MedShare

Advanced Search

Items where Subject is "Human Genetics"

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Number of items: 77.

A case of two brothers with primary immunodeficiency

Slides accompanying SBoM session on genomics, looking at the clinical presentation and genetic diagnosis for an example case

A clinical geneticists view on the revolution in personalised medicine

Slides accompanying SBoM session on genomics, exploring issues and implications for clinical genetics

Applications of next generation sequencing in cancer

Slides accompanying SBoM session on genomics, looking at applications of next generation sequencing (NGS) in diagnosis, prognosis, treatment and monitoring of caner

Chromosomes and chromosome abnormalities

Slides accompanying lecture covering: techniques of chromosome analysis and its use in clinical practice; normal functions of chromosomes; different types of chromosome abnormality

Chromosomes and chromosome abnormalities - 'visible' genomics

Slides accompanying second lecture on genetic investigations in a clinical setting

Cleft palate and lip - neural tube defect questions

Slides accompanying symposium on baby with malformations

Congenital abnormality - a clinical genetic perspective

Lecture notes accompanying session on birth malformations

Congenital disorders week morning video discussion

Please print out\ download and bring to the session. There are spaces to make notes on the video material we will be watching and also the questions to be discussed in groups

Cytogenetic reports

Three sample cytogenetic reports, accompanying genetics tutorial

Downs week screening discussion

worksheet to bring on the day

Embryology - why is it relevant?

Lecture slides accompanying session on embryonic development and its relevance to clinical medicine

Familial Hypercholesterolemia

Telling stories resource

Familial hypercholesterolaemia

Telling stories resource

Gametogenesis to implantation

Slides accompanying lecture on gametogenesis, fertlisation and implantation

Genes and cancer

Slides accompanying lecture on genes and cancer, covering: cell growth and division; multistep process of carcinogenesis; common and rare genetic variations and cancer

Genes and cancer

Notes accompanying lecture giving an overview of how gene mutations both inherited and somatic contribute to cancer development and progression

Genes and the nervous system

Slides accompanying lectyure covering: the different forms of chromosomal and molecular genetic abnormality; the major clinical manifestations and management issues of neurogenetic diseases

Genetic investigation in a clinical setting - lecture 1

Slides accompanying lecture covering: the scale of the genome challenge; why genetic analysis can aid clinical diagnosis; DNA scanning; genome, exome, chromosome, epigenome

Genetic investigation in a clinical setting - part 3

Slides accompanying lecture describing DNA tests and how these can be used for diagnosis and treatment in clinical practice

Genetic kidney diseases

Slides accompanying lecture covering: autosomal dominant polycystic kidney disease (ADPKD) and Alport disease

Genetic medicine

Slides accompanying genetics lecture, discussing a range of case histories and considering the ethical issues involved

Genetic testing in families

Slides accompanying 2014 lecture on genetic testing in families

Genetic testing in pregnancy

Lecture notes accompanying session on testing for genetic disorders in pregnancy

Genetics - Additional Notes on Non-Mendelian inheritance I and II

Handout accompanying lectures on non-Mendelian genetics, covering: mitrochondrial inheritance; gene imprinting; polygenic or multifactorial inheritance; mosaicism; dynamic mutations and repetitive DNA

Genetics - Calculation of recurrence risk

Slides demonstrating the calculation of recurrence risk, using the example of cystic fibrosis

Genetics - Inheritance patterns in families, examples and simple risk calculations.

This is a page taken from the web page. https://www.som.soton.ac.uk/learn/humangenetics/question1.htm Additional web links lead from this document.

Genetics - Mutations causing disease

Handout accompanying lecture on mutations, summarising the different types of mutations and their molecular consequences

Genetics - Mutations causing simple patterns of inheritance

Slides accompanying lecture on mutations, using the examples of cystic fibrosis, Duchenne muscular dystrophy and osteogenesis imperfecta

Genetics - Non-Mendelian patterns of inheritance I

Slides accompanying first lecture on non-Mendelian genetics, covering: mitochondrial inheritance; dynamic mutations (trinucleotide repeat expansions); mosaicism

Genetics - Non-Mendelian patterns of inheritance II

Slides accompanying second lecture on non-Mendelian genetics, covering: X-activation; gene imprinting; risk calculation

Genetics - Patterns of inheritance in families

Slides accompanying lecture identifying common patterns of inheritance in families, and why this is important

Genetics Course Booklet Year 1 BM5

This is a booklet that has been prepared by the lecturers on the BM5 genetics course, that should be used in addition to the genetics lectures. It is complementary and includes material that is discussed in specific lectures, but also additional material.

Genetics Course Booklet Year 2 BM5

Semester 3 and 4 - introduction to Human Genetics vertical thread in the BM Course

Genetics Revision Lecture Year 1

Powerpoint presentation for Genetics Revision Lecture Year 1. During the lecture elements of the presentation will be discussed, it is not anticipated that all aspects will be discussed during the lecture. An invitation for students to ask which aspects of year 1, do they wish to revise. This presentation is NOT a comprehensive over view /revision session for the whole year, but elements of it.

