expression. FAM Disorder is a good model as it can be caused by structural variation. It also provides opportunity to investigate the underlying cause of disease expression variability in individuals from distinct families through the establishment of an allelic series which is a clinical feature observed in FAM disorder. Allelic series studies are important for establishment of core phenotypes for a given disease as well reveal biological mechanism that can be targeted in therapeutic studies (for instance, hypomorphic alleles require a distinct target approach compared to loss of function and gain of function alleles)."
Tune in to the PNRI Science: Mystery & Discovery Podcast to hear Dr. Carvalho in conversation with PNRI CEO Jack Faris, PhD. At 22:40 minutes into the episode, Jack and Cláudia delve into Jill Hawkins' achievements in sparking interest and advancing research on FAM177A1.
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