Smith-Kingsmore Syndrome Research Updates – August 2020
Dr. Liu describes the research his team conducts and what they hope to accomplish with SKS in this short video:
Here is an overview of the plan for Smith-Kingsmore syndrome research:
- Dr. Liu and his team have developed a genetic variation (allele) of each known SKS MTOR variant to understand the individual challenges for a person with SKS.
- They will first test 5-10 mutations side by side with normal activity. Then expand to all known SKS mutations to learn the nuances between each to fine tune treatment.
- In addition, the research can also find negative outcomes that we have yet to encounter in our children.
- This work will be cataloged in a “dictionary” and available to other doctors and researchers around the world in order to provide precision and personalized treatment options.
- Precision is important – as the master energy sensor, mTOR regulates metabolic balance (homeostasis) in each cell, and too much or too little activity can have adverse effects in cells and the whole-body physiology.
- Targeted precision medicine may one day apply early treatment during the neonatal period to prevent neurological and development issues.
- Precision and personalized treatment options can bring our children’s cellular activity into balance. This can improve their lives now and possibly preventing future devastating diseases, such as cancer.
