Research Progress Update

RESEARCH UPDATE

“To know how to wait is the GREAT SECRET of SUCCESS” – Joseph De MaistreIn

In February 2018, we initially received Landon’s whole exome genetic sequencing test results. They revealed that he had inherited two different (heterozygous) abnormal copies of the CAMSAP1 gene. His gene mutation was classified as a “Variant of Uncertain Significance” (below) – AKA a “Candidate Gene”. This meant that it might be the cause of his condition but could not be verified.

At that time, it was conveyed that, “…you can’t really do anything about it. Good luck, and try to have a great rest of your day.” Describing the onslaught of overwhelming emotions that were felt then and the during the days/weeks that followed is difficult. However, the perception of a challenge was ultimately felt and met head-on. The rest, as they say, is history!

After more than 3 years of global networking with physicians and researchers, the otherwise insurmountable task, à la Mission Impossible, is now complete! And, we are excited to share the following research progress update:

“We have now identified 7 individuals with this condition in families from the USA, Europe, Turkey and Palestine. Our genetic and clinical studies have enabled us to develop a clear understanding of how the condition affects children during development and early life, and confirms CAMSAP1 gene variants as the cause. Many new developmental disorders such as this continue to be discovered which are caused by alterations (or ‘gene variants’) in the code of a specific gene, which are the instructions that control how infants grow and develop. Understanding the underlying genetic cause of a disorder is important as it provides a diagnosis and information for affected families and ultimately, following extensive research, may enable new therapies and treatments to be developed. Now that the genetic cause of this condition is confirmed, we’re continuing with a wide range of molecular studies. This is providing important information regarding the normal role of CAMSAP1 in our bodies, which was poorly understood before our research. It is also revealing how the CAMSAP1 gene alterations we’ve identified impair the function of the CAMSAP1 molecule, and lead to the condition. Our aim is to continue research in all of these areas to help doctors by providing improvements in the clinical management of affected children, and ultimately identify new avenues for treatment of the condition.

All the very best,

Dr. Crosby
Professor of Human Genetics”

“…you can’t really do anything about it. Good luck, and try to have a great rest of your day.”

Landon’s genetic “variant of uncertain significance” is now classified as a “DISEASE GENE”! Reclassifying CAMSAP1 as a “disease gene” is a tremendous step. CAMSAP1 research will now be eligible for grants from government agencies worldwide such as the National Institute of Health (NIH)

THANK YOU to all of our supporters who have helped us achieve this milestone! We look forward to sharing the formal research progress update following its publication and the next steps of our journey with everyone!

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