News & Updates from Smith-Kingsmore Syndrome Foundation
Check back for the latest news and updates from Smith-Kingsmore Syndrome Foundation. You can also go to our newsletter page to connect with us so we can keep you informed of any updates.
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Follow Us$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.
Rare Disease Day News
February 25, 2022:
SKS was in the news for Rare Disease Day! SKSF Board member Matt Walsh and his family, and SKSF President Kristen Groseclose spoke with a reporter in Arizona. They shared how our fight is helping to create a sense of community.
February 2022 Newsletter
Rare Disease Day is Feb 28, 2022!
In the newsletter we provide updates on the latest research and how to get involved in the current studies. We also share details from our Global Patient Registry and some of our 2022 initiatives. Thank you for your support!
SKSF Part of Rare As One Network
November 3, 2021:
It is official! The SKS Foundation is now part of the Chan Zuckerberg Initiative #RareAsOne Network – a group of 50 patient-led organizations that are strengthening rare disease communities, improving diagnosis, accelerating research and driving progress in the fight against rare diseases.
What does that mean for SKS community? Read the press announcement and you’ll see why we are so exited!
Second Family Conference
October 23 and 24, 2021:
We met virtually for the 2nd Smith-Kingsmore Syndrome Family Conference. Cincinnati Children’s Hospital Medical Center (CCHMC) again hosted this event together with the Smith-Kingsmore Syndrome Foundation (SKSF).
Please use this link for the conference recording: SKS Foundation Family Conference October 2021.
A guide is also available to skip to specific talks.
Thank you to our amazing team of researchers!
With One Phone Call, Answers to a Genetic Mystery
Check out the University of Florida Foundation article by Liesl O’Dell on SKS and UF’s research team!
New SKS Research Published!
We are so incredibly thankful for researchers who partner with the Smith-Kingsmore Syndrome Foundation and SKS families around the world to advance the understanding of SKS and get us closer to treatments that work.
July 1, 2021:
Besterman AD, Althoff T, Elfferich P, et al. Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. PLOS Genetics 17(7): e1009651, 2021.
We are looking forward to Dr. Besterman’s follow up study on the neurobehavioral aspects of SKS patients!
July 15, 2021:
Szczałuba K, Rydzanicz M, Walczak A, et al. Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue. Diagnostics (Basel). 2021;11(7):1269. Published 2021 Jul 15. doi:10.3390/diagnostics11071269
May 25, 2021:
Poole RL, Curry PDK, Marcinkute R, et al. Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Am J Med Genet A. 2021 Aug;185(8):2445-2454. doi: 10.1002/ajmg.a.62350. Epub 2021 May 25. PMID: 34032352.
Blue Signal Gives Back
January 12, 2021:
Blue Signal gave back (again)! Ryan Walsh won a whopping $3,986.50 to donate to the Smith-Kingsmore Syndrome Foundation on his behalf – all thanks to the combined efforts of the Blue Signal team. And this is the second year in a row. In 2019, Blue Signal donated $2,052.50 to SKSF. Thank you, Blue Signal, for making a difference in the lives of everyone with SKS!
CoRDS Cast: Episode 28
December 3, 2020:
We were thrilled to participate on this month’s episode of “CoRDS Cast,” a podcast highlighting a different rare condition on each episode.
Tune in to hear Dr. Carlos Prada (Cincinnati Children’s Hospital) and Kristen Groseclose (Smith-Kingsmore Syndrome Foundation) discuss Smith-Kingsmore syndrome and SKSF’s efforts to accelerate awareness and research with the help of our SKS community.
SCRI Brain Research
Dr. Mirzaa at Seattle Children’s Research Institute (SCRI) is currently 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, including brain growth abnormalities (megalencephaly, microcephaly), malformations of cortical development and associated co-morbidities including autism, epilepsy and intellectual disability. To enroll in this study, email: brainresearch@seattlechildrens.org.
Funding for Research
September 2020:
In just 5 weeks, together we raised $59,000, enough to fund a postdoctoral researcher for one year. Thank you!! Read more about the groundbreaking SKS research we are supporting.
Awareness Day
August 15, 2020, marked our first-ever Smith-Kingsmore Syndrome Awareness Day. Friends and families joined in a day to remember our blessings and bring attention to our struggles. We were reminded that our mission is CLEAR, our cause is JUST, and our fight is URGENT.
CCHMC Medical History Study
Cincinnati Children’s Hospital Medical Center (CCHMC) is working on a Medical History Study. If you are interested in participating, please email Lindsey Aschbacher-Smith at CCHMC for more information.
Inaugural Family Conference!
October 26 and 27, 2019:
Researchers and clinicians met with our families at Cincinnati Children’s Hospital Medical Center to study the condition. For more information on this conference and for links to the presentations, check out our family conference tab.
Natural History Study
UPDATE: Study is closed to new participants.
Original update: The UCLA Department of Human Genetics is now completing the data gathering phase of a genetic study on individuals with overgrowth conditions, like Smith-Kingsmore syndrome. The attached flyer provides more information and who to contact to participate in the study. You can also contact us to email you a copy.
