Single gene disorders - PowerPoint PPT Presentation


Overview of Gene Transfer Methods in Molecular Biology

Explore various physical and chemical methods used for gene transfer, including electroporation, particle bombardment, microinjection, ultrasound, and bacterial transformation. Learn how DNA enters the nucleus and the role of retroviruses in gene transfer efficiency. Understand the process of RNA co

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Gene Therapy and Genome Editing Technology

This article provides insights into the status, regulatory considerations, and delivery methods of gene therapy and genome editing technologies. It discusses approved gene therapies in the US, human genome editing in clinical applications, and the regulatory authority of the FDA over gene therapy. T

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Understanding Gene Expression Regulation in Prokaryotes and Eukaryotes

Gene expression is a crucial process that leads to the production of functional gene products like RNA and proteins. This article explores the regulation of gene expression in both prokaryotes and eukaryotes, covering the importance of regulating gene expression, types of regulation elements, specif

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Overview of Human Genetic Disorders

Human genetic disorders encompass a range of conditions, from recessive disorders like cystic fibrosis to dominant disorders such as Huntington's disease. Examples include cystic fibrosis, Huntington's disease, and sickle-cell anemia. Understanding genetic disorders involves research and awareness o

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Understanding Artefacts and Biases in Gene Set Analysis

Gene set enrichment tests help identify functional gene sets enriched in hit lists compared to background sets. Various biases (technical, biological, statistical) can lead to incorrect conclusions in data analysis, emphasizing the importance of recognizing and addressing them. Technical biases like

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Exploring Genetics and Genomics in Integrative Biology

Delve into the world of genetics and genomics through the lens of integrative biology, investigating the differences between cell types, the rationale for gene expression profiling, and the analysis of differential gene expression in various diseases. Uncover the significance of gene ontology, co-ex

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Overview of Anxiety and Related Disorders

Anxiety disorders, such as PTSD, panic disorders, phobias, agoraphobia, and OCD, are characterized by varying degrees of fear and distress. Anxiety is a normal response to danger, but when it becomes chronic, it can lead to debilitating conditions. PTSD occurs post-trauma, panic disorders involve in

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Understanding Somatic Symptom Disorders, Conversion Disorders, and Dissociative Disorders

Somatic symptom disorders manifest as physical symptoms without apparent cause, while conversion disorders involve specific physical symptoms incompatible with medical conditions. Illness anxiety disorder involves interpreting normal sensations as disease symptoms. Dissociative disorders lead to a s

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Gene Expression Profiling in Statistical Genetics Summer Institute 2020

This content provides information on the Summer Institutes of Statistical Genetics module, focusing on gene expression profiling. It includes details on the schedule, experimental design, RNA sequencing workflow, modes of bulk RNA sequencing, and RNASeq software. The content discusses crucial steps

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Understanding Gene Mutations in Molecular Biology

Gene mutations play a significant role in molecular biology, leading to alterations in DNA sequences that can impact offspring. These mutations can arise spontaneously or be induced by various factors, such as mutagens. Understanding gene mutations is crucial for comprehending the genetic basis of c

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Understanding Inborn Errors of Metabolism and Metabolic Disorders

Inborn Errors of Metabolism (IEM) are genetic disorders that disrupt metabolic pathways, leading to substrate accumulation or product deficiency. These disorders can be classified based on toxic accumulation, protein metabolism, carbohydrate intolerance, lysosomal storage issues, energy production d

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Understanding Co-occurring Mental and Physical Health Conditions

Co-occurring mental and physical health disorders are prevalent and require an integrative multidisciplinary approach for effective assessment and treatment. This holistic approach helps address the complexity of managing multiple disorders in an integrated healthcare setting. Through a multi-direct

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Co-Developing Risk Assessments in Gene Drive

Gene drive technology is a cutting-edge approach aimed at combating malaria by spreading genetically modified genes in mosquito populations. This technology has the potential to protect endangered species and conserve nature. However, successful implementation requires complex collaborations, risk a

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Understanding Gene Therapy: Types, Techniques, and Applications

