A tool intended to detect signs of autism in high - risk infants can be used to help identify and treat patients
with tuberous sclerosis complex (TSC), a genetic disorder, who most need early intervention.
Establishment of Tsc1flox / flox - GFAP - Cre (Tsc1GFAP CKO) mice for evaluating potential new antiepileptic therapies
for tuberous sclerosis complex S. C. LEISER, A GHAVAMI, M KWAN, J BELTRAN, D SONG, D. M. DEVILBISS, M WONG, N RENSING, S. L. ROBERDS, D BRUNNER... Abstract / Posters
May 21 David Kwiatkowski Division of Pulmonary and Critical Care Medicine and Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA Title: Mosaicism, Novel Therapies, and Epigenetics
in Tuberous Sclerosis Complex Host: Leif Andersson More information
Dr Joseph Bateman from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London has been awarded a $ 484,000 grant from the US Department of Defense for a study
into Tuberous Sclerosis Complex, a rare genetic disease.
Tsc1 - GFAP - CKO mice: a robust and reproducible model for evaluating potential new anti-epileptic therapies for
tuberous sclerosis complex ROBERDS L.S, GHAVAMI A, LEISER S, KWAN M, BELTRAN J, SONG D, DEVILBISS D, MAZZELLA M, WONG M, BRUNNER D... Abstract / Posters
Our research centers upon the proteins affected
in tuberous sclerosis complex (TSC) and spinal muscular atrophy (SMA)-- two neurological disorders whose genetic basis is well understood but whose cell biology remains unknown.
In an international study, the drug everolimus has been shown to significantly reduce the frequency of seizures in patients with treatment - resistant epilepsy and
tuberous sclerosis complex (TSC)-- a genetic disease that causes malformations and tumors in the brain and other vital organs.
Liu, who was an investigator at the Children's National Medical Center in Washington DC during the research, decided to study tissues removed from eight patients with either focal cortical dysplasia or
tuberous sclerosis complex to see if she and her co-authors could discern what might be going awry at the molecular level.
Among the other more common neurocutaneous disorders are
tuberous sclerosis complex, which affects about 1 in 5,8000 newborns and Sturge - Weber syndrome, which affects between 1 in 20,000 and 1 in 50,000 newborns.
In a new study, researchers at Boston Children's Hospital used stem cell technology to create cerebellar cells known as Purkinje cells from patients with
tuberous sclerosis complex (TSC), a genetic syndrome that often includes ASD - like features.
Three main pathways has been demonstrated so far to control lifespan in mammals involving: insulin / insulin like growth factor1 (IGF1),
tuberous sclerosis complex (TSC) / mammalian target of rapamycin (mTOR), and sirtuins.
Target indications currently include Dravet syndrome, Lennox - Gastaut syndrome,
Tuberous Sclerosis Complex, and Infantile Spasms.
GW's Epidiolex development is initially concentrating on severe, orphan, early - onset, treatment - resistant epilepsy syndromes including Dravet syndrome, Lennox - Gastaut syndrome (LGS),
Tuberous Sclerosis Complex (TSC) and Infantile Spasms (IS).
Cellular and molecular basis of synaptic dysfunction and aberrant behavior in autism,
tuberous sclerosis complex, and Angelman syndrome
Liu, who was an investigator at the Children's National Medical Center in Washington during the research, decided to study tissues removed from eight patients with either focal cortical dysplasia or
tuberous sclerosis complex to see if she and her co-authors could discern what might be going awry at the molecular level.
In addition to fragile X syndrome, my laboratory also has conducted studies to determine whether the signaling cascades that normally are required for long - lasting synaptic plasticity and memory are altered in mouse models of several developmental disorders, iincluding autism spectrum disorder (ASD), intellectual disability (ID),
tuberous sclerosis complex (TSC), and Angelman syndrome.
His primary research interest is in diagnosis and treatment of neurogenetic disorders, especially phakomatoses such as neurofibromatosis
the tuberous sclerosis complex.
Funded by the US Department of Defense
Tuberous Sclerosis Complex Research Program, Award #W81XWH -17-1-0082, the project is entitled «Establishing the Molecular Basis of the Neurodevelopmental Features of Tuberous Sclerosis Complex (TSC)».
This treatment has been shown to be successful in treating a wide range of seizure types and syndromes (references 1, 2, 3) although may be particularly beneficial in myoclonic epilepsies, infantile spasms and
tuberous sclerosis complex (reference 4).
More specifically, upstream mTORC1 signaling via
the tuberous sclerosis complex 2 is sensitive to cellular energy status mediated through AMPK (32, 33).