CDHi Welcomes New Medical Advisory Board Member, Mauro Longoni

CDH International is very happy to welcome our long-time friend, Dr. Mauro Longoni, officially to our Medical Advisory Board.   Dr. Longoni is part of the genetic research team at Boston Children’s Hospital and has spoken at CHERUBS conferences many times over the years.   He is an adamant supporter of the charity and families affected by Congenital Diaphragmatic Hernia.  We are thrilled to have him on board.

“Molecular and clinical geneticist with experience in developmental biology, genetics and genomics, and a focus on rare disorders. As a trained clinical geneticist, I have cared for children affected with birth defects and developmental disorders, and I am passionate about basic science and its translational potential.”

Assistant Professor at Harvard Medical SchoolResponsible for the coordination of academic and non-academic research groups collaborating on different research projects with the goal of bringing together different know-how to characterize the biological role of genetic and genomic signatures identified through broad screening projects.

Assistant In Genetics, Massachusetts General Hospital – Focus on the identification of genetic and genomic variants in patients and functional studies with a wide variety of tools including: genetic mice and drosophila models, zebrafish morpholinos, induced pluripotent stem cells, and computational models (i.e. protein-protein interactions). Developed analytical strategies to interpret whole exome sequencing (WES) data in patient cohorts. Used linkage analyses and next generation sequencing (NGS) for familial studies.


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