Dott. Massimiliano Alfano, PhD

Oxford Nanopore Technologies

Oxford nanopore technologies: technology update and applications

06/05/2024 – ore 14:30

Abstract: 

Oxford Nanopore Technologies (ONT) ha rivoluzionato il campo del sequenziamento del DNA attraverso l’introduzione di una tecnologia innovativa basata su nanopori. Le principali caratteristiche di questa tecnologia includono l’alta velocità di sequenziamento, la capacità di sequenziare frammenti estremamente lunghi e la possibilità di effettuare il sequenziamento in tempo reale. Queste caratteristiche rendono la tecnologia ideale per una vasta gamma di applicazioni, tra cui la genomica, la diagnosi di malattie genetiche, la microbiologia, la virologia, l’ecologia microbica e gli studi sulla metilazione del genoma umano. Durante il talk verranno discusse le sfide attuali e le prospettive future della tecnologia, evidenziando il suo potenziale impatto nel campo della biologia molecolare e della medicina.

INFO : seminari.irib@irib.cnr.it

Dr. Lucilla Mazzeo

Deal flow & Scouting Analyst
Scientifica Venture Capital

Dietro le quinte di un venture capital: dall’analisi del deal flow all’investimento in una start-up, i processi interni che misurano il valore di un progetto

21/03/2024 – ore 14:30

Abstract: 

Il webinar si propone di offrire una panoramica sul funzionamento di un venture capital, partendo dall’analisi del flusso delle opportunità di finanziamento fino all’investimento effettivo in una start-up. La presentazione si concentrerà principalmente sui processi interni che valutano il valore di un progetto, offrendo un’analisi delle metodologie e delle strategie d’investimento utilizzate.

INFO : seminari.irib@irib.cnr.it

Dr. Teresa Esposito

Senior Researcher, CNR-IGB

Identification of novel biomarkers for early prediction and progression of Parkinson’s disease through a multidisciplinary approach integrating omics data and in vitro modelling

29/02/2024 – ore 14:30

Abstract: 

Parkinson’s disease (PD) represents one of the most frequent neurodegenerative disorders for which genetic diagnosis is still challenging due to the high genetic heterogeneity associated with the disease and to the difficulty in interpreting test results. We have recently reported the identification of rare new gene variants in PD patients that support polygenic contribution to the disease. To better decipher the genetic complexity of PD and to identify novel biomarkers related to the PD etiology and severity we applied a multidisciplinary approach based on jointing ‘omics’ techniques (whole exome sequencing, proteomic, lipidomic metabolomics) with clinical data in circulating biofluids and cellular models. To address these objectives, we realized a Biobank for Parkinson’s disease which includes a large collection of PD samples (about 800 patients including familiar and sporadic cases) recruited at IRCCS Neuromed for which we collected and stored clinical information (neurological examination and drugs therapy), genetic data (WES) as well as DNA, serum, plasma, PBMC, fibroblast cell lines and induced pluripotent stem cells (iPSC).
Genetic analysis of the entire cohort discovered a significant excess of rare and deleterious variants in novel PD genes, highly expressed in human dopaminergic neurons, and involved in pathways potentially deregulated in PD including signal transduction pathways and endocytic recycling. In these genes, we identified both rare likely pathogenic variants, altering protein structure and dynamics, as well as frequent variants associated with PD risk. Moreover, we demonstrated that the co-inheritance of multiple rare variants (≥ 2) in a panel of 37 PD genes selected in this study, may predict disease risk in about 26% of patients, both familial and sporadic cases, with high specificity (> 90%; p = 3.23 x10-9). Furthermore, patients carrying multiple rare variants showed higher risk of manifesting dyskinesia induced by levodopa treatment (p=0.004), severe cognitive impairment (p=0.009) and an earlier age at onset of the disease (p=0.01).
Moreover, since PD is now considered to be a diverse group of disorders, rather than a single pathogenic disease entity, affecting both the peripheral and central nervous system, new approaches for the study of PD should be adopted by combining multiple omic layers of high-throughput sources to elucidate new biological information to a better understanding of neurodegenerative conditions. Lipids, metabolites, and proteins reflect the physiological and pathological status of an individual. Profiling these data types could be useful not only to highlight new pathways affected in PD condition but also to identify sensitive and effective markers for early disease detection and potentially effective therapeutic interventions. We applied this approach to investigate whether the presence of mutations in TMEM175 gene could reflect a characteristic lipidomic, metabolomic and proteomic signature of PD patients both at circulating and cellular levels. Preliminary data revealed a network of lipids and proteins associated to lysosomal and mitochondrial metabolism in Parkinson’s disease patients carrying mutations in TMEM175 gene.

