Smith-Kingsmore Syndrome Foundation supports cutting-edge research and here you can find the latest updates.
SKSF Awards Research Grants
We are laser focused on encouraging research that can lead to new treatments for Smith-Kingsmore syndrome. In support of our mission, we provide funding through grants that will advance that research. So we have carefully awarded our first 3 grants totaling $178,485. These grants are funding a full-time postdoctoral researcher in Dr. Andrew Liu’s lab for 3 years. We are excited to support the incredible research of Dr. Liu and his team at the University of Florida. They have been working tirelessly to help our kids.
Thank YOU !!
These grants are thanks to your individual contributions, monthly contributions, corporate donations, birthday fundraisers, WOD support, and t-shirt purchases.
This work in particular is accelerating the knowledge of Smith-Kingsmore syndrome. So it is critical that we support it now to make sure it can continue. Let’s build now on our already phenomenal momentum. Please donate and help us support researchers like Dr. Liu and his team. Help us fund SKS research to make a real difference in the lives of all of our children.
SKS Research We Are Funding
Updates from Dr. Liu’s Lab
TEAM: Andrew C. Liu (PI), Yang Shen (postdoc fellow), Destino Roman (research assistant)
Smith-Kingsmore Syndrome Research Updates – February 2023
$2.4M NIH Grant for SKS Research!!
We are beyond excited to announce University of Florida, Dr. Andrew Liu and research team have been awarded a $2.4 million NIH grant for SKS research!
Our community and supporters helped fundraise over the last three years to support an SKS post doc researcher. The research generated from the post doc was used to apply for this grant! Without YOUR support, this would not have been possible.
Check out our poster that highlights the last three years! Thank you for continuing to support SKS research.
Smith-Kingsmore Syndrome Research Updates – February 2022
- Click the photo to read more!
Smith-Kingsmore Syndrome Research Updates – August 2021
- Dr. Andrew Liu provides the latest details on Smith-Kingsmore syndrome research at the University of Florida in this video update.
Smith-Kingsmore Syndrome Research Updates – February 2021
SKS Research Today:
- Liu’s research lab, at the University of Florida, has been very busy! They have created 60 genetic variations. Currently, his research team is looking at 6 of these variants and comparing their reactions to four different basal conditions.
- Recently, there has been a huge breakthrough with the creation of stable cell lines that express the individual SKS mutants. So far this has shown increased throughput and consistency in control test results. This will yield reliable data which is more likely to be published. Additionally, the turn-around time when studying all of the variations of SKS will improve, because they can create and save everything more quickly.
- With this stable cell line, they are looking at different mutation activities under different conditions. This includes the effect of circadian rhythms, sensitivity to Rapamycin, and change of cell size.
- Liu’s team is not only doing SKS research, but they are continuously evaluating other research and how that could apply and improve the SKS research.
- They have been working with two SKS mice in collaboration with Cincinnati Children’s Hospital Medical Center (CCHMC).
- In addition, another postdoc and grad researcher in Dr. Liu’s lab, who are not SKS dedicated, are studying ways to manipulate gene function in specific regions of the brain of mice. If they are successful, the team will apply these potential learnings to their SKS research.
- Liu’s SKS team expects this stage of preliminary research which began in October 2020 (thanks to our community’s support) to last about 2 years.
SKS Research Tomorrow:
- This Spring, Dr. Liu plans to write a paper on his research on the data from the 6 mutation along with aggregated clinical data from Dr. Prada, from CCHMC.
- Then towards the end of 2021, Dr. Liu projects a second paper comparing how 2-3 dozen of the SKS variations are distinguished from one another.
- By the end of 2021, Dr. Liu projects his team will have closely examined 1/3 to 1/2 of the genetic variations. They will compare these against one another, like the initial work with the first 6 they are focused on currently.
- They remain focused on the SKS biochemistry, cells and mice, with the ultimate goal of human translational research.
Smith-Kingsmore Syndrome Research Updates – November 2020
- Dr. Liu’s team generated 46 mutations which include known SKS mutations and new ones identified by the SKS diagnosis team.
- Keep reading to learn more on the great progress made.
Smith-Kingsmore Syndrome Research Updates – August 2020
- Dr. Liu describes the research his team is conducting and what they hope to accomplish with SKS.
- Click the button for a short video and summary of this work.
Other SKS Research Updates
There are other studies in progress. The aim of these is to gain a better understanding of MTOR conditions like Smith-Kingsmore syndrome.
- Cincinnati Children’s Hospital Medical Center (CCHMC) is conducting a Medical History Study of SKS. Email Lindsey Aschbacher-Smith at CCHMC for more information.
- Seattle Children’s Research Institute (SCRI) is enrolling individuals with SKS who have had an MRI. The goal of this research is to understand the causes, mechanisms and outcomes of human developmental brain disorders. To enroll in this study, email brainresearch@seattlechildrens.org.
- UCLA’s Division of Medical Genetics, in Los Angeles, USA, published initial research in July 2021 from a comprehensive study of all of the psychiatric, behavioral, neurological, and medical characteristics of children with MTOR changes. They plan to publish additional analysis soon.
- The ICR in London, UK, is investigating the causes of increased and/or assymetric growth in children with the Childhood Overgrowth (COG) Study.
Updates from Smith-Kingsmore Syndrome Foundation
Check the news and updates page for the latest on research and other announcements from Smith-Kingsmore Syndrome Foundation. Also, if you want us to keep you updated, you can contact us.
