Common genetic association in autoimmune diseases
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This document discusses the genetic architecture of autoimmune diseases and the potential for finding shared genetic factors across diseases. It acknowledges genes that are common to more than one autoimmune disease and the motivations for exploring an over-arching theme. It then describes the focus on immune-related single nucleotide polymorphisms (SNPs) replicated in genome-wide association studies of rheumatoid arthritis, multiple sclerosis, type 1 diabetes, psoriasis, ankylosing spondylitis and systemic lupus erythematosus. It details the process of data collection and meta-analysis across these studies to identify loci associated with more than one autoimmune disease.
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![Converging on a theme: autoimmune genetic architecture across diseases Chris Cotsapas PhD Daly Lab MGH/Broad Institute [email_address] broad.mit.edu/~cotsapas/autoimm.html](https://image.slidesharecdn.com/cotsapasfocis20080609-1213210753026488-8/85/Common-genetic-association-in-autoimmune-diseases-1-320.jpg)
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In this deck from DOE CSGF 2019, Sarah Middleton from GlaxoSmithKline presents: Single-Cell Sequencing for Drug Discovery: Applications and Challenges.
"Most gene expression studies have been performed on “bulk” tissue samples, consisting of millions of cells of various types and functions mixed together. Although such research is extremely useful for comparing general characteristics of tissues – for example, before and after therapeutic drug treatment – they are limited in their ability to inform on the characteristics and responses of different cell types within the tissue. More recently, advances in techniques for single-cell RNA sequencing have made it possible to profile gene expression in individual cells on a large scale, opening up the possibility to explore the heterogeneity of expression within and across cell types. This exciting technology is now being applied to almost every tissue in the human body, with some experiments generating expression profiles for more than 100,000 cells at a time. However, several roadblocks still stand in the way of making full use of this information, including issues related to missing data and scaling up existing bioinformatics analytical tools. Here, I will discuss some of the ways single-cell RNA-sequencing is being used to improve drug discovery and development, as well as some of the challenges we currently face. I’ll also highlight a new approach I am developing to help overcome some of these challenges."
Watch the video: https://wp.me/p3RLHQ-lkw
Learn more: https://www.krellinst.org/csgf/conf/2019/agenda
Sign up for our insideHPC Newsletter: http://insidehpc.com/newsletter
Deletion 17q12 recurrent copy number variant ashadeep chandrareddy daniel d...
This document summarizes a study that found a recurrent 1.4 Mb deletion at chromosome 17q12 in patients with autism spectrum disorder (ASD) or schizophrenia, but not in controls. The deletion removes the HNF1B gene. In a follow up sample of over 8,000 patients and nearly 48,000 controls, the deletion was identified in patients with ASD/neurocognitive impairment and schizophrenia, but not controls. Clinical assessment of nine patients found features including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. This provides further evidence that rare copy number variants can contribute to both ASD and schizophrenia, and that one or more genes in the 17q12 region are important
헬스케어 빅데이터로 무엇을 할 수 있는가?
Healthcare big data can be used to gain insights into human health and disease through various data sources like genetics, electronic health records, insurance claims, medical images, and sensor data. This data when analyzed using techniques like genome-wide association studies, transcriptomics, proteomics, and metabolomics can provide novel findings and reveal genetic and environmental factors influencing common and rare diseases. Integrating these different types of omics data offers opportunities for more precise diagnosis, treatment and prevention strategies in precision medicine.
Viral vectors Gene Replacement Therapy.pptx
This document discusses biosafety considerations for gene therapy including criteria for categorizing biological risk, the history of human gene therapy, and risk management when working with adeno-associated virus (AAV) vectors. It provides guidelines for ensuring appropriate containment procedures based on risk group classifications from organizations like the NIH and WHO. Gene therapy aims to treat disease by replacing or correcting defective genes, and AAV vectors are promising for gene transfer and expression due to their ability to infect cells and remain as episomes.
From reads to pathways for efficient disease gene finding
Presentation at the 6th Annual Next Generation Squencing Congress. 20 & 21 November, 2014.
Queen Elizhabeth II Conference Center, London, UK
GWAS Study.pdf
GWAS studies examine associations between genetic variants and observable traits. They involve genotyping large numbers of individuals for SNPs across the genome and identifying statistical associations between specific SNPs and traits. Key challenges include identifying causal variants from associated regions and prioritizing SNPs for follow up. GRAIL and GenoWAP are approaches for addressing these challenges by integrating functional genomic data with GWAS results to predict causal genes and prioritize SNPs for further study. GRAIL ranks genes in associated regions based on relatedness to other genes in GWAS-implicated regions. GenoWAP integrates functional predictions and GWAS p-values to assign each SNP a score reflecting its potential importance.
