Genetics of Human Diseases
Take part in one of the four “ Genetics of Human Diseases” simulations , and you will soon master the techniques needed to work in a medical genetics lab. This package offers you the following 4 simulations:
Learn about the monogenic disorder Cystic Fibrosis and its inheritance from one generation to the next.
Help a mother-to-be who is extremely worried about the fate of her baby. Will you able to diagnose the condition of the fetus using a cytogenetics-based approach?
Learn about Mendelian genetics, linkage analysis, hereditary cancer, tumor suppressor, oncogenes and how to identify a defective gene in a family.
Viral Gene Therapy
Take advantage of the recent exciting research findings in the field, and try to develop a potential cure for heart failure. Will you be able to design a virus to help revert heart failure in patients?
About the Monogenic Disorders Virtual Simulation Lab:
Cystic Fibrosis is a type of monogenic disorder caused by a mutation in both copies of the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator).
Learn about Cystic Fibrosis
The CTFR gene encodes a protein that regulates the movement of chloride ions in and out of cells that produce mucus, sweat, saliva, or tears. Cystic Fibrosis is also called mucoviscidosis because patients suffer from thickened mucus. People with one mutated copy of the CFTR gene are called carriers and do not experience any symptoms.
Patients with Cystic Fibrosis
Cystic Fibrosis is the most common autosomal recessive disease among Europeans. It is characterized by allele heterogeneity, meaning that CFTR genes from many different patients with Cystic Fibrosis show different type of mutations. The most common alteration in the CFTR gene is a deletion of three nucleotides, resulting in a loss of the amino acid phenylalanine (F) at position 508 in the protein, and is hence called ΔF508.
Apply your knowledge
In the Monogenic Disorders lab, you will learn about the monogenic disorder Cystic Fibrosis and its inheritance from one generation to the next. You will also learn how a single gene mutation leads to a dysfunctional, disease-causing protein.
Will you be able to consult a young couple on the potential risk for their future children to develop Cystic Fibrosis?
About the Cytogenetics Virtual Simulation Lab:
With advances in technology, prenatal diagnosis can provide mothers-to-be with information, not only about the gender of their baby, but also the physical and genetic health. Will you be able to use advanced prenatal techniques to help diagnose a fetal abnormality?
Ultrasound and amniocentesis
In the Cytogenetics simulation, you will begin your mission in an ultrasound examination room where a young mother-to-be receives an abnormal ultrasound result. Your task is to find the underlying cause and to inform her about possible outcomes for her unborn child and any potential future children.
Array comparative genomic hybridization
In order to find the underlying cause of the abnormality, you will perform Array Comparative Genomic Hybridization (Array CGH) using an amniocentesis sample which you isolated previously. You will learn the basic principles of Array CGH and how to analyze the results. In order to confirm your findings, you will also perform karyotyping on both fetal and parental samples. You will learn how to prepare amniocentesis and blood samples for karyotyping, as well as how to analyze the results.
Based on the results and information collected during the counseling with the parents, you will identify the underlying cause of the fetal abnormality. Your final task is to explain this and the associated medical condition to the mother, before advising her about future risks.
About the Medical Genetics Virtual Simulation Lab:
In the Medical Genetics Lab, you will learn about Mendelian genetics, linkage analysis and finding the defected gene in a family with hereditary breast cancer. You will also learn about the genetics and development of cancer.
Your first task is to construct a family pedigree based on gathered information. You will learn how to read a family pedigree and determine whether or not traits are hereditary. You will take a visit to the hospital and talk with a doctor to learn about hereditary cancer, Knudson two hits hypothesis and identifying genes that cause hereditary breast cancer a family.
Next, you will arrive in the laboratory to begin experimentation. You will begin with a linkage analysis using four microsatellite markers that are located close to BRCA1 and BRCA2 genes. Then you will perform PCR to amplify the microsatellite markers and analyze their genotype using gel electrophoresis. Analyzing the genotypes from family members, you will be able to determine which gene is linked to hereditary breast cancer in this family.
Protein Truncation Test
In breast cancer, mutations in BRCA1 or BRCA2 genes often result in protein truncation. In order to check if there is a mutation in BRCA1 or BRCA2 genes, you will perform Protein Truncation Test (PTT) comparing protein synthesized from the patient’s DNA versus a healthy control. By comparing the resulting protein in polyacrylamide gel electrophoresis, you will be able to conclude whether the patient has a truncated protein.
After receiving the PTT result, you need to perform a validation experiment to find out the exact mutation causing the truncated protein. You will perform DNA sequencing of this specific gene and analyze the results. To complete the analysis, you will perform a validation experiment to find the exact mutation causing truncated proteins. You will perform DNA sequencing of this specific gene and analyze the results.
Cancer: from DNA to metastasis
The Medical Genetic lab ends with a series of quiz questions assessing uour comprehension in topics regarding cancer, oncogenes, tumor suppressor and DNA repairs. Supplementary 3D animation is provided to visually portray cancer progression—defective cells divide uncontrollably and form lumps giving rise to breast cancer and subsequently metastasize to distant tissue in the body.
About the Viral Gene Therapy Virtual Simulation Lab:
Does using viruses as a form of therapy sound like science fiction to you? This may come as a surprise, but it’s actually a technique on the rise used to deliver functional genes into patients. In the Viral Gene Therapy simulation, you will learn about the use of modified viruses and how to equip them with therapeutic genes. Take advantage of the recent exciting research findings in the field, and try to develop a potential cure for heart failure. Will you be able to design a virus that can help to revert heart failure in patients?
Using viruses to cure heart failure
The student will attend a seminar highlighting the causes and symptoms of heart failure, and will have to use gene therapy as a promising way for a treatment based on a particular gene. The student will learn the principles behind the concept of gene therapy and pseudovirus production, and apply them to the present study case of heart failure.
Pseudovirus production and testing
The student will perform a fitness test with mice to validate a gene as a therapeutic target for gene therapy. Next, they will have to produce the viral capsids containing the therapeutic gene through transfection of the relevant plasmids and observe them through an electron microscope. Finally, the efficiency of the produced viruses will be tested on mice again. Since this is a virtual lab, no real animals will be harmed in this experiment, and results are available immediately compared to the expected 5 weeks of incubation.
Test your gene therapy treatment
Once you have designed your gene therapy treatment and produced your viruses containing a therapeutic gene, it will be time to test it on mice affected with heart failure. Will you be able to find a cure for this genetic condition?
For detailed information please contact:
Director Distance Learning
Tel.: +49 (0) 6221 487 8061
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Date | Price | Audience
Package: 4 courses
Time to complete course:
30 - 50 min
please contact Merlet Behncke-Braunbeck
Start possible at any time
Companies can book this course for their employees directly at Springer Campus.