Tuberous Sclerosis News and Research

Latest Tuberous Sclerosis News and Research

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.

25 Jan 2016

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.

15 Dec 2015

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.

16 Oct 2015

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.

22 Sep 2015

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.

5 May 2015

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.

19 Dec 2014

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.

5 Dec 2014

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.

6 Nov 2014

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.

11 Jul 2014

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.

28 Jan 2014

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.

9 Dec 2013

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).

4 Dec 2013

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).

23 Oct 2013

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).

24 Sep 2013

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.

16 Jul 2013

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).

27 Jun 2013

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.

25 Apr 2013

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.

27 Feb 2013

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).

13 Feb 2013

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.

25 Jan 2013