Chromosome 8p is a rare genetic condition with approximately 1 in 10,000 patients around the world and counting. A chromosome disorder typically impacts every cell in your body, not just in one organ of your body, but often your entire human system. Right now, science does not have the means to treat this condition. The good news is that the scientific community is making substantial progress and together with Project 8p, we are going to do everything we can to help.
In most cases, Chromosome 8, appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons and are not inherited. Recently, we have found families where the mutation has also been inherited but different manifestations of the symptoms.
Chromosomal rearrangements differ in structure or copy number (copy number variants) from what would be the Norm called disomy with two copies. Anything different from two normal copies results in a disorder such as:
Fun Fact: Parts of chromosome 8 have a high rate of mutation and it is one of the chromosomes that differs the most from chimpanzees. Mutations on chromosome 8 may be partially responsible for humans’ large brains so human intelligence can be at least partially traced to people who have mutations and abnormalities on chromosome 8. Chromosomal mutations and abnormalities occur naturally and are the vehicle by which evolution is possible.
Chromosome 8 contains around 4.5 to 5 percent of the total DNA in cells, which is probably around 700 genes up to 1400 genes.Chromosome 8 contains about 146 million base pairs or DNA building blocks, of which over 95% have been determined
Compare the unaffected Chromosome 8 on the left to the affected chromosomes on the right.
Each cell has two copies of Chromosome 8, one from Mom and one from Dad. One of the copies is unaffected and one has a deletion or duplication. Proteins are made from both of the chromosomes in each pair. Deletion will result in fewer proteins from the deleted region being made, and duplication will result in more proteins from the duplicated region being made. However, cells can respond in unique ways to changes in DNA copy number, so the relationship is not always 1 to 1.
Each cell has two copies of Chromosome 8, one from Mom and one from Dad. One of the copies is unaffected and one has a deletion or duplication. Proteins are made from both of the chromosomes in each pair. Deletion will result in fewer proteins from the deleted region being made, and duplication will result in more proteins from the duplicated region being made. However, cells can respond in unique ways to changes in DNA copy number, so the relationship is not always 1 to 1.
