The mission of the Smith-Kingsmore Syndrome Foundation is to accelerate research that will drive:
- A better understanding of Smith-Kingsmore syndrome
- Therapies that will help individuals with Smith-Kingsmore syndrome
- A cure for Smith-Kingsmore syndrome
How we do this:
- We raise funds that support Smith-Kingsmore syndrome research through the award of grants.
- We foster collaboration across a network of clinicians and researchers with an interest in finding treatments and cures for Smith-Kingsmore syndrome
- With Sanford CoRDS, we have established a global patient registry that collects comprehensive data about what Smith-Kingsmore syndrome looks like in different individuals. De-identified data from this registry can be used by researchers across the world, and is a critical to better understanding Smith-Kingsmore syndrome.
See links below for information about our research grants, presentations from health professionals on different aspects of Smith-Kingsmore syndrome, and research publications about SKS.
Smith-Kingsmore Syndrome Global Patient Registry
Joining the SKS patient registry is a confidential and secure way to help us learn more about SKS and collect data that will help drive research forward. Click here to...
Lab of Dr Andrew Liu
The Smith-Kingsmore Syndrome Foundation is the only non-profit that specifically funds Smith-Kingsmore syndrome research. Our first grant was awarded to the lab of Dr Andrew Liu, in the Department of...
Sleep- Dr David Smith talks about sleep
Smith-Kingsmore Syndrome Foundation talked with Dr. David Smith, MD, Ph.D. Dr. Smith spoke about sleep struggles including sleep hygiene, falling asleep and staying asleep. He offers advice for sleep-deprived...
PubMed
"Neque porro quisquam est qui dolorem ipsum quia dolor sit amet, consectetur, adipisci velit..." "There is no one who loves pain itself, who seeks after it and wants to have...
SKS Natural History Study
Cincinnati Children’s Hospital Medical Center (CCHMC) is conducting a Natural History Study of a number of neurodevelopmental disorders (RASopathies), including Smith-Kingsmore syndrome. This study will help us understand how Smith-Kingsmore...
National Brain Gene Registry
The National Brain Gene Registry aims to better understand the impact of rare gene variants in intellectual and developmental disabilities. MTOR is a gene of interest. National Brain Gene Registry...
Lab of Dr Joanna Chiu,
Our second research grant has been made to the lab of Dr Joanna Chiu, at the University of California Davis. Dr Chiu and her team are using Drosophila (fruit fly)...
Seizures- Epilepsy Nurse Practitioner
Lyndsey Prange, from Duke Children’s Hospital, talks about seizures Smith-Kingsmore Syndrome Foundation spoke with Epilepsy Nurse Practitioner, Lyndsey Prange, from Duke Children’s Hospital. Lyndsey talked about epilepsy, answered questions, and...
What is SKS
Dr. Laurie Smith Introduces Smith-Kingsmore Syndrome Dr. Laurie Smith, who first documented Smith-Kingsmore syndrome, talks about SKS and answers questions from our families.
Functional and structural analyses
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. Besterman AD, Althoff T, Elfferich P, Gutierrez-Mejia I, Sadik J, Bernstein JA,...
Delineating the Smith-Kingsmore syndrome phenotype
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Poole RL, Curry PDK, Marcinkute R, Brewer C, Coman D, Hobson E, Johnson D,...
mTOR mutations in Smith-Kingsmore syndrome
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de...
Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome.
Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome. Elizondo-Plazas A, Ibarra-Ramírez M, Garza-Báez A, Martínez-de-Villarreal LE. Neurol Genet. 2020 May 7;6(3):e432. doi: 10.1212/NXG.0000000000000432. eCollection 2020 Jun. PMID: 32494756
Sleep and Circadian Disturbances in Children With Neurodevelopmental Disorders
Sleep and Circadian Disturbances in Children With Neurodevelopmental Disorders. Tamir S, Dye TJ, Witt RM. Semin Pediatr Neurol. 2023 Dec;48:101090. doi: 10.1016/j.spen.2023.101090. Epub 2023 Oct 4.PMID: 38065637
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P,...
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype
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. Szczałuba K, Rydzanicz M, Walczak...
A new case of Smith-Kingsmore syndrome with somatic MTOR
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Carli D, Ferrero GB, Fusillo A, Coppo P, La Selva R, Zinali...
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys)
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, Yigit...
Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review
[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review]. Lei HH, Liu LL, Wang XL, Tie XC, Tian N, Ji Y, Yang Y. Zhonghua Er Ke Za...
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