Genetics Tutorial BM5 Year 1

Handout to print out and bring to the tutorial

Genetics of colorectal cancer

Slides accompanying symposium on colorectal cancer, covering the basics of cancer genetics and the inherited types of colorectal cancer

Genetics revision

Slides accompanying genetics revision session

Medical genomics

Slides accompanying SBoM session on genomics, introducing next generation sequencing technology and applications

Mendelian inheritance

Slides accompanying lecture on genetic inheritance

Molecular genetics of obesity

Slides accompanying lecture describing how the interplay between hormones of the orgexigenic and anorexigenic pathways enables weight regulation, and the mutations that result in obesity

Nerve cells and response to injury

Slides accompanying lecture covering: neuroglia in the CNS and PNS; nerve cell injury; types of neuronal damage; degeneration and regeneration

Pompe's disease worksheet

Worksheet for genetics tutorial, using the Pompe's disease virtual patient

Practical impact of Downs syndrome, development and associated conditions 2016

Powerpoint lecture, practical impact of Downs syndrome, Child development, milestones and associated conditions

Presymptomatic cascade testing in families

Additional slides used in lecture on screening for genetic diseases

Psychiatry revision lecture

psychosis, mood disorders, anxiety, alcohol, autism, ADHD - overview and some questions. Please note, this is not a comprehensive summary, rather a memory aid. Note there is no old age psychiatry included in this lecture, but you should revise this as well.

Psychosis

An introduction to the psychotic illnesses Their aetiology, presentation, and the stigma surrounding them

Screening for genetic diseases

Updated lecture slides March 2015

Screening for genetic diseases - notes

Lecture notes accompanying session covering: the differences between a screening test and diagnostic test; advantages and disadvantages of a screening programme; preborn, newborn and adult genetic screening tests; cascade screening

Screening for genetic diseases - slides

Slides accompanying session covering: the differences between a screening test and diagnostic test; advantages and disadvantages of a screening programme; preborn, newborn and adult genetic screening tests; cascade screening

Taking and drawing a family history

Slides covering: the importance of a genetic family history; international symbols used to illustrate a pedigree; tips on drawing a pedigree

Testing for genetic disorders in pregnancy

Slides accompanying lecture discussing different cases in relation to testing for genetic disorders in pregnancy

The building blocks of life - FAQs

Answers to frequently asked questions relating to cell biology lectures on DNA, RNA and protein

The building blocks of life - course information

Overview of the series of lectures on cell biology and clinical genetics, providing an introduction to the basic building blocks of life: nucleic acids and proteins.

The building blocks of life 1: Introduction and DNA structure

Lecture slides accompanying introductory session from series on DNA, RNA and proteins

The building blocks of life 2: DNA replication

Lecture slides accompanying second session from series on DNA, RNA and proteins

The building blocks of life 2: DNA replication - with notes

Annotated lecture slides accompanying second session from series on DNA, RNA and proteins.

The building blocks of life 3: What are genes?

Lecture slides accompanying third session from series on DNA, RNA and proteins

The building blocks of life 3: What are genes? - with notes

Annotated lecture slides accompanying third session from series on DNA, RNA and proteins.

The building blocks of life 4: RNA processing and translation

Lecture slides accompanying the fourth session from series on DNA, RNA and proteins

The building blocks of life 4: RNA processing and translation - with notes

Annotated lecture slides accompanying fourth session from series on DNA, RNA and proteins

The building blocks of life 5: The genetic code and protein synthesis

Lecture slides accompanying fifth session from series on DNA, RNA and proteins

The building blocks of life 5: The genetic code and protein synthesis - with notes

Annotated lecture slides accompanying fifth session from series on DNA, RNA and proteins

The building blocks of life 6: protein structure

Lecture slides accompanying sixth session from series on DNA, RNA and proteins

The building blocks of life 6: protein structure - with notes

Annotated lecture slides accompanying sixth session from series on DNA, RNA and proteins

The building blocks of life 7: Regulation of gene expression

Lecture slides accompanying seventh session from series on DNA, RNA and proteins

The building blocks of life 7: Regulation of gene expression - with notes

Annotated lecture slides accompanying seventh session from series on DNA, RNA and proteins

The building blocks of life 8: Molecular basis of human disease

Lecture slides accompanying eighth session from series on DNA, RNA and proteins

The building blocks of life 8: Molecular basis of human disease - with notes

Annotated lecture slides accompanying eighth session from series on DNA, RNA and proteins

The case of a small boy with a complex presentation - ethical aspects of additional findings

Slides accompanying SBoM session on genomics, discussing the application of NGS technologies in a boy presenting with aHUS

The genetic and cellular basis of ageing

Slides accompanying lecture on the mechanisms of ageing; longevity genes; how genes influence ageing; syndromes of premature ageing. Also two papers for further reading.

The genetics of dementia

No description.

Ups not Downs

Link to a video showing the life of a young boy with Downs syndrome and his Family

What to say and what not to say in Down's Syndrome

A glossay of commoonly used acceptable terms produced by the Down's Syndrome Association

Whole exome sequencing applied to idiopathic Fanconi syndrome

Slides accompanying SBoM on Genomic medicine

Year 2 ELC Module Genetics Tutorial

This worksheet accompanies the genetics tutorials taking place during the ELC module.

This list was generated on Mon Sep 25 00:26:15 2017 BST.