DR9BiosafetyHandlingforGeneReplacementTherapyDC01-R.pptx
This document discusses biosafety considerations for gene therapy. It provides information on criteria used to categorize biological risk, the history of human gene therapy, and risk management procedures when working with adeno-associated virus vectors. It also discusses criteria used to ensure appropriate containment procedures are followed.
DR9BiosafetyHandlingforGeneReplacementTherapyDC01-R.pptx
Gene therapy is a technique that modifies a person's genes to treat or cure disease. Gene therapies can work by several mechanisms: Replacing a disease-causing gene with a healthy copy of the gene. Inactivating a disease-causing gene that is not functioning properly. Genetic therapies hold promise to treat many diseases, but they are still new approaches to treatment and may have risks. Potential risks could include certain types of cancer, allergic reactions, or damage to organs or tissues if an injection is involved. Recent advances have made genetic therapies much safer. Gene therapy is on course to revolutionize medical care for several conditions. The hope is that gene therapy will be a one-time curative therapeutic intervention for diseases ranging from inherited hemoglobinopathies, such as sickle cell disease and thalassemia, to acquired diseases such as HIV.
Gene Replacement Therapy .pptx
This document discusses biosafety considerations for gene therapy. It provides an overview of criteria used to categorize biological risk and ensure appropriate containment procedures when working with vectors like adeno-associated virus. Gene therapy aims to treat diseases by gene replacement, correction, or supplementation. Viral vectors like AAV are promising for gene transfer due to their ability to infect cells and integrate therapeutic DNA. However, risk assessment and containment procedures are necessary given the potential for immune response.
Dr9 biosafetyhandlingforgenereplacementtherapydc01 r
This document discusses biosafety considerations for gene therapy. It provides an overview of criteria used to categorize biological risk and ensure appropriate containment procedures when working with vectors like adeno-associated virus (AAV). Gene therapy aims to treat diseases by gene replacement, correction, or silencing. Viral vectors are often used to deliver therapeutic genes and AAV is particularly promising due to its ability to infect cells and lack of pathogenicity. Risk assessment and containment procedures should match the assigned biosafety level of the agent being used.
A New Generation Of Mechanism-Based Biomarkers For The Clinic
The document discusses moving from single gene biomarkers to more functional, modular biomarkers for disease. It argues that most diseases are caused by combinations of variants affecting functional modules rather than single genes. The document proposes analyzing genomic data like SNPs and gene expression in the context of protein interaction networks and gene ontologies to better capture disease mechanisms and identify more informative biomarkers. Examples show how this approach can prioritize genes interacting with known disease genes and find enriched functional groups associated with diseases.
Visualizing Patient Cohorts: Integrating Data Types, Relationships, and Time
Talk presented at the EMBL-EBI Industry Programme workshop on "Innovations in Visualization for Drug Discovery" in June 2018.
srRNA-based Cancer Vaccines.pptx
srRNA-based Cancer Vaccines
This document discusses srRNA-based cancer vaccines. It begins with an introduction to cancer and current cancer treatment methods. It then discusses different cancer vaccine platform types, including viral-based vaccines which can use self-replicating RNA (srRNA) from alphaviruses. The document outlines the replication mechanism of alphaviruses and different types of srRNA cancer vaccines. It provides the example of using srRNA viral replicon particles (VRPs) in an HPV vaccine and discusses other applications of srRNAs beyond cancer vaccines, such as in stem cell research.
Information Genetic Content (IGC): a comprehensive discovery platform for dis...
Information Genetic Content (IGC): a comprehensive discovery platform for dis...Thermo Fisher Scientific
We developed Information Genetic Content (IGC), a comprehensive
knowledgebase and discovery tool for human genes and genetic disorders
research use. IGC comprises three components: the Disease-Association
Database (DAD), the Gene Scoring Algorithm (GSA), and the Virtual Panel
Library (VPL). The DAD module contains over 400,000 associations
between over 17,000 genes and 15,000 Mendelian and complex diseases
from both expert-curated and text-mined data. The DAD module also
features a hierarchical organization of human diseases using a UMLScontrolled
vocabulary, permitting queries at any level of the disease
ontology hierarchy. The GSA module aims to prioritize genes for a specific
disease of interest. This gene scoring algorithm is distinctive in the way it
combines the strength of association and the number of associated
diseases to provide an unbiased score for each gene. In conjunction with
the DAD module, the GSA module is able to produce a list of ranked genes
for one or more diseases at any level of the disease hierarchy. The VPL
module generates optimal gene grouping by disease classification using
hierarchical-clustering-based network analysis. Genes that are involved in
the same pathological pathways are grouped into the same cluster.Similar to Common genetic association in autoimmune diseases (20)
A Report of the Alopecia Areata Registry, Biobank and Clinical Trials Network...
