The great hope of genomics is that it helps us understand humanities most perplexing diseases. More than a decade after the first complete map of a human genome was assembled, researchers are making serious advances on that promise. Autism is a rare complex disorder that affects brain development. 90% of the different types of autism are caused by rare gene changes or mutations, yet only an estimated 20-25% of the genes involved have been identified. The genetic landscape of autism identifies which known genes and types of variations are responsible for the disorder. One difficult aspect of researching the biological background of such a complex disease is that many of these genes have been associated with other disorders. For example Fragile X syndrome, which is caused by a defect in a single gene, and tuberous sclerosis caused by chromosome abnormalities.
Genetic research is helping to transform our understanding of autism. Researchers suspect that there are about 200-400 genes associated with the disorder. However, an autistic individual does not express every related variant but a diverse combination of these DNA contributors. In a study, autistic individuals exhibited many areas of interest, especially on chromosome 11 which suggest that this region harbors autism susceptibility genes. Another way to further understand the genetic influence on autism is to examine the number of Copy Number Variations (CNV). CNVs are genetic changes that involve duplication or deletion of entire segments of DNA. The presence of numerous CNVs has the potential to disrupt normal physiology by causing aberrant expression of specific proteins which ultimately contributes to autism. Many individuals diagnosed with autism have been found to have a de novo CNV, further highlighting the genetic complexity of this disease.
Dr. Randi Hagerman’s research into Fragile X syndrome is a fantastic example of how genomics in the lab can give parents like Shari Silver a greater understanding, and some peace of mind.
This type of research has only been made available within the past few years and before this, autism was diagnosed simply by observing physical symptoms like delayed speech, poor social interaction and unusual repetitive behaviors. Now, specialized genetic tests can help influence an appropriate diagnosis.
New Amsterdam Genomics offers technology that can comb through different variations in the human genome to identify patterns associated with autism. As with all spectrum disorders, early detection and diagnosis is key in order to start existing therapies, and our technology gives families a chance to do just that. Genomics is giving parents a firm grasp on the nature of spectrum disorders, and the “great hope” becomes even brighter.