TSC1 News and Research

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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

Deleting a single gene results in autism-like behavior

Deleting a single gene in the cerebellum of mice can cause key autistic-like symptoms, researchers have found. They also discovered that rapamycin, a commonly used immunosuppressant drug, prevented these symptoms.

2 Jul 2012

FDA approves Novartis’ Afinitor for treatment of renal angiomyolipomas and TSC

Novartis Pharmaceuticals Corporation announced today that the US Food and Drug Administration (FDA) approved Afinitor (everolimus) tablets for the treatment of adult patients with kidney tumors known as renal angiomyolipomas and tuberous sclerosis complex (TSC), who do not require immediate surgery.

27 Apr 2012

Afinitor Phase III study on angiomyolipomas associated with TSC meets primary endpoint

A Phase III study of Afinitor (everolimus) tablets in patients with non-cancerous kidney tumors, or angiomyolipomas, associated with tuberous sclerosis complex (TSC) met its primary endpoint of best overall angiomyolipoma response rate, which includes reduction in kidney tumor size and absence of new tumors.

26 Sep 2011

Scientists identify key immune system regulator in white blood cells

St. Jude Children's Research Hospital scientists provide insight into immune system biology and identify the mechanism that keeps white blood cell activity at a minimum until the specific immune response is needed.

18 Jul 2011

Novartis Afinitor Phase III trial on tuberous sclerosis meets primary endpoint

Novartis Pharmaceuticals Corporation announced today Phase III trial results that showed more than one-third of patients taking Afinitor tablets experienced a 50% or greater reduction in the size of their subependymal giant cell astrocytomas, non-cancerous brain tumors associated with tuberous sclerosis complex.

8 Jul 2011

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

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

Prenatal molecular diagnosis for tuberous sclerosis complex

Geneticists from Boston University School of Medicine (BUSM) have reported the world's first series of cases of prenatal diagnosis for women at risk of having a child with tuberous sclerosis complex (TSC).

2 Mar 2009

Silencing growth inhibitors could help recovery from brain injury

Silencing natural growth inhibitors may make it possible to regenerate nerves damaged by brain or spinal cord injury, finds a study from Children's Hospital Boston.

7 Nov 2008

Chemical first found on Easter Island could treat tuberous sclerosis

A new study has shown promising results in fighting a severe genetic disorder which can create tumours throughout the body.

11 Jan 2008

New pathway for inflammation-induced cancer

A well-known inflammatory protein spawns an enzyme that inactivates two tumor-suppressing genes, ultimately triggering production of new blood vessels to nourish breast cancer cells, researchers at The University of Texas M. D. Anderson Cancer Center report in the August edition of the journal Cell .

11 Aug 2007