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Collaborators

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William H. Peranteau, MD

Attending Surgeon, Division of Pediatric General, Thoracic & Fetal Surgery

Dr. Peranteau is an attending surgeon in the Division of Pediatric General, Thoracic and Fetal Surgery and an associate professor of Surgery at CHOP. His research interest is in fetal development as it relates to the potential understanding of and fetal intervention for congenital anomalies.

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Professor of Pathology and Laboratory Medicine

Dr. Wang's research aims to develop novel genomics and bioinformatics methods to improve the diagnosis, treatment, and prognosis of rare diseases, to ultimately facilitate the implementation of genomic medicine on scale. His research can be divided into several areas. First, Dr. Wang and his lab are developing analytical pipelines for whole genome and whole exome sequencing data. Some examples of computational tools used in the lab include ANNOVAR, Phenolyzer, InterVar, and CancerVar. Dr. Wang and his team are also developing genomic assays and methods to analyze long-read data, such as those generated from linked-read sequencing, optical mapping, PacBio, and Nanopore sequencing. These methods help identify causal genetic variants on cases that failed to be diagnosed by traditional whole genome/exome sequencing approaches, and help map aberrant DNA modifications such as methylations in tissues from patients in comparison to controls. Some examples of computational tools developed by the lab include RepeatHMM, NextSV, LongSV, LinkedSV, LongGF, NanoMod, DeepMod, and DeepRepeat. Additionally, Dr. Wang is developing data mining approaches from clinical phenotypic information in Electronic Health Records (EHR) to correlate genotype and phenotype together, and better understand the phenotypic heterogeneity of inherited diseases. Some examples of computational tools the lab employs include EHR-Phenolyzer, Doc2HPO, Phen2Gene, and PhenCards, which use natural language processing on clinical notes to predict possible genetic syndromes and candidate genes.

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Mohamad-Gabriel Alameh

Assistant Professor of Pathology and Laboratory Medicine

Dr. Alameh received his B.S. and M.S. degrees from the University of Montreal, and his Ph.D. in Biomedical Engineering from Polytechnique Montreal. His thesis work focused on understanding the intrinsic and extrinsic parameters affecting chitosan-siRNA nanoparticle macromolecular properties and their effect on in vitro, and in vivo efficacy; a work that has led to better understanding of chitosan-nucleic acid design principles. Dr. Alameh joined the laboratory of Dr. Drew Weissman at the University of Pennsylvania as a Postdoctoral Fellow in 2018, where he led multiple vaccine projects as well as projects to better understand the interaction of lipid nanoparticles with the immune system. Dr. Alameh is also involved in the development of novel proprietary lipids, adjuvants and display strong interest in mRNA construct optimization. Dr. Alameh is also the director of the Engineered mRNA and Targeted Nanomedicine Core.

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