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.
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]
Autism Speaks funds high priority research for treatment of ASD

Autism Speaks funds high priority research for treatment of ASD

Autism Speaks, the world's leading autism science and advocacy organization, today announced awards totaling $685,968 funding new research in areas of high priority that will advance understanding and treatment of autism spectrum disorders (ASD). [More]
Sirolimus effective in treating children with Pretzel syndrome, new study reports

Sirolimus effective in treating children with Pretzel syndrome, new study reports

With a better understanding of underlying mechanisms that cause a rare neurodevelopmental disorder in the Old Order Mennonite population, referred to as Pretzel syndrome, a new study reports that five children were successfully treated with a drug that modifies the disease process, minimizing seizures and improving receptive language. [More]
ECGs show structural difference in brain connections among children with autism

ECGs show structural difference in brain connections among children with autism

A look at how the brain processes information finds a distinct pattern in children with autism spectrum disorders. Using EEGs to track the brain's electrical cross-talk, researchers from Boston Children's Hospital have found a structural difference in brain connections. Compared with neurotypical children, those with autism have multiple redundant connections between neighboring brain areas at the expense of long-distance links. [More]
New medication could help patients with renal tumours triggered by tuberous sclerosis

New medication could help patients with renal tumours triggered by tuberous sclerosis

In collaboration with the Berlin TSC Centre, Charité - Universitätsmedizin Berlin has developed a new therapy for patients suffering from renal tumours associated with the rare genetic disease tuberous sclerosis (TSC). [More]
Everolimus treatment option for tuberous sclerosis patients

Everolimus treatment option for tuberous sclerosis patients

Researchers have shown that the immunosuppressant everolimus provides a potential new treatment option for patients with tuberous sclerosis and associated angiomyolipomas. [More]
New laser surgical technique appears to be safe and effective in treating epilepsy

New laser surgical technique appears to be safe and effective in treating epilepsy

A developing new laser surgical technique for epilepsy appears to be safe and effective and reduces hospital stays to one or two days, according to two research reports presented today during the American Epilepsy Society 66th Annual Meting at the San Diego Convention Center. [More]
Novartis to highlight key data from extensive oncology portfolio at SABCS and ASH meeting

Novartis to highlight key data from extensive oncology portfolio at SABCS and ASH meeting

Novartis will highlight more than 140 presentations on key data from its extensive oncology portfolio at the leading year-end scientific meetings devoted to hematology and breast cancer, demonstrating continued innovation in research and development efforts to advance the care of patients with cancer and rare diseases. [More]
Boston and Cincinnati Children's Hospital to learn more about how autism develops

Boston and Cincinnati Children's Hospital to learn more about how autism develops

A network of five leading medical centers, led by Cincinnati Children's Hospital Medical Center and Boston Children's Hospital, has received a five-year, $12.5 million National Institutes of Health (NIH) grant to learn more about how autism develops. [More]
Tuberous sclerosis complex lesions respond well to everolimus in EXIST

Tuberous sclerosis complex lesions respond well to everolimus in EXIST

Results from two phase III trials demonstrate significantly better skin lesion reduction with everolimus than placebo in patients with tuberous sclerosis complex. [More]
Molecular disruptions in granule cells cause epileptic seizures in mice

Molecular disruptions in granule cells cause epileptic seizures in mice

Scientists have discovered the first direct evidence that a biological mechanism long suspected in epilepsy is capable of triggering brain seizures – opening the door for studies to seek improved treatments or even preventative therapies. [More]