Tuberous Sclerosis News and Research RSS Feed - Tuberous Sclerosis News and Research

Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures, mental retardation, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.
UAB researchers launch first drug study to prevent onset of epilepsy in children with TSC

UAB researchers launch first drug study to prevent onset of epilepsy in children with TSC

Researchers at the University of Alabama at Birmingham have launched the first drug study aimed at preventing or delaying the onset of epilepsy in children with a genetic condition known as tuberous sclerosis complex. [More]
Researchers identify lymphatic endothelial lineage that shows potential for new anti-cancer treatment

Researchers identify lymphatic endothelial lineage that shows potential for new anti-cancer treatment

Identifying the cell of origin is crucial to understanding how a tumor develops and metastasizes and for developing targeted therapies. [More]
Researchers identify 43 specific genes associated with both autism and cancer

Researchers identify 43 specific genes associated with both autism and cancer

Autism and cancer share more than 40 risk genes, suggesting that common mechanisms underlying the functions of some of these genes could conceivably be leveraged to develop therapies not just for cancer but for autism as well, an extensive assessment by researchers with the UC Davis MIND Institute and Comprehensive Cancer Center has found. [More]
'Classic doctoring' still has big role to play in diagnosis, treatment of neurocutaneous syndromes

'Classic doctoring' still has big role to play in diagnosis, treatment of neurocutaneous syndromes

A pair of neurologists at Nationwide Children's Hospital, Monica P. Islam, MD, and E. Steve Roach, MD, are the editors behind "Neurocutaneous Syndromes," a recently published book that highlights the insights of neurocutaneous syndromes research and shows that "classic doctoring" still has a big role to play in diagnosis and treatment. [More]
Study may lead to potential drug targets for tumor formation in pulmonary tuberous sclerosis complex

Study may lead to potential drug targets for tumor formation in pulmonary tuberous sclerosis complex

In a new study published in the American Association of Cancer Research's journal Cancer Research, a pair of investigators at Rutgers and Columbia universities has identified a gene that may provide a new source of potential drug targets for tumors that arise in pulmonary tuberous sclerosis complex (TSC). [More]
Neurocutaneous disorders affect skin, nervous system

Neurocutaneous disorders affect skin, nervous system

One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system. [More]
VCU Massey Cancer Center scientists reveal signaling process that leads to excessive growth of cancer

VCU Massey Cancer Center scientists reveal signaling process that leads to excessive growth of cancer

The gene p53 has been described as the "guardian of the genome" due to its prominent role in preventing genetic mutations. More than half of all cancers are thought to originate from p53 mutations or loss of function, and now a recent study by VCU Massey Cancer Center scientist Richard Moran, Ph.D., explains why. [More]
Seizure control improves for TSC patients undergoing more extensive surgery

Seizure control improves for TSC patients undergoing more extensive surgery

Children with the genetic disorder tuberous sclerosis complex (TSC) often need epilepsy surgery for severe, uncontrollable seizures. A new study finds that seizure control is improved for patients undergoing more extensive surgery, reports the October issue of Neurosurgery, official journal of the Congress of Neurological Surgeons, published by Wolters Kluwer. [More]
UCI scientists find potential biomarker for diagnosing certain forms of autism

UCI scientists find potential biomarker for diagnosing certain forms of autism

By identifying a key signaling defect within a specific membrane structure in all cells, University of California, Irvine researchers believe, they have found both a possible reliable biomarker for diagnosing certain forms of autism and a potential therapeutic target. [More]
Tuberous Sclerosis Alliance to observe fourth annual TSC Global Awareness Day

Tuberous Sclerosis Alliance to observe fourth annual TSC Global Awareness Day

On May 15, the Tuberous Sclerosis Alliance (TS Alliance) will join tuberous sclerosis complex (TSC) organizations around the world to observe the fourth annual TSC Global Awareness Day. [More]
New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

Some of the genetic diseases that can cause autism spectrum disorder (ASD) and intellectual disability (ID) are so rare that even physicians who specialize in treating them can't be certain they have seen every possible symptom. [More]
CNF names Elizabeth A. Thiele as winner of 2014 Infantile Spasms Heroes Award

CNF names Elizabeth A. Thiele as winner of 2014 Infantile Spasms Heroes Award

Today the Child Neurology Foundation, named Elizabeth A. Thiele, MD, PhD, as its 2014 Infantile Spasms (IS) Heroes Award winner to help kick off IS Awareness Week (December 5-11, 2014). The IS Heroes Award was established in 2010 by CNF, www.childneurologyfoundation.org, to recognize a deserving healthcare professional for making a positive difference in the life of a child with infantile spasms. [More]
Epilepsy: A true window on the brain

Epilepsy: A true window on the brain

Rapidly emerging technologies, novel imaging techniques, the development of new therapies and new genes, have given researchers and clinicians an extraordinary ability to explore the brain at the cellular, genetic and neural levels. While current epilepsy research may seem like it's ripped from the pages of a science fiction novel, it's real—and even pretty cool. [More]
New hope for patients with tuberous sclerosis complex

New hope for patients with tuberous sclerosis complex

Although it is rare, tuberous sclerosis complex (TSC) can be a difficult and frightening diagnosis for parents and children. The genetic disorder causes nonmalignant tumors to form in many different organs, including the brain, eyes, kidneys and heart. [More]
Staged surgery for most complex cases of childhood epilepsy

Staged surgery for most complex cases of childhood epilepsy

A staged approach to epilepsy surgery-with invasive brain monitoring followed by surgery in a single hospital stay-is a safe and beneficial approach to treatment for complex cases of epilepsy in children, reports the February issue of Neurosurgery, official journal of the Congress of Neurological Surgeons. [More]
New web-based tool empowers people with epilepsy to seek specialized care

New web-based tool empowers people with epilepsy to seek specialized care

Receiving specialized care in a timely manner plays a significant role in the progression and impact of epilepsy on someone's life. Multiple organizations across the global epilepsy community have collaborated on "My Seizure, Know More" a web-based tool that empowers people with epilepsy and their families to seek specialized care. [More]
Novartis to present updates on broad cancer portfolio at ASH and SABCS symposiums

Novartis to present updates on broad cancer portfolio at ASH and SABCS symposiums

Novartis will present updates on its broad cancer portfolio with more than 240 abstracts at the upcoming American Society of Hematology (ASH) annual meeting and CTRC-AACR San Antonio Breast Cancer Symposium (SABCS). [More]
Study highlights new treatment options for neurodevelopmental disorders like TSC

Study highlights new treatment options for neurodevelopmental disorders like TSC

Clemson University scientists are working to determine how neurons are generated, which is vital to providing treatment for neurological disorders like Tuberous Sclerosis Complex (TSC). [More]
New diagnostic criteria for TSC appear in recent online issue of Pediatric Neurology

New diagnostic criteria for TSC appear in recent online issue of Pediatric Neurology

A paper detailing new diagnostic criteria for tuberous sclerosis complex (TSC) appears in the most recent online issue of Pediatric Neurology. The author is Hope Northrup, M.D., professor of pediatrics at The University of Texas Health Science Center at Houston (UTHealth). [More]
Study demonstrates effectiveness of everolimus for TSC patients

Study demonstrates effectiveness of everolimus for TSC patients

A drug originally developed to prevent the rejection of transplanted organs has now been shown to dramatically reduce seizures in patients with tuberous sclerosis complex - a genetic disease characterized by benign tumors on multiple organ systems. [More]
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