BTEC 3301 Lecture Notes - Lecture 1: Bibliographic Database, Online Mendelian Inheritance In Man, Dbsnp
4 May 2018
School
Department
Course
Professor
Tay-Sachs disease (gene) HEXA Insertion/Point Mutation
BTEC 3301
Research Project – Task 1
Due Sunday, Oct 8 at 11:59 am
SUBMISSION: Use TurnItIn Link on Blackboard
Disease Fact Sheet Assignment
The goal of this assignment is to conduct a literature and OMIM search on the epidemiology of a genetic disease. Look at
Blackboard Learn under “Research Project” for your assigned disease (we will try to focus on single gene disorders).
What is a fact sheet?
A fact sheet provides meaningful information about a topic in a format that is extremely brief and easy to read. Experts
use them to summarize the “state of the art” about the topic. Fact sheets are used to provide an overview, to provide
recommendations and advice, and sometimes to convince the reader to change their behavior. The focus is on providing
what is essential and presenting the information in a way that is visually appealing and accessible.
See Examples of fact sheets
Fact Sheet Format for This Assignment
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DO NOT INCLUDE pictures or images in the fact sheet.
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The fact sheet should be between 1 and 1.5 -spaced typed pages long (preferably 1 page), not including the
reference list. PAGE LIMIT for fact sheet – 2-3 pages (where page 2 or page 3 should list the bibliography)).
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Use Arial 11 point font.
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The fact sheet must be based primarily on at least 2-3 recently (within last 5 years, or within10 years only if you
cannot find material in the last 5 years) published review articles of disease (from public health or medical
journals). You may augment this information with data from websites (especially OMIM) or other publications,
but published reviews SHOULD form the basis of your research. Textbooks can be used to gain a basic
understanding of your chosen disease or condition.
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All references (links to databases and articles) used to create your fact sheet should be cited in the text and
referenced in a bibliography list on at the end (i.e. LAST PAGE). The key review article used should be starred.
Steps in Preparing your Fact Sheet
1. Disease. The focus is a genetic disease or condition that affects humans. Look at the BB Learn Page to see the
disease you have been assigned. If you have any concerns regarding this please bring it to my attention
immediately.
2. LOOK AT THE literature. Use “PubMed,” the bibliographic database for the fields of medicine and public
health. This will involve clearly deciding your question, creating a search strategy, and identifying “key words”
and “subject headings.” Note: it is extremely difficult to thoroughly conduct a PubMed search without using
the MeSH database. HINTS: Focus on Reviews. Identify all published reviews on your topic during the past 5-
10 years. Select the best 3 reviews.
3. Limit the scope of the topic. After researching your topic to get a sense of its scope, you may decide to limit
your topic by focusing on a specific group according to race, age, gender, or geographic location. If there are
too many review articles on your topic you may need to limit the scope of your fact sheet further. If there are
not enough reviews, please check in with the Professor.
4. Genetic variations that cause that disease. Provide at least one mutation/deletion/duplication in the gene that
is causative of the disease. You may search OMIM, dbSNP, dbVAR, HGMD and other database of genome
variations that are associated with specific diseases to find an example of the kinds of mutations are
associated with the disease. Often there will be several minor variations in the types of mutations that can
cause the disease. Please pick any ONE type for your research project.
find more resources at oneclass.com
find more resources at oneclass.com
Document Summary
The goal of this assignment is to conduct a literature and omim search on the epidemiology of a genetic disease. Blackboard learn under research project for your assigned disease (we will try to focus on single gene disorders). A fact sheet provides meaningful information about a topic in a format that is extremely brief and easy to read. Experts use them to summarize the state of the art about the topic. Fact sheets are used to provide an overview, to provide recommendations and advice, and sometimes to convince the reader to change their behavior. The focus is on providing what is essential and presenting the information in a way that is visually appealing and accessible. Fact sheet format for this assignment: do not include pictures or images in the fact sheet, the fact sheet should be between 1 and 1. 5 -spaced typed pages long (preferably 1 page), not including the reference list.
