Sentences with phrase «tuberous sclerosis»

Tuberous sclerosis is a rare medical condition where growths called tubers form in different parts of the body, like the brain and skin. These growths can cause problems such as seizures, developmental delays, and skin abnormalities. Full definition
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.
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.
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex.
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
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.
- Combined Basic and Clinical Approaches to Successfully Treat Tuberous Sclerosis and Lymphangioleiomyomatosis; Francis McCormack, University of Cincinnati.
At about 25 - weeks doctors discovered an irregular heartbeat and a tumor caused by a genetic condition called Tuberous Sclerosis.
She will be having brain surgery to remove brain tumors from Tuberous Sclerosis Complex to hopefully cure her medically refractory epilepsy.
«Lab - grown human cerebellar cells yield clues to autism: Purkinje cells derived from patients with tuberous sclerosis enable study of autism disorders.»
The PREVeNT trial (Preventing epilepsy using vigabatrin in infants with tuberous sclerosis co...
A failure of normal astrocyte generation by CNS precursor cells has been discovered to be a consequence of the mutations that cause Vanishing White Matter leukodystrophy [7], and dysfunction of astrocytes has also been suggested to be of importance in models of amyotrophic lateral sclerosis [8], forebrain ischemic injury [9], epileptic seizures [10], Huntington's disease [11], tuberous sclerosis [12] and Rett syndrome [13].
The goal is to understand why tuberous sclerosis causes epilepsy, which would help scientists develop drugs to treat the disease.
It's difficult to gather brain tissue samples from humans, so studying diseases like tuberous sclerosis is maddening, he said.
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.
We provide personalized care for patients in all stages of life and with varying courses of tuberous sclerosis.
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
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
Combined Basic and Clinical Approaches to Successfully Treat Tuberous Sclerosis and Lymphangioleiomyomatosis; Francis McCormack, University of Cincinnati.
«Drug reduces seizure frequency in children with tuberous sclerosis complex.»
about FDA approves everolimus for tuberous sclerosis complex - associated partial - onset seizures
I might also look for skin stigmata or spots on the skin that might make me think they have a condition such as neurofibromatosis or tuberous sclerosis that's contributing to the patient's symptoms.
I need to stress that having neurofibromatosis or tuberous sclerosis or even fragile X is exceptionally rare.
The multidisciplinary clinic team follows more than 1,000 children and adults with tuberous sclerosis and manages every aspect of the disorder.
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.
Our studies in Rett model mice add to similar studies in mouse models of Down syndrome, neurofibromatosis, tuberous sclerosis and fragile X, which provide rational bases for their treatment in adulthood, providing hope for millions of affected individuals and their families.»
This Purkinje neuron was derived from patients with tuberous sclerosis and model properties of the disease at the cellular and molecular level.
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.
A congenital condition, tuberous sclerosis is present at birth and often diagnosed during infancy, but also can remain undiagnosed in individuals with mild forms.
Tuberous sclerosis is caused by a genetic mutation that either is inherited from a parent or acquired during development before a children is born.
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).
By donating to the Tuberous Sclerosis Alliance you can directly touch the lives of those affected by tuberous sclerosis complex (TSC).
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.
From these engineered bits of brain, he learned about how Zika virus attacks the brain, but, he's more excited about a more obscure disease — tuberous sclerosis.
But with organoids, Salick can afflict as many as he wants with tuberous sclerosis, giving him an unlimited number of ways to study what causes the disease.
Tuberous sclerosis (TSC) is an inherited tumour syndrome that shares clinical similarities with Birt - Hogg - Dube Syndrome.
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).
In the case which resulted in the $ 10 million award, the client gave birth to a daughter who later was diagnosed with tuberous sclerosis.

Phrases with «tuberous sclerosis»

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