Achondroplasia Research Paper

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St John 1

Mick St John
April 8, 2013
Achondroplasia (Dwarfism)
One in every 15,000 to 40,000 people have Achondroplasia. This means that over 466 million people on the planet have Achondroplasia. Achondroplasia is a genetic disorder that is a part of a group of disorders called chondrodystrophies or osteochondrodysplasias. Achondroplasia literally means
"without cartilage formation". Cartilage is a strong and flexible tissue that makes up most of the skeleton during a child’s early development, without it, the child has no chance of growing properly (Genetics
Home Reference). This disorder is passed down through family generations, it is a dominant trait that one or both parents can carry and if one parent has it, in almost every case, the child inherits this
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This experiment determined what effect the gene mutation can have and what kind of effect an illness would have on it. When these mice were crossed with mice harboring a S252W FGFR2 allele and exhibiting features of Apert syndrome, the craniosynostosis phenotype was rescued. A similar approach targeted to the mutant FGFR3 allele in achondroplasia merits consideration, although delivery of an RNA interference vector to growth plate chondrocytes represents a challenge (Achondroplasia Research). These hypotheses, idea’s, and scientific notions will one day help discover what and how these disorders are created and how they can be stopped and annihilated. People with this disorder through a lot of different symptoms and health problems.
Approximately 20­50% of all children with achondroplasia will experience some form of neurological impairment. This is caused by compression; created as they literally grow faster than their bones. The stunted bone growth at the base of the skull and the spine causes the spinal cord and brainstem to become compressed. This can lead to important nervous system structures such as,
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Occasionally children with achondroplasia may die suddenly during infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.
Bowed lower legs, flat feet that are short and broad, extra space between the middle and ring fingers
(Also called a trident hand), poor muscle tone and loose joints, frequent middle ear infections which may lead to hearing loss, abnormal intelligence, delayed developmental milestones such as walking
(which may occur between 18 to 24 months instead of around one year of age) (National Center for
Human Genome Research). There is a lot I learned and a lot more to be learned about this disorder.
The sub­topics were on the causes of Achondroplasia, how it is inherited and what causes the gene mutation. It is inherited from parent to child, through family generations and the gene mutation is caused by mutation in the FGFR3 gene, a gene that has to do with cartilage development at an early stage of human growth. The symptoms, going over all the symptoms one with this disease might go through, common and uncommon symptoms. Most of the symptoms are painful, irritable and

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