Tuberous Sclerosis News and Research

Latest Tuberous Sclerosis News and Research

New edition of Sturge-Weber Syndrome textbook published

Eleven years after the first edition, a new edition of the Sturge-Weber Syndrome textbook has been published by the Sturge-Weber Foundation in New Jersey. Co-author E. Steve Roach, MD, is chief of Neurology and vice-chair of Pediatrics at Nationwide Children's Hospital.

4 Oct 2010

Circadian partners with Cincinnati Children's Hospital to develop blood test diagnostic for LAM, a serious lung disease

Circadian Technologies (ASX.CIR) has announced today that it has partnered with Cincinnati Children’s Hospital Medical Centre (CCHMC) to develop and market a blood test to diagnose LAM, a serious lung disease that strikes women, usually in their child bearing years.

29 Sep 2010

BMC physicians to lead international research collaboration to curb infectious diseases

Boston Medical Center (BMC) has been chosen to lead an investigation aimed at developing novel approaches to prevent tuberculosis (TB). Jerrold J. Ellner, MD, chief of the section of infectious diseases at BMC and professor of medicine at the Boston University School of Medicine (BUSM), a renowned expert in the field, will serve as principal investigator (PI) on the five-year, $3 million grant funded by the National Institutes of Health (NIH).

27 Sep 2010

ISWG researchers establish guidelines for diagnosis and treatment of infantile spasms

Researchers from across the U.S., as part of the Infantile Spasms Working Group (ISWG), established guidelines for the diagnosis and treatment of infantile spasms (IS). The goal of the ISWG is to improve patient outcomes by creating protocols that educate pediatricians on early diagnosis and treatment options. Full details of this study appear online in Epilepsia, a journal published by Wiley-Blackwell on behalf of the International League Against Epilepsy.

3 Sep 2010

New blood test eliminates need for surgical lung biopsy for LAM diagnosis

Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found that a certain blood test can successfully identify lymphangioleiomyomatosis (LAM) in some patients, eliminating the need for surgical lung biopsy to make a diagnosis.

6 Jul 2010

Novartis' Afinitor decreases size of SEGAs associated with tuberous sclerosis

Novartis Pharmaceuticals Corporation announced today that results from a Phase II study show Afinitor® (everolimus) tablets is the first medication in a clinical trial to decrease the size of subependymal giant cell astrocytomas (SEGAs), benign brain tumors associated with tuberous sclerosis (TS). In this study of 28 patients presented today at the 46th American Society of Clinical Oncology (ASCO) annual meeting in Chicago, 75% of patients experienced a reduction of 30% or greater in the size of their brain tumors from baseline to six months (p<0.001).

7 Jun 2010

Mutations in STRAD-alpha gene can cause PMSE syndrome in Amish children: Penn researchers

So often the rare informs the common. Penn researchers investigating a regulatory protein involved in a rare genetic disease have shown that it may be related to epileptic and autistic symptoms in other more common neurological disorders.

12 May 2010

Researchers explore role of ECoG measurement to improve brain mapping technology

Epilepsy and seizures affect nearly 3 million Americans of all ages, with 200,000 new cases of seizures and epilepsy occurring each year. Epilepsy surgery may be performed in patients who have seizures associated with structural brain abnormalities, such as benign brain tumors and cortical dysplasia, malformations of blood vessels, the genetic disorder tuberous sclerosis, and strokes.

4 May 2010

CINJ: Common genetic variation impacts diagnosis of breast cancer in postmenopausal women

Researchers from The Cancer Institute of New Jersey are converging on Washington, D.C., this week for the 101st Annual Meeting of the American Association for Cancer Research (AACR) to share their findings on how a common genetic variation can impact diagnosis of breast cancer in postmenopausal women.

20 Apr 2010

World's largest autism science and advocacy organization awards 16 new research grants

Autism Speaks, the world's largest autism science and advocacy organization, today announced the awarding of 16 new research grants totaling $5,223,743 over the next three years.

9 Apr 2010

Study: Chromosomal microarray analysis detects genetic changes related to ASDs better than standard tests

A large study from Children's Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests. Publishing in the April issue of Pediatrics (and online March 15), the authors urge that CMA become part of the first-line genetic work-up for ASDs.

15 Mar 2010

ATM tumor-suppressor also recognizes damage caused by ROS and orders autophagy

ATM, a protein that reacts to DNA damage by ordering repairs or the suicide of the defective cell, plays a similar, previously unknown role in response to oxidative damage outside of the nucleus, researchers report this week in the online version of the Proceedings of the National Academy of Sciences.