Gene therapy involves introducing DNA into a patient to treat genetic diseases by correcting disease-causing mutations. There are two types of gene therapy: somatic gene therapy and germline gene therapy, each with different implications. Techniques such as gene augmentation therapy and gene inhibit

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Understanding Functional GI Disorders: A Comprehensive Overview

Functional GI disorders encompass a range of conditions affecting the gastrointestinal system, such as irritable bowel syndrome and disorders of the gut-brain interaction. These disorders are characterized by no structural abnormalities but are influenced by factors like motility disturbance, viscer

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Understanding Gene Regulation and Control of Gene Expression

This comprehensive content delves into the intricate mechanisms of gene regulation and control of gene expression. It covers topics such as transcriptional regulation, bacterial genes classification, and the role of regulatory proteins. Explore how genes are regulated at transcription, translation,

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Understanding Gene Expression in Biological Sciences Course

Explore the dynamic world of gene expression with the Chunky and Chips Gene Expression Group at the University of Notre Dame. Dive into topics like transcription, translation, and cellular events influencing gene expression. Delve into real-world scenarios and gain insights into the cellular level b

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Understanding Genetic Disorders and Their Impact on Health

Genetic disorders are caused by abnormalities in genes or chromosomes, leading to various health conditions. Inherited disorders can be passed down from parents to children, affecting physical makeup and processes in the body. In India, there is a high prevalence of genetic disorders, particularly i

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Comprehensive Assessment of a Pathogenic CNV in a 2-Year-Old Male with Developmental Delay and Seizures

In this case study, a 2-year-old male presenting with developmental delay and seizures was evaluated for a CNV at the 12p13.1p12.3 region. The CNV was found to overlap with the GRIN2B gene, a known haploinsufficient gene associated with developmental disorders. Despite potential additional scoring c

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Understanding Eating Disorders: Types, Signs, Effects, and Recovery

Eating disorders are mental disorders characterized by unhealthy eating habits and can have severe physical and psychological consequences. This article explores the definition of eating disorders, signs to look out for, different types such as Anorexia Nervosa, Bulimia Nervosa, Pica, and Purging Di

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Understanding Eating Disorders: Insights for Dietitians

Eating disorders are complex neurobiological conditions that are not merely about control or weight management. These disorders can affect individuals of all genders, body sizes, and socioeconomic backgrounds. Dietitians play a crucial role in identifying, assessing, and treating eating disorders, a

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Understanding Eating Disorders: Medical Complications and Treatment

This presentation by Dr. Maria C. Monge covers the common eating disorders in teenage patients, potential medical complications, and the role of the medical team in treatment. It includes definitions of disorders like Anorexia Nervosa, Bulimia Nervosa, and Binge Eating Disorder according to DSM-5 cr

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Understanding Epistasis: Genetic Interactions and Their Implications

Epistasis is a phenomenon where the phenotypic expression of one gene is influenced by interactions with another gene. This concept, first introduced in 1909, plays a crucial role in genetics, affecting various traits and evolutionary processes. The difference between dominance and epistasis lies in

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Understanding Neurodevelopmental Disorders in Childhood and Adolescence

Neurodevelopmental disorders in childhood and adolescence encompass a range of conditions including intellectual disabilities, communication disorders, autism spectrum disorder, and attention deficit/hyperactivity disorder. These disorders impact cognitive development, adaptive functioning, and comm

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Understanding Sleep Disorders: Classification and Diagnosis

Sleep disorders encompass various conditions affecting sleep patterns and quality. They are classified into categories such as insomnia, sleep-related breathing disorders, central disorders of hypersomnolence, circadian rhythm sleep-wake disorders, parasomnias, and sleep-related movement disorders.

