Genetic disorders - PowerPoint PPT Presentation


Genetic Testing in Chronic Kidney Disease (CKD): Insights and Applications

Genetic testing plays a crucial role in identifying inherited kidney diseases, with around 15% of CKD cases having monogenic causes. Despite a high percentage of patients reporting a family history of CKD, Mendelian causes only account for about 10% of adult ESRD cases. Understanding the genetic bas

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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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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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Exploring Genetic Engineering: From Basics to Applications

Genetic engineering involves altering the genetic material of organisms to achieve desirable traits. This process entails cutting out specific genes from one organism and transferring them to another. In medicine, genetic engineering finds applications in gene therapy, hormone production, and vaccin

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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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Understanding Genetic Markers in Molecular Mapping

Genetic markers play a crucial role in gene mapping within molecular biotechnology. They are fragments of DNA associated with specific genomic locations, aiding in identifying DNA sequences and analyzing genetic variation. Various types of genetic markers such as RFLP, SSR, and SNP offer insights in

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Understanding Genetics: Mutations, Chromosomal Aberrations, and Genetic Engineering

Genetic mutations can be harmless, harmful, or beneficial, leading to variations within a species. Examples of gene mutations and chromosomal aberrations, like Trisomy 21, illustrate genetic abnormalities. The increase in Down Syndrome cases with maternal age highlights a maternal age effect. Geneti

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Exploring Genetic Engineering: A Journey into Manipulating Organisms

Delve into the world of genetic engineering, where organisms' genetic makeup is altered for various purposes. Discover the process of modification, the history of genetic manipulation, and the impact of genetically modified organisms on society and science.

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Improving Microbial Productivity and Characteristics for Industrial Applications

Efforts to enhance the productivity of natural isolates for commercial products involve genetic modifications through mutation, genetic recombination, and genetic engineering techniques. Desired characteristics include genetic stability, efficient production, versatility in carbon sources, and ease

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Classification and Genetic Defects of Diabetes

The diagnosis and differential diagnosis of Type 1 and Type 2 diabetes are discussed, detailing the clinical courses, age of onset, body weight characteristics, onset patterns, and genetic factors. The etiologic classification of diabetes including insulin-deficient, immune-mediated, monogenic, and

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Evolution of Plant Improvement: Domestication to Genetic Modification

Plant improvement has evolved through different eras - from ancient domestication to the Green Revolution and genetic modification. Domestication shaped major crops over millennia, the Green Revolution introduced high-yielding varieties, and genetic modification allows direct genetic alterations for

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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 Genetics: Part 2 - Cystic Fibrosis, Family Pedigrees, and Sex-Linked Genetic Disorders

Genetics is a fascinating field that influences our health and traits. Part 2 of our guide explores topics such as cystic fibrosis, family pedigrees, and sex-linked genetic disorders. Learn about the inheritance patterns, carrier statuses, and implications of these genetic conditions through detaile

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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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Understanding Bacterial Transformation in Molecular Biology

Transformation in molecular biology is a process where genetic material is altered by the uptake of exogenous DNA. It involves the direct incorporation of genetic material into a cell, leading to genetic changes. This phenomenon was first demonstrated by Frederick Griffith in 1928. The process of tr

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Understanding Genetic Counselors and the NSGC

Genetic counselors play vital roles in healthcare by assisting patients with genetic conditions, advocating for their needs, educating providers, conducting research, and influencing public policy. The National Society of Genetic Counselors (NSGC) supports genetic counselors in their professional en

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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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Genetic Carrier Screening for Recessive Disorders by GENDIA, Antwerp, Belgium

Explore the world of genetic carrier screening offered by GENDIA in Antwerp, Belgium. Learn about prenatal screening for various genetic disorders, including Down syndrome and severe monogenic disorders. Discover the frequency of common recessive disorders and the severity of genetic diseases. Uncov

