Luke Chao, Ph.D. – 2018
Luke Chao, Ph.D. Assistant Professor Massachusetts General Hospital Linkedin Globe Twitter Characterization of OPA1 membrane phenotypes in childhood blindness Mutation in OPA1 results in dominant optic atrophy, the most frequent form of hereditary optic neuropathy resulting from devastating degeneration of retinal ganglion cells. A dynamin family GTPase, OPA1 catalyzes mitochondrial inner membrane fusion, maintains […]
Eliezer Calo, Ph.D. – 2018
Eliezer Calo, Ph.D. Assistant Professor of Biology Massachusetts Institute of Technology Linkedin Globe Twitter Elucidating Mechanisms Underlying Phenotypic Variation in Craniofacial Disorders Due to its anatomical complexity, the head is highly prone to genetic and environmental insults. Although 1% of newborns exhibit developmental deformities, one-third of these include craniofacial abnormalities. Over 700 distinct craniofacial […]
David Breslow, Ph.D. – 2018
David Breslow, Ph.D. Assistant Professor of Molecular, Cellular & Developmental Biology Yale University Linkedin Globe Twitter Defining a cilia-lysosome axis in developmental signaling and cilium-based disease The primary cilium is a protrusion from the cell surface that serves as a specialized center for signal transduction. A number of signaling pathways that control embryonic development, […]
Sichen Shao, Ph.D. – 2018
Sichen Shao, Ph.D. Assistant Professor Department of Cell Biology Harvard Medical School Linkedin Globe Twitter Activation of Nonsense-mediated Decay in Genetic Diseases and Childhood Development Mutations that introduce a premature termination codon (PTC) into protein-coding transcripts cause over 10% of congenital diseases. Nonsense-mediated decay (NMD) is a dedicated cellular pathway that degrades these mRNAs […]
Aaron Remenschneider, M.D., M.P.H. – 2018
Aaron Remenschneider, M.D., M.P.H. Assistant Professor of Otolaryngology University of Massachusetts Medical School Investigator, Department of Otolaryngology Massachusetts Eye and Ear Infirmary Linkedin Globe Twitter Advancing Pediatric Tympanoplasty with 3-Dimensionally Printed Eardrums Perforations of the eardrum occur as a result of chronic ear infections, trauma or blast injury and annually affect millions of pediatric […]
Richard Pierce, M.D., M.S. – 2018
Richard Pierce, M.D., M.S. Instructor of Pediatrics Department of Pediatrics Yale University Linkedin Globe Twitter Assessment and Mechanisms of Blood Vessel Dysfunction in Critically Ill Children The objectives of this proposal are to develop better assessments and understanding of blood vessel function in critically ill children. Blood vessels are continuously lined by endothelial cells […]
Andrew Kodani, Ph.D. – 2018
Andrew Kodani, Ph.D. Instructor in Pediatrics Department of Pediatrics Boston Children’s Hospital Linkedin Globe Twitter Zika Virus Alters Centrosome Architecture to Abrogate Developmental Signaling in the Brain Zika virus (ZIKV) is an arbovirus transmitted by mosquitos and causes neurodevelopmental disorders such as microcephaly in infants. Recent pandemic infections in South and Central America have led to increased cases of microcephaly, a developmental disorder that disrupts […]
Kira Bona, M.D., M.P.H. – 2018
Kira Bona, M.D., M.P.H. Instructor in Pediatrics, Harvard Medical School Department of Pediatric Oncology Dana-Farber Cancer Institute Linkedin Globe Twitter PediCARE: Feasibility of Novel Poverty-Targeted Intervention to Reduce Childhood Cancer Disparities Cancer remains the leading non-accidental cause of childhood death in the U.S., and novel efforts to address residual drivers of mortality in pediatric cancer […]
Andrea Reboldi, Ph.D. – 2017
Andrea Reboldi, Ph.D. Assistant Professor of Pathology University of Massachusetts Medical School Linkedin Globe Twitter Microbial and Dietary Reprogramming of Intestinal Immune Memory Enteric pathogens cause millions of cases of hospitalizations and deaths among children, especially in low-income countries, but effective vaccines are not available. Memory B cells are essential for an effective […]
Carrie Lucas, Ph.D. – 2017
Carrie Lucas, Ph.D. Assistant Professor of Immunobiology Yale School of Medicine Linkedin Globe Twitter Mechanisms of Disease in Pediatric Lymphocyte Disorders Caused by PI3K Gene Mutations Primary immunodeficiency diseases (PIDs) affect approximately 10 million people worldwide and most commonly present in childhood as severe susceptibility to infections. The broad objective of this study is to […]