A Report of the Alopecia Areata Registry, Biobank and Clinical Trials Network...
Single-Cell Sequencing for Drug Discovery: Applications and Challenges
Single-Cell Sequencing for Drug Discovery: Applications and Challenges
Deletion 17q12 recurrent copy number variant ashadeep chandrareddy daniel d...
Deletion 17q12 recurrent copy number variant ashadeep chandrareddy daniel d...
From reads to pathways for efficient disease gene finding
From reads to pathways for efficient disease gene finding
DR9BiosafetyHandlingforGeneReplacementTherapyDC01-R.pptx
DR9BiosafetyHandlingforGeneReplacementTherapyDC01-R.pptx
DR9BiosafetyHandlingforGeneReplacementTherapyDC01-R.pptx
DR9BiosafetyHandlingforGeneReplacementTherapyDC01-R.pptx
Dr9 biosafetyhandlingforgenereplacementtherapydc01 r
Dr9 biosafetyhandlingforgenereplacementtherapydc01 r
A New Generation Of Mechanism-Based Biomarkers For The Clinic
A New Generation Of Mechanism-Based Biomarkers For The Clinic
Visualizing Patient Cohorts: Integrating Data Types, Relationships, and Time
Visualizing Patient Cohorts: Integrating Data Types, Relationships, and Time
Artificial intelligence – the next generation of sequencing?
Artificial intelligence – the next generation of sequencing?
Information Genetic Content (IGC): a comprehensive discovery platform for dis...
Information Genetic Content (IGC): a comprehensive discovery platform for dis...
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Psaroudakis: Family and Football – The Psaroudakis Success Story
Psaroudakis, a name that resonates with football fans around the globe, is a testament to the powerful synergy between familial support and individual passion. Born on March 10, 1992, in the historic city of Heraklion, Crete, Psaroudakis’ journey to international football stardom is a compelling narrative of dedication, perseverance, and unwavering family support. His story not only highlights his athletic prowess but also underscores the crucial role his family played in shaping his career and character.
Psaroudakis’ early life in Heraklion was deeply influenced by a supportive and nurturing family environment. His father, a former semi-professional footballer, recognized Psaroudakis’ potential from an early age. Acting as his first coach, his father’s guidance was instrumental in igniting Psaroudakis’ passion for football. This paternal influence instilled in him a strong work ethic and fundamental skills that would become the foundation of his future success. His mother, a dedicated homemaker, provided a stable and nurturing environment, ensuring that Psaroudakis could pursue his dreams without any hindrances.
From a young age, Psaroudakis showed an innate talent for football. Growing up in Heraklion, he spent countless hours playing football in local parks and streets with friends and family. His natural ability was evident even in these informal settings, and his enthusiasm for the game was infectious. By the age of five, Psaroudakis had joined a local youth football club, where his skills began to flourish. His father’s role as his first coach during these formative years was crucial, as he emphasized not only technical skills but also the importance of discipline and teamwork.
The transition from playing in local parks to joining a structured football environment marked a significant step in Psaroudakis’ journey. At the age of ten, he joined the youth academy of OFI Crete, one of Greece’s most esteemed football clubs. This move marked the beginning of a more rigorous and professional approach to his training. The academy environment was demanding, focusing on honing technical abilities and instilling values of sportsmanship and dedication. Psaroudakis’ dedication to his craft was evident as he quickly rose through the ranks, becoming a standout player in the youth teams.
The support of Psaroudakis’ family was unwavering during this critical period. His father continued to be a source of guidance and mentorship, while his mother ensured that he had everything he needed to succeed. Their collective efforts created a balanced environment where Psaroudakis could focus entirely on his development as a footballer. This familial support was not just about providing the basics; it was about creating an environment where Psaroudakis felt encouraged and motivated to pursue his dreams relentlessly.
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留信网认证的作用:
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Common genetic association in autoimmune diseases
- 1. Converging on a theme: autoimmune genetic architecture across diseases Chris Cotsapas PhD Daly Lab MGH/Broad Institute [email_address] broad.mit.edu/~cotsapas/autoimm.html
- 2. Acknowledgements Mark Daly Steve Rich David Hafler Sarah Krause John Todd Jeff Barrett Tim Behrens Rob Graham John Harley Carl Langefeld Pat Gaffney Kathy Moser JT Elder Goncalo Abecasis Peter Gregersen Lars Klareskog Leonid Padyukov Robert Plenge David van Heel Judy Cho Michel Georges John Rioux Chris Amos
- 5. Genes common to >1 disease
- 11. Loci ascertained in T1D: Association in RA