Many
human diseases can be attributed to inherited mutations in single genes. The
phenotypes of the genetic disorders vary from mild effects to severe impairment
and lethality. Lectures will focus on understanding the genetic basis of each
disorder, the function of the normal protein product of each gene, and how changes
to or loss of these proteins disrupt normal cellular processes.
Note: Clinical diagnosis procedures and treatments of the diseases
will NOT be covered, but printed information about the diseases will be handed out. This basic science lecture course will focus only on the nature of the genetic mutations and how these changes in DNA sequence result in a disruption of protein structure/function at the cellular level.
Image from Genetics Home Reference at the National Library of Medicine (http://ghr.nlm.nih.gov/)
Course Syllabus:
Wednesday, January 18, 2006: Optional introductory lecture
This lecture will provide an overview of fundamental topics in cell biology
and genetics that will be referred to during the course. Topics to be covered
include cellular structure, DNA structure, and the flow of information from
gene to protein. The diseases we will study affect a wide-range of biological
processes in cells. The lectures each week will introduce different systems
in the human body and highlight different aspects of protein function at the
cellular level.
Wednesday January 25, 2006: Cystic fibrosis
Cystic fibrosis, one of the most common diseases in the United States Caucasian
population, results from the disruption of chloride ion transport across cellular
membranes. We will discuss how proteins are made and localized in specific cellular
compartments and how cells regulate transport of materials in and out of the
cell.
Wednesday February 1, 2006: Sickle Cell Disorder
Sickle cell disease is one of the most common diseases in African American populations.
It is a disorder that primarily affects red blood cells due to abnormal folding
of a protein that carries oxygen in the bloodstream. Interestingly, carriers
of the diseased gene have some reduced risk of getting malaria. The lecture
topics will include both abnormalities in hemoglobin structure and function
as well as the cellular basis for the apparent protection from the malarial
parasite.
Wednesday February 8, 2006: Hemophilia
Hemophilia is a bleeding disorder that is due to a deficiency in one of the
proteins that functions to clot blood. The genes for Hemophilia A and Hemophilia
B are located on the X chromosome, and the diseases show a sex-linked pattern
of inheritance. These clotting factors are secreted by cells into the external
environment in order to assist other proteins in stopping blood flow. Most of
the lecture will focus on hemophilia A, which is caused by a deficiency in the
activity of clotting factor VIII.
Wednesday February 15, 2006: Muscular Dystrophy
Muscular dystrophy collectively refers to several inherited diseases that disrupt
muscle and/or motor neuron function. Most of the lecture will focus on Duchenne
Muscular Dystrophy (DMD). The DMD gene encodes dystrophin, one of the largest
proteins known. The lecture will cover the structure of the gene and the predicted
function of the dystrophin protein in muscle cells.
Wednesday February 22, 2006: Huntingtons Disease
Huntingtons Disease is a neurological disorder whose symptoms usually first
appear in middle age. In older adults the huntington protein forms clumps in
nerve cells in parts of the brain, resulting in neurological impairment and
death of some cells. The lecture will cover some unusual structural aspects
about the huntington protein and the process of cell death.
Wednesday, March 1, 2006: Retinoblastoma
Retinoblastoma, cancer of the eye, is one of the first cancers to be associated
with a specific genetic mutation. Retinoblastoma can also occur sporadically,
meaning that there is no known family history or inherited genetic mutation.
Using this disease as an example, the lecture will cover general issues in the
relationship between inherited predisposition to cancer and cancer development.
Delaware Valley Chapter of the Cystic Fibrosis Foundation
Cystic Fibrosis Foundation
The Boomer Esaison Foundation
Sickle Cell Disease Association of America, Philadelphia/Delaware Valley Chapter (SCDAA/PDVC)
Sickle Cell Disease Association of America
American Sickle Cell Anemia Association
Delaware Valley Chapter of the National Hemophilia Foundation
National Hemophilia Foundation
World Federation of Hemophilia
Muscular Dystrophy Association of America
Retinoblastoma International
Childhood Eye Cancer Trust - a United Kingdom Non-profit Organization
Resources for general background in genetics and health
“Genetics Home Reference
– Your Guide to Understanding Genetic Conditions” - A publication
from the National Library of Medicine
Choose the above link to download the 112 page handbook (2.6 Mb pdf file) on
genetics, molecular biology, genetic testing, gene therapy, and applications
of genomics to medicine.
"Genetics Home Reference provides free access to consumer-friendly
information on medical genetics to patients and their family members, health
care professionals, and the public. The site offers summaries for a broad range
of inherited conditions or disorders caused by gene alterations. Each condition
summary includes the causes, available genetic testing, and links to summaries
on related genes. Descriptions of genes include gene names and their synonyms,
normal function, chromosome location, and an explanation of any disorder-causing
mutations."
National Human Genome Research Institute - Section on Health - Information about genetic and rare diseases, and genetic research to improve health
National Human Genome Research Institute - "Home page of the National Human Genome Research Institute, the arm of the U.S. National Institutes of Health dedicated to advancing human health through genetic research." Access to recent news in research, education, public policy, and legislation.
Genetic Alliance: Advocacy, Education, Empowerment - Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and healthcare organizations that represent millions of individuals with genetic conditions and their interests. As a broad-based coalition of key stakeholders, this non-profit organization leverages the voices of millions of individuals living with genetic conditions.
Return to the homepage for the Genetics Series at the Wagner Free Institute of Science
Latest update: January 9, 2006
Questions? Email Mary Beth Davis.