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Understanding Genetic Disorders and the Human Genome Project

The Human Genome Project, completed in 2003, aimed to identify all human genes and DNA sequences. Genetic disorders, like autosomal disorders and Huntington's disease, can result from mutations at different levels, affecting single genes, chromosomes, or multiple genes. Albinism and cystic fibrosis

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Gene Wiki Jamboree FaceBase Spring Meeting Summary

The Gene Wiki Jamboree FaceBase Spring Meeting in 2010 aimed to create collaboratively-written and community-reviewed review articles for every gene in the human genome and every concept relevant to FaceBase. It highlighted the value of such articles, providing quick summaries and compilations of re

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Raw Data of Agarose Gel for Human Gene Expression Analysis

This supplementary data includes raw data from agarose gel electrophoresis showing gene expression levels for human SOX17, FOXA2, AFP, ALB, and ACTB in various cellular samples. The gel images depict the expected sizes of amplicons for each gene in different conditions and time points of cell cultur

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Understanding Splice Sites and Splicing Elements in the Inhibitory Dopamine Receptor Gene (D2)

In this project, the focus is on identifying splice sites relevant to the inhibitory dopamine receptor gene (D2). The problem involves finding splicing elements within a specific range of known splice sites in the gene. The data provided includes the D2 gene entry in FASTA format, a database of spli

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Understanding Reverse Genetic Approaches in Gene Manipulation

Reverse genetic approaches involve mutating a target gene to observe its phenotypic effects, providing insights into the gene's normal function. Techniques like gene knockout, knockdown, and homologous recombination are used to manipulate genes and study genetic pathways, leading to discoveries in v

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Basics of Hypothesis Testing in Gene Expression Profiling

The lecture covers the essential aspects of hypothesis testing in gene expression profiling, emphasizing experimental design, confounding factors, normalization of samples, linear modeling, gene-level contrasts, t-tests, ANOVA, and significance assessment techniques. Practical insights are shared on

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Overview of Classification of Psychiatric Disorders

Psychiatric disorders are illnesses with various manifestations that impact functioning due to disturbances in biological, social, genetic, and other factors. Two key classification systems, ICD-10 and DSM-5, categorize over 200 types of psychiatric illnesses. The ICD-10 includes categories like org

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Overview of Genetic and Congenital Disorders and Their Causes

Explore the terminology, causes, characteristics, and results of genetic and congenital disorders, as well as the disorders of single-gene inheritance. Learn about autosomal dominant disorders like Marfan Syndrome and Neurofibromatosis. Discover how single-gene disorders are inherited and their impa

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Basics of Genetics Engineering: Introduction to DNA and Gene Expression

Exploring the fundamentals of genetics engineering, this lecture covers topics such as DNA structure, gene expression, gene function, genome, mutation, recombination, and genetic modification. Understand the significance of DNA, genes, and the processes involved in gene expression. Dive into the wor

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Understanding Expression Vectors for Efficient Gene Expression

Expression vectors are designed to facilitate gene expression by carrying essential elements such as promoters, terminators, and fusion tags. They allow precise control over gene regulation for transcription and translation in host cells, enabling efficient protein production. Different promoters li

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Understanding Childhood Functional Gastrointestinal Disorders

Functional Gastrointestinal Disorders (FGIDs) in children and adolescents are characterized by chronic or recurring symptoms that cannot be fully explained by current structural or biochemical tests. These disorders emphasize the role of normal development in symptom presentation and the lack of evi

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Cloning the Cstps-1 Gene from Citrus sinensis for Valencene Production

In this project, the Cstps-1 gene from Citrus sinensis is being cloned to produce the enzyme Citrus Valencene Synthase (CVS) responsible for generating the fragrant valencene compound. The process involves DNA isolation from a Valencia orange, gene amplification, vector transformation, and testing f

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Understanding the Role of Multiple Enhancers in Gene Regulation

Multiple enhancers play a crucial role in regulating gene expression in a cell, with approximately 3-5 enhancers associated per human gene. These enhancers are essential for tissue-specific expressions and are active within the same cell line. The use of multiple enhancers can impact gene expression

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Understanding Chromosomal and Gene Mutations in Genetics

Chromosomal and gene mutations play a crucial role in genetic variations. Mutations such as insertion, deletion, and substitution can lead to significant changes in DNA sequences, affecting gene expression and cellular functions. Additionally, chromosomal mutations like deletion, amplification, inve

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Advances in Gene Therapy Programs and Best Practices Workshop Insights

Workshop outcomes and discussions from the MDA-NINDS Workshop on Best Practices for Gene Therapy Programs, highlighting key challenges, possible solutions, and the impact on translational funding programs. The workshop format included orienting talks and panels focusing on scientific premise, regula

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