Tuberous Sclerosis News and Research

Latest Tuberous Sclerosis News and Research

Study reveals molecular mechanisms underlying expansive arterial remodeling

Expansive arterial remodeling comprises a genetically programmed biological response designed to restore homeostatic levels of arterial wall stress after an increase in vessel flow load occurs.

25 Aug 2018

Skