Investment leaders in the field of genetics, such as Jim Plante, help spur additional funding for research focused on DNA abnormalities connected with physical and psychiatric disorders. Researchers hope to find preventive measures as well as treatment strategies for conditions caused by genetic issues. Scientific study has made it increasingly clear that an enormous number of health problems have a genetic component.
Additional knowledge about a specific serious disorder can result in a longer lifespan for children and adults with certain genetic mutations. Greater understanding also can lead to a more fulfilling life with greater well-being for these individuals.
For instance, children with Down syndrome once were essentially relegated to special education classes at best, and institutional facilities at worst. Now, these youngsters are commonly encouraged to take a productive role in society by the time they reach their teens and young adult years.
Down syndrome is caused by an extra chromosome in the baby’s genetic structure. Another name for the disorder is Trisomy 21.
A related disorder connected with an extra chromosome is known as Edwards syndrome, or Trisomy 18. It tends to result in more severe medical issues for the babies and young children. Most of these little ones do not survive more than a few years. However, with increased knowledge and advanced medical developments focusing on these patients, some live significantly longer, even into adulthood.
A third and rarer trisomy disorder is Patau syndrome, or Trisomy 13. This is a much more serious condition, and babies generally do not live beyond a few weeks of age.
Chromosomes and Trisomy
Chromosomes hold the genes in the DNA structure. Each human normally has two pairs of 23 chromosomes for a total of 46, each pair inherited from one of the parents. In Trisomy 18, the baby has three copies of chromosome 18. Babies with Down syndrome have three copies of chromosome 21, and those with Patau syndrome three of chromosome 13. Thus, these persons have 47 chromosomes instead of 46. The abnormality can cause a broad range of health and cognitive problems, and unusual physical features.