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In This Section
Dr. Akizu’s research focuses on genetic and epigenetic mechanisms of neurodevelopmental disorders and pediatric neurodegeneration, with the specific goals of uncovering particularities mechanisms that provide diversity to the human brain and to uncover novel disease mechanisms and therapeutic options.
Bio
Dr. Akizu is a faculty member of the Center for Cellular and Molecular Therapeutics at the Children’s Hospital of Philadelphia, and assistant professor of Pathology and Laboratory Medicine at the University of Pennsylvania. Dr. Akizu received her PhD at the University of Barcelona for her studies on the role of epigenetic chromatin modifications in the nervous system development.
In 2010 she joined Dr. Joseph Gleeson’s laboratory at University of California San Diego to leverage next generation sequencing methods to discover novel genetic causes for neurodevelopmental conditions. Dr. Akizu complemented her postdoctoral studies with training in human pluripotent stem cell (hPSC) modeling through a California Institute of Regenerative Medicine training award, and in animal model brain genetics through an internship with Dr. Uli Mueller at The Scripps Research Institute, La Jolla, Calif.
In her laboratory at Penn and CHOP, Dr. Akizu has established a unique approach integrating human genetics, hPSC and animal modeling, to transform genetic discoveries into novel insights on how genetic variants impact brain development and induce pathology.
Research in the Akizu Lab has led to the identification of novel genetic causes of neurodevelopmental disorders, and genetic, epigenetic and metabolic mechanisms of neuronal diversity generation and selective-neuronal vulnerability to disease.
As a mentor, she is committed to providing rigorous training tailored to individuals’ expertise and career goals within an inclusive laboratory environment. Since establishing her lab in 2017, Dr. Akizu has mentored several trainees, including three postdoctoral students, six predoctoral graduate students, a post-baccalaureate, seven undergraduate students, and four visiting scholars.
Education and Training
BS, University Pompeu Fabra (Biology), 2005
PhD, University of Barcelona (Biomedicine), 2010
Titles and Academic Titles
Researcher
Assistant Professor of Pathology and Laboratory Medicine
Professional Awards
Margaret Q Landerberger Foundation Award, 2020
The Intellectual and Developmental Disabilities Research Center New Program Development Award, Children’s Hospital of Philadelphia/University of Pennsylvania, 2018
National Ataxia Foundation Young Investigator Award, 2018
K99/R00 National Institutes of Health Pathway to Independence award, 2014
California Institute for Regenerative Medicine Training Award, 2011
Summa cum laude Distinction, Doctoral Thesis, 2010
Predoctoral Fellowship, Spanish National Research Council, 2006