Achondroplasia Family

Achondroplasia Family

Sunday, February 23, 2014

An Introduction to Dwarfism and Achondroplasia's Background

First of all, what is Achondroplasia? Achondroplasia is an autosomal dominant disorder affecting one of the chromosomes in a persons body: chromosome 4. In other words, Achondroplasia is the most common form of dwarfism.

Dwarfism is not a new genetic disorder, it has been around for a very long time. Throughout history, mentions of dwarfism have been traced back to as early as the civilizations in Egypt. However, the modern day definition of dwarfism can be traced back to a group of scientists in the 1990's. Here are some of the notable team scientists:

  • Pierre Maroteaux
  • Maurice Lamy
  • Dr. John Wasmith
The first modern scientist to mention dwarfism was Pierre Maroteaux, a French Pysician and scientist. Born in 1929, he is largely credit to the discovery of dwarfism by the scientific community because he discovered the link between the genetic disorder and the prenatal micromelic of parents, also known as Lamy-Maroceaux Sydrome. This is was a very important discovery in dwarfism because it lead to further genetic research. For more on Lamy-Maroceaux Sydrome, go here: 
http://en.wikipedia.org/wiki/Maroteaux%E2%80%93Lamy_syndrome

Maurice Lamy, another renowned French physician, worked with Maroteaux and his team. They researched the order and number of chromosomes of patients who are dwarf when they discovered Lamy-Maroceaux Sydrome. This lead to one of the doctors on the team, Dr. John Wasmith, discovering the cause of Achondroplasia. Dr. John Wasmith initially served as a researcher at the University's College of Medicine in 1977. While working on the research team, he discovered the cause of Achondroplasia, the most common form of dwarfism. The team published the findings which mainly stated the cause being in a gene inside the fourth chromosome called , the "fibroblast growth factor receptor-3". He later served as the Director at National Human Genome Center. 

For more information on the researchers and their team go to: 
http://discovery.yukozimo.com/who-discovered-dwarfism/

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