Michael breen on the verge of a nervous breakthrough rar

Our research in the Center surveys peripheral immune responsivity and function in children with rare syndromic subtypes of autism using high-throughput genomic and cellular techniques, including scRNA-seq, metabolomics, proteomics and cytometry by time of flight.

This work has uncovered novel immunodeficiencies that underlie recurrent infections in rare disorders that are typically studied in the context of the central nervous system, thereby providing avenues for biomarker development and new therapeutic interventions to tackle common immune-related phenotypes. We are also interested in solving emerging biological and algorithmic problems, which arise from our studies and others, such as: a comparative transcriptomics and proteomics; b modelling transgenerational effects across generations; c predicting cellular frequencies from heterogeneous biological tissue; d multi-modal integrative deep machine-learning applications; e modelling RNA-editing in from heterogeneous RNA-sequencing data; f gene network reconstruction and multi-modal omic data integrations.

In addition to generating new data in support of these aims, we also use just about any high-throughput data we get our hands on in the public domain, which can ultimately be translated into better understanding biology.

The Seaver Autism Center is a fully integrated, translational research center that leads progressive studies and provides personalized care to individuals with autism and related rare disorders. As a team, we are dedicated to discovering the biological causes of autism and developing breakthrough treatments. We also collaborate with groups in the Center that generate genetically modified animal models for these genes as well as human iPSC-derived neurons, which we profile using functional genomic tools.

Follow the Seaver Autism Center on Twitter:. We strive to maintain an open-minded, creative and productive research environment, and we are fully committed to foster the growth and development of trainees in the wet and dry labs.

If you are interested in applying for a position, please send the following information to michael. Contact: Depts. Breen Laboratory Functional genomics applied to neurodevelopmental disorders. Immunogenetics of rare developmental disorders. Welcome to the Breen Lab! Winston H. Graduate student Contact: ryn. Winston completed their undergraduate education at the University of Nevada, Reno where they majored in Neuroscience with a minor in Biochemistry. In , Winston joined as a PhD student in the Biomedical Sciences graduate program through the Genomics and Data Science multidisciplinary training area.

They are currently mapping cell- and isoform-specific A-to-I editing in the brain. Gauri Ganesh. Research Associate Contact: ariela. Enrico Mossotto was a postdoctoral fellow and is now leading genomic research in Industry Joshua Senior was a research volunteer from Brooklyn Technical High School and is now attending University.

Our Research Genomics of brain development and neurodevelopmental disorders Our work pioneers large-scale genomic investigations of human cortical developmental, combing genetics, transcriptomics and proteomics see here and here. Mapping the regulation and function of A-to-I editing in brain health and disease Another component of our work is focused on elucidating highly regulated adenosine-to-inosine A-to-I editing sites in the human brain both with the main goal to prioritize RNA editing sites for functional, mechanistic, and RNA therapeutic investigation.

We are focused on three central areas: First, we aim to uncover A-to-I sites implicated in neurodevelopmental and neurodegenerative disorders using large-scale RNA-seq and snRNA-seq from postmortem brain samples and neuronal cell systems. Second, we seek to examine the functional impact of these RNA editing sites on protein function and cellular phenotypes, and we are specifically focused on sites encoding glutamatergic receptors, ion channels and pumps.

Third, we aim to develop site-directed RNA editing approaches for therapeutic correction of disease-related RNA editing sites as well as therapeutic repair of highly penetrant, rare genomic point mutations at the mRNA level. Immuno-genetics of neurodevelopmental disorders: biomarkers and treatments We have investigated the immunobiology of major neurological disorders for the past 10 years see a few examples here , here , here , here.

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