2021 CHARGE Scientific & Clinical Research Grant Awardees
Title of project: Combining the power of C. elegans for genetic and drug screenings and in vitro models to study CHD7 and semaphorin interactions and identify novel pharmacological targets for CHARGE syndrome therapies.
Principal Investigators: Dr. Anna Cariboni, Associate Professor in Experimental Biology – University of Milan, Italy and Dr. Elia Schiavi, CNR, Italy.
Title of Project: Understanding and treating sleep disturbances and other behavioral features in CHARGE syndrome.
Principal Investigator: Dr. Annette Schenck, Professor Translational Genomics of Neurodevelopmental Disorders, Mireia Coll-Tané – Radboud University, Netherlands
Title of Project: Ephedrine and derivatives for treating neurological symptoms of CHARGE Syndrome
Principal Investigators: Kessen Patten, PhD, Associate Professor – Institut National de la Recherche Scientifique (INRS) – Quebec, Canada and Dr. Nicolas Pilon, Professor of Molecular Biology, Université du Québec à Montréal (UQAM), Montréal, Canada.
2020 CHARGE Scientific & Clinical Research Grant Awardees
Title: Altered developmental senescence of semicircular canals as the basis of CHARGE syndrome vestibular defects
Principal Investigator: Manuel Collado, PhD, Head, Laboratory of Stem Cells in Cancer and Aging, (stemCHUS); Health Research Institute of Santiago de Compostela (IDIS)
Title: Use of pediatric belt canes with young children with CHARGE syndrome who are not meeting their gross motor milestones
Principal Investigator: Dr. Grace Ambrose-Zaken, Certified O&M Specialist, Project Coordinator RT and O&M Programs; Hunter College CUNY
Title: A New Cytoskeletal Activity for CHD7
Principal Investigator: In Young Park, Ph.D., Assistant Professor – Center for Precision Environmental Health/Department of Molecular and Cellular Biology; Baylor College of Medicine
2019 CHARGE Scientific Research Grant Awardees
Title: Growth charts for children with CHARGE syndrome
Principal Investigator: D.R. Dijk, MD, Resident in medicine for people with intellectual disabilities/PhD student, UMCG. G. Bocca, MD, PhD, Pediatric endocrinologist, UMCG. Prof. C.M.A. van Ravenswaaij-Arts, MD, PhD Clinical geneticist, professor in dysmorphology, UMCG. S. la Bastide-van Gemert, PhD, Statistician, UMCG
Title: Elucidating the Role of the Second Heart Field in the Pathogenesis of AVSDs in CHARGE syndrome
Principal Investigator: Dr. Andy Wessels: Professor and Vice-Chair, Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC
Title: “The identification and Testing of Novel Drug Targets in CHARGE syndrome”
Principal Investigator: Sean M. McBride, M.D., Ph.D. Assistant Professor in Cell Biology & Neuroscience, Psychiatry and Geriatrics and Gerontology at RowanSOM.
