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Genetic Disease

An overview of genetic diseases, relevant technologies, and ethical dilemmas that arise within the field.

Caitlin Baker & Michelle Barker

on 9 December 2010

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Transcript of Genetic Disease

Genetic Disease Overview Genetic diseases and disorders are caused by underlying problems, or abnormalities within an individual’s genome. The four most distinctive categories of genetic diseases include single-gene, multifactorial, chromosomal and mitochondrial. These different categories indicate the primary genetic cause behind the manifestation of the disease. Single-gene Multifactorial Chromosomal Mitochondrial Causes:
mutations, or changes that occur in the genetic sequence Affect:
genetic coding for proteins, resulting in insufficient protein function. There are more than 6,000 known single-gene disorders including:
Cystic Fibrosis
Sickle Cell Anemia
Huntington's disease Types of Inheritance:
autosomal dominant
autosomal recessive
X-linked Causes:
-environmental and
mutational factors
-various genes may
lead to disease
manifestation Examples:
Autism Causes:
Congenital, or progressive abnormalities in chromosome structure such as

-extra copies of genes
-translocations Examples:
-Down Syndrome
Syndrome These abnormalities produce a wide range of health effects and associated phenotypes. Causes:
-rare mutations in non-chromosomal
DNA of mitochondria

-inherited only from a female's ovum Examples:
-forms of myopathy
-cardiovascular disease
Technology In the past year, new technologies have changed the way some genetic diseases are understood, diagnosed, treated, and prevented. Such advancements and technologies in the genetic field are often the result of extensive research, time, and funding, but can pay off significantly when genetic breakthroughs occur. Embryonic Stem Cells Goal:
-repair damaged tissues by
transplanting these cells
-grow healthy tissues Technique:
-cells derived from early
stage embryo (blastocyst)
-extraction of cells
-transplanation Embryonic Stem Cell Controversy:

-termination of fertilized embryo

-high risks for rejection

-adverse health effects Non-Embryonic Stem Cells Goal:
-same goals as with embryonic stem cells,
only with using non-embryonic cells.

-->Autologous (from individual)
-->Allogenic (from donor) Trans-differentiation: a handful of successful

-directs one type of cell to reverse development
back to a stem cell
-then directs 'born again' stem cell to develop
into a different cell Ethics Case Study #1:
(MPS VI) Case Study #2:
Beta-thalassemia MPSVI: Mucopolysaccharidosis
-Single-gene disorder
-autosomal recessive
-deficiency of arylsulfatase B
-accumulation of glycosaminoglycan
-rare: 1/ 25,000 births Keenan Cahill:
-YouTube sensation: MPS VI Symptoms:
-dwarf like appearance
-joint stiffness
-skeletal abnormalities
-cardiovascular problems
-range of phenotypical
expression MPS & Keenan:

-Keenan's internet fame serves as a new form of advocacy
and awareness for MPS VI

-media as a tool to change the way genetic diseases
can be understood

-public knowledge of disease can influence research
and technological advancements Moral and ethical dilemmas are often encountered within the field of genetic disease as it deals so intimately with the well-being and survivorship of an individual, family, or population. Genetic Screening:
-new abilities to hand-select
genetically fit embryos for
-capable of preventing the
inheritance of genetic
diseases Argument

Less Controversial:
-prevention of early onset,
or terminal genetic disease
-ex: Lesch-Nyhan syndrome

More Controversial:
-screening for late-onset
-ex: Alzheimer's
Huntingtons Ethical Fears:
-possible discrimination against individuals
living with genetic diseases
-reduction in genetic diversity
-disease & identity: some individuals with
genetic diseases do not resent their condition.
ex: embracing the challenges and phenotypes
of a disease. Future Unknowns:
-the elimination of certain genetic
diseases which offer forms of
protection against another
transmittable disease.
ex: Sickle Cell disease reducing
Malaria susceptibility Beta-thalassemia:
-autosomal recessive
-chromosome 11: mutation in HBB gene
-reduces production of hemoglobin, therefore
inhibiting oxygen transport in the body
-diagnosed globally in 60,000 children a year Symptoms: severity depends on form

-severe anemia
-excess iron levels

-Intermedia: typically asymptomatic
-blood transfusions
-bone marrow transplant
(HLA-identical donor)
-cord blood transplant
(related donor) Protection from an infectious
disease,by a genetic disease:

-decreases suspectibility
to Plasmodium falciparum,
the most lethal strain of
-prevents parasitic infection
due to lack of viable host
red blood cells Potential Gene Therapy
for Beta-thalassemia:

-use of retroviruses such as HIV,
as vectors in order to replace
mutated genes
-one of six genetic diseases
successfully treated using
retrovirus Source for Genetic Disease Overview Information:

http://www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml http://stemcells.nih.gov/info/basics/basics3.asp Article on Transdifferentiation:

http://www.stembook.org/node/690 ABC News article on Keenan:

http://abcnews.go.com/Technology/keenan-cahill-youtube-star-highlights-rare-genetic-disease/story?id=12227883&page=2 LA Times article on HIV and Beta-thalassemia:

http://articles.latimes.com/2010/sep/17/science/la-sci-thalassemia-cure-20100916 Source:
Mappes, T.A.,Biomedical Ethics,
Mcgraw-Hill College; 4 Sub edition (January 1, 1995)
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