INFO : seminari.irib@irib.cnr.it

Dott. Michele Migliore

Institute of Biophysics, National Research Council, Palermo

Cognitive functions and dysfunctions emerging from large-scale data-driven models of brain regions

15/12/2022 – ore 14:00

Abstract: 

Understanding the neural basis of brain functions and dysfunctions has a huge impact on a number of scientific, technical, and social fields. Experimental findings have given and continue to give important clues at different levels, from subcellular biochemical pathways to behaviors. However, most of the multi-level mechanisms underlying the cognitive architecture of the involved brain regions are still largely unknown or poorly understood. This mainly depends on the practical impossibility to obtain detailed simultaneous in vivo recordings from an appropriate set of cells, making it nearly impossible to decipher and understand the emergent properties and behavior of large neuronal networks. We are addressing this problem using large-scale computational models of biologically inspired cognitive architectures. I will present and discuss the main results and techniques we use to design and exploit full-scale models of neurons and networks implemented following their natural 3D structure, with the main aim to uncover the mechanisms underlying higher brain functions and helping the development of innovative therapies to treat brain diseases.

INFO : seminari.irib@irib.cnr.it

Prof. Satdarshan(Paul)S.Monga, MD

University of Pittsburgh and UPMC, Pittsburgh, PA USA

Seminario: “Decoding the Wnt-beta-catenin circuitry in liver zonation and regeneration“.

13/01/2022

Abstract: 

Liver is an organ vital for survival as it performs critical synthetic, metabolic, and detoxification functions. It is bestowed with several unique capabilities that allow maintenance of its function despite ongoing insult and injury. Two major processes that are highly relevant include metabolic zonation and liver regeneration. Metabolic zonation allows for cells in particular zone in a hepatic lobule to perform specific functions owing to restricted expression of genes. This allows compartmentalization of key functions of the liver on one hand and also provides opportunities for hepatocytes of specific zones to escape injury allowing repair by expansion of remnant cells. Likewise, hepatocytes have unlimited capacity to proliferate that allows liver to regenerate following surgical or toxicant insult. Over the last 20 years, we have been able to identify and carefully ascertain the cell-molecule circuitry of this complex pathway in regulating the process of liver metabolic zonation as well as regeneration. We have also been able to exploit this pathway to induce liver repair which could have high significance in both areas of liver transplantation as well as for treatment of liver failure. In summary, the talk will highlight the role and regulation of an important pathway in the liver.

INFO : seminari.irib@irib.cnr.it

Dott. Davide Mainieri

Istituto dei Sistemi Agricoli e Forestali del Mediterraneo (ISAFOM) del CNR

Seminario: “A role for skeletal muscle stearoyl-CoA desaturase 1 in the adipose-specific control of thermogenesis“.

20/07/2021 alle 14.00 su TEAMS

Abstract: 

Energy conservation mechanisms, which evolved to optimize survival capacity in an ancestral lifestyle characterized by periodic famine is an important factor that nowadays contribute to accelerate the rate of fat replenishment (or catch-up fat).
Skeletal muscle stearoyl-CoA desaturase 1 (SCD1) – a rate limiting enzyme that catalyzes the synthesis of monounsaturated fatty acids – is a key control point in the neurohormonal system of the adipose-specific suppression of thermogenesis.

INFO : seminari.irib@irib.cnr.it