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Genetic Screening and Reproductive Carrier Testing in New Zealand Fertility Clinics

Genetic screening and reproductive carrier testing play crucial roles in identifying and managing genetic disorders in couples planning for pregnancy. While carrier screening is recommended for all couples, it is not widely followed in New Zealand. Pre-conceptual reproductive carrier screening is no

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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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Understanding the Key Articles of the Nagoya Protocol on Access to Genetic Resources and Benefit-Sharing

The Nagoya Protocol aims to promote fair sharing of benefits from genetic resources utilization for conservation efforts. It encompasses access, technology transfer, funding, and respect for rights over resources and technologies. The protocol applies to genetic resources, traditional knowledge, and

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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 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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Evolutionary Computation and Genetic Algorithms Overview

Explore the world of evolutionary computation and genetic algorithms through a presentation outlining the concepts of genetic algorithms, parallel genetic algorithms, genetic programming, evolution strategies, classifier systems, and evolution programming. Delve into scenarios in the forest where gi

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Understanding Grief and Depressive Disorders: A Comparative Analysis

Grief and depressive disorders share similarities but also have distinct differences. Grief is a universal emotional state following loss, while depressive disorders involve prolonged mood disturbances. The stages of grief include denial, anger, bargaining, depression, and acceptance, with intervent

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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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Understanding Abnormal Psychology: Disorders, Symptoms, and Treatments

Explore the world of abnormal psychology through the lens of different disorders like depression, anxiety, and phobias. Learn about the definitions of abnormal behavior, DSM-V classifications, and various types of psychological disorders. Delve into the complexities of mental health conditions such

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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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Understanding Patterns of Inheritance and Genetic Disorders

Explore the fascinating world of patterns of inheritance through pedigrees, analyzing traits in humans, and understanding disorders determined by single genes. Delve into autosomal recessive diseases, autosomal dominant disorders, Mendel's assumptions, and exceptions to those assumptions. Discover p

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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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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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Overview of HL7 V2 Genetics Messaging and LOINC Genetic Testing Codes

This content delves into the proposed HL7 V2 genetics message, NLM forms builder, UCUM validator, and the current state of genetic testing codes in LOINC. It discusses the types of molecular genetic tests present in LOINC and the evolution towards newer genetic tests. The content also covers how LOI

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Overview of Psychiatric Pharmacology: A Comprehensive Guide from 2013

This presentation delves into the nuances of psychiatric pharmacology, exploring common psychiatric conditions, historical perspectives on medical treatments, categories of psychiatric medications, and principles of treatment. It also touches on mental illness definitions from DSM-IV-TR and DSM-V, a

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Understanding Mental Health Disorders: Bipolar Disorder, Anxiety Disorders, & More

Exploring various mental health disorders such as Bipolar Disorder, Anxiety Disorders, Generalized Anxiety Disorder, Panic Disorder, and Phobic Disorders. Learn about their symptoms, prevalence, and impacts on individuals' lives.

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Understanding GWAS: A Brief Overview of Genetic Association Studies

GWAS, or Genome-Wide Association Studies, are a method used to map genes associated with traits or diseases by analyzing genetic markers throughout the genome. This process involves statistically testing the association between SNPs and traits using regression or chi-squared tests in a hypothesis-fr

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DNA Editing of Retrotransposons and Mammalian Genome Evolution

Large-scale DNA editing of retrotransposons plays a crucial role in accelerating mammalian genome evolution. Retrotransposons, accounting for half of the human genome, are mobile elements that can lead to mutations and genetic disorders but also serve as a reservoir for genetic innovation, rewiring

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Genetic Architecture of Smoking Behavior Traits: Meta-Analysis Insights

Exploring the genetic basis of smoking behavior-related traits through a meta-analysis combining data from three large consortia across 58 different cohorts/datasets. The study investigates genetic variants associated with cigarettes per day, pack years, smoking initiation, and smoking cessation. Ov

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