Module 1: Lesson 3 – Genes, Genome Structure and Function


Name: Prof Samar Kassim
Affiliation: Faculty of Medicine, Ain Shams University,
Location: Cairo, Egypt

Dr. Samar Kamal Kassim is a Professor of Medical Biochemistry & Molecular Biology & Director of the Oncology Diagnostic Unit in the Faculty of Medicine, Ain Shams University, Abbasseya, Cairo, Egypt. Upon completion of her doctorate in Medical Biochemistry & Molecular Biology, thesis titled “Biochemical Studies Based on Signal Transduction by C-erbB-2 gene Product”, Duke University Medical Center, Durham, NC, she published many articles in the area of cancer diagnosis (Mansour et al, 2012, Eissa et al, 2011, Eissa et al, 2005, Kassim et al, 2004, etc.) where she helped establishing detection systems for many epithelial tumors. At 2002, she joined Glasgow Caledonian University where she identified the differences between breast and ovarian cancers in the Androgen receptor gene methylation and exon one CAG repeat length (Kassim et al, 2004). She joined important research in the molecular events accompanying hepatitis C viral infections among Egyptian patients (Hassan et al, 2007, and Hassan et al, 2002). Dr. Kassim published a large longitudinal study in the American Journal of Gastroenterology about the Host and viral determinants of the outcome of exposure to HCV infection genotype 4 (Kamal et al, 2014). She shared the development of Bioinformatics Master and undergraduate programs in Helwan and Ain Shams Universities. She is the Co-PI of the Egyptian node of H3ABioNet Pan-African Network.


Name: Dr Seile Yohannes
Affiliation: Jijiga University
Location: Jijiga, Ethiopia

Seile Yohannes is the capacity building and partnership development officer at the university of Jigjiga, Ethiopia. Having graduated his BSc in Biology at Addis Ababa University, he was one of the few from his batch to be selected by the Ministry of Education to be hired at one of the national universities. He then got an opportunity to pursue his MSc in Genetics at the Addis Ababa University. His master’s research focus included an array of human population genetic topics, which primed his interest in human genetics. Thereon, he has been striving to keep up with the fast pace of the dynamic field of genetics albeit the very limited resources available for advanced molecular tools in the Africa Setting. He is the initiator for the establishment of the Ethiopian Society for the Developmental Origins of Health & Disease, and is also the acting president of the society currently under establishment. He has served as a principal and/or Co-investigator in several research activities related to Non-Communicable Disorders. He is currently the principal investigator of the “Hooyo” (“Mother/Maternal”) Clinical & Biomedical Research Initiative of the Somali Regional State of Ethiopia, which entails two core-infrastructures and one community outreach sub-project. This project, funded by the University of Jigjiga, is anticipated to establish the first large-scale cohort network and also the first national human biobank in Ethiopia. He is also one of the two founders of the international conference entitled: “Narrowing the Disparity Gap Among Marginalized Populations of Africa,” which focuses on a broad array of scientific fields such as the effects of nutrition on health, and anticipated to hold its second event in December 2017 in collaboration with Texas Tech University.

This session will introduce participants to genes, genome structures and gene function. The lecture will cover different types of DNA mutations arise and how they can affect production and function of the protein coded for by the genes. A DNA mutation which results in Sickle Cell Disease will also be highlighted as an example. In addition other types of genetic “mistakes” will also be highlighted. The interaction of the environment and genetics will also be briefly discussed.

Learning Outcomes
● Explain and simplify basic genetic terms such as genes, allele, chromosome, function and genetic mutations.
● Describe the major forms of human genetic variation (e.g., nucleotide changes to copy number changes)
● Describe the difference between germline and somatic genetic changes
● Explain the concept of epigenetics and the role of environmental exposures in modifying patterns of gene expression.

Class Videos

Module 1_Lecture 3_Video2_Seile_Johannes
Module 1_Lecture 3_Video3_Seile_Johannes
Module 1_Lecture3_Video4_Seile_Johannes

Class Slides

Assessments – Pre-Class Exercise
Question 1: Visit the websites below$baseURL;%20?%3E/mutations_02$baseURL;%20?%3E/mutations_03$baseURL;%20?%3E/mutations_06
Credit: Understanding Evolution. 2017. University of California Museum of Paleontology. 22 August 2008 <>.

What are the building blocks of proteins?
What molecule is known as the genetic code?
What is the base change at DNA level that causes Sickle Cell Anemia?

Assessments: Class Exercise
Question 1: Please read about Down Syndrome and Turner Syndrome below
Chromosomal Inheritance
Turner Syndrome

a) What is the difference between mosaic and classical Turner syndrome?
b) What chromosomal change leads to Down Syndrome?

Question 2: In your groups or pairs, agree on a consensus simplified description of terms you could use for your patients. If time permits also translate these terms into languages of your choice.

a) DNA b) Gene c) Allele d) Genome e) Mutation


Class Evaluation
See course evaluations section.

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Extra Material
Where do genes come from? (4.20 minutes) Credit to Khan Academy and 23andMe

Synthesis of DNA to protein (7 mins) Credit to Amoeba Sisters

How does DNA lead to a trait/Phenotype? (2 mins) Credit to Khan Academy and 23andMe
How many chromosomes exist in sex cells and in somatics cells? (2.42) Credit to Teacher’s Pet
Mistakes/mutation can happen during mitosis or meiosis – What are mutations? (7.42)Credit to The Amoeba Sisters
What is epigenetics? (3:20 mins) Credit to UW EDGE Center