2018 CHARGE Scientific Research Grant Awardees
Title: Investigating the Contribution of Cis-Regulatory Elements to CHARGE Syndrome
Principal Investigator: Dr. Stephanie Bielas, Ph.D., University of Michigan Medical School, Department of Human Genetics
Title: Neurobehavioral analysis of a zebrafish model of CHARGE syndrome
Principal investigator: Kurt Marsden, Ph.D., North Carolina State University, Department of Biological Sciences
Title: SoxC factors and their contribution to the ocular complications of CHARGE syndrome
Principal Investigator: Ann C. Morris Ph.D, University of Kentucky
2017 CHARGE Scientific Research Grant Awardees
Anna Cariboni, University of Milan, Italy, “Dissecting the role of CHD7 and SEMA3A signalling in the control of reproduction and olfaction, which are defective in CHARGE syndrome patients”
Judith Yanowitz, University of Pittsburgh, “Exploring the role of Chd7 as a master regulator of autophagy”
Daniel R. Marenda, Drexel University, “Assessing HDAC inhibition as a therapeutic strategy for CHARGE syndrome”
Weijun Feng and Hai-Kun Liu, University of Heidelberg, “Modeling CHARGE syndrome using human iPSCs-derived brain organoid culture”
2016 CHARGE Scientific Research Grant Awardees
M. Albert Basson, King’s College London
Project Title: “The neurological basis of executive dysfunction in CHARGE syndrome”
Announcement of paper by Albert Basson:
Dr. Albert Basson from King’s College London, and his research group, recently published a seminal study in the Journal of Clinical Investigation entitled “The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression”. In the study, they show that CHD7, the gene disrupted in CHARGE syndrome, contributes to development of the cerebellum, a critical brain structure that controls movement, cognition, and processing of sensory information. They show that loss of CHD7 regulates other genes known to be involved in cerebellar function, and that mice with reduced levels of CHD7 have abnormalities in cerebellar development. Dr. Basson is a recipient of a 2016 CHARGE research pilot award from the foundation. We congratulate him and his colleagues on their achievements.
Chuntao Zhao and Q. Richard Lu, Cincinnati Children’s Hospital Medical Center
Project Title: “Functional Analysis of CHARGE Syndrome-related Chromatin Remodelers in CNS Myelination”
Nicolas Pilon, University of Montreal
Project Title: “Characterization of a new candidate gene for CHARGE syndrome”
2015 Pilot Grant Recipients
Philip Gage, Ph.D. at University of Michigan
Project Title: Analysis of ocular functions of CHD7 in mouse modes of CHARGE Syndrome
Faith Liebl, Ph.D. at Southern Illinois University
Project Title: Assessing the role of Kismet and CHD7 in synapse development and function using the Drosophila neuromuscular junction
Kathrin Schmeisser, Ph.D. at Université de Montréal
Project Title: Rapid drug discovery in genetic models of CHARGE Syndrome
Kai Jiao , M.D., Ph.D. at University of Alabama at Birmingham
Project Title: Regulation of gene expression by CHD7 in embryonic cardiomyocytes
Read More About Previous Grant Recipients
2014 Pilot Grant Recipients
Dr. Ruchi Bajpai at University of Southern California
Project Title: Identifying negative regulators of CHD7 as potential therapeutic targets for CHARGE
Fumiaki Imamura, Ph.D. at Pennsylvania State University
Project Title: Role of CHD7 in Nerve Formation
Allison Bardin, Ph.D. at Institut Curie
Project Title: Exploring the link between CHD7 and the COMPASS-like complex
Dr. Conny van Ravenswaaij-Arts at University Medical Center Gronigen
Project Title: Neurological Functioning and Cerebellar Anomalies in CHARGE syndrome
2013 Pilot Grant Recipients
Peter Scacheri, Ph.D. at Case Western Reserve University
Project title: Human iPS cells as a model for the study and treatment of CHARGE syndrome
Mats Ljungman Ph.D. at University of Michigan
Project title: Use of Bru-Seq to explore the role of CHD7 in gene expression
Michael E. Talkowski, Ph.D. at Harvard Medical School:
Project title: Cryptic Genetic Causes and Modifiers of CHARGE syndrome
2012 Pilot Grant Recipients
Ching-Pin Chang, M.D., Ph.D. Stanford University School of Medicine
Project title: Heart development and CHARGE syndrome.
Kelvin Y. Kwan Ph.D. Rutgers University
Project title: Identification of Molecular Markers to Determine Cochlear Implant Candidacy in CHARGE syndrome.
Robert Hevner, M.D., Ph.D. University of Washington
Project title: Cerebral cortex development in a mouse model of CHARGE syndrome
Elizabeth A. Hurd, Ph.D and Adam B. Stein, M.D. University of Michigan
Project title: Investigating the role of CHD7 in neural crest lineage cells.