19 Feb 2010

Autism Speaks: Ten most significant autism research achievements in 2009

Autism Speaks, the world's largest autism science and advocacy organization has released its annual list of the 10 most significant research achievements to have impacted autism during the previous year. Every year, Autism Speaks documents the progress made toward its mission to discover the causes and treatment for autism spectrum disorders, and compiles a list of the 10 most significant research achievements to have impacted autism during the previous year.

10 Feb 2010

UCLA's non-invasive pre-surgical testing approach leads to seizure-free surgical outcome in TSC patients

When medication fails to control seizures in children with tuberous sclerosis complex (TSC), a rare genetic disorder that affects multiple organ systems and frequently causes epilepsy, surgery to remove part of the brain is often necessary. But pre-surgical testing, which involves the implanting of electrodes into a child's head, can lead to longer hospital stays and greater risks from surgery.

29 Jan 2010

Health Canada approves Novartis' Afinitor to treat patients with mRCC

Novartis Pharmaceuticals Canada Inc. (Novartis) announced today that Afinitor(R) (everolimus), a once-daily oral cancer treatment, has been approved by Health Canada for patients with metastatic renal cell carcinoma (mRCC), also known as advanced kidney cancer, after failure of initial treatment with VEGF-receptor targeted therapies Sutent(R) (sunitinib) or Nexavar(R) (sorafenib).

20 Jan 2010

Autism spectrum disorders result from miswiring of connections in developing brain

Studying a rare disorder known as tuberous sclerosis complex (TSC), researchers at Children's Hospital Boston add to a growing body of evidence suggesting that autism spectrum disorders, which affect 25 to 50 percent of TSC patients, result from a miswiring of connections in the developing brain, leading to improper information flow.

10 Jan 2010

TSC proteins regulate Notch activity

Two independent teams of researchers have identified a role for enhanced activation of the signaling protein Notch in tumors characterized by inactivation of either the TSC1 or the TSC2 protein. As indicated by Warren Pear, at the University of Pennsylvania, Philadelphia, in an accompanying commentary, these data provide a rationale for testing whether Notch inhibitors are of benefit to those with TSC-associated tumors.

29 Dec 2009

New data demonstrating the strength of Novartis' hematology portfolio to be presented

Novartis announced today that new data, including a late-breaking presentation on Tasigna® (nilotinib) 200 mg capsules in a form of chronic myeloid leukemia, demonstrate the strength of the company's hematology portfolio in advancing the care of patients.

2 Dec 2009

Autism Consortium holds its fourth annual symposium to update on autism

The Autism Consortium, an innovative collaboration of researchers, clinicians, funders and families dedicated to catalyzing research and enhancing clinical care for autism spectrum disorders (ASDs), held its fourth annual symposium on October 28th, 2009, at Harvard Medical School in Boston.

6 Nov 2009

Pilot program to fight drug-resistant tuberculosis in South African communities examined by New York Times

The New York Times examines a Doctors Without Borders pilot program to fight drug-resistant tuberculosis in South Africa that allows patients to stay in their homes rather than be isolated in hospital during treatment.

30 Jul 2009

Tuberous Sclerosis News and Research

Latest Tuberous Sclerosis News and Research

New edition of Sturge-Weber Syndrome textbook published

Circadian partners with Cincinnati Children's Hospital to develop blood test diagnostic for LAM, a serious lung disease

BMC physicians to lead international research collaboration to curb infectious diseases

ISWG researchers establish guidelines for diagnosis and treatment of infantile spasms

New blood test eliminates need for surgical lung biopsy for LAM diagnosis

Novartis' Afinitor decreases size of SEGAs associated with tuberous sclerosis

Mutations in STRAD-alpha gene can cause PMSE syndrome in Amish children: Penn researchers

Researchers explore role of ECoG measurement to improve brain mapping technology

CINJ: Common genetic variation impacts diagnosis of breast cancer in postmenopausal women

World's largest autism science and advocacy organization awards 16 new research grants

Study: Chromosomal microarray analysis detects genetic changes related to ASDs better than standard tests

ATM tumor-suppressor also recognizes damage caused by ROS and orders autophagy

Autism Speaks: Ten most significant autism research achievements in 2009

UCLA's non-invasive pre-surgical testing approach leads to seizure-free surgical outcome in TSC patients

Health Canada approves Novartis' Afinitor to treat patients with mRCC

Autism spectrum disorders result from miswiring of connections in developing brain

TSC proteins regulate Notch activity

New data demonstrating the strength of Novartis' hematology portfolio to be presented

Autism Consortium holds its fourth annual symposium to update on autism

Pilot program to fight drug-resistant tuberculosis in South African communities examined by New York Times

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

Tuberous Sclerosis News and Research

Latest Tuberous Sclerosis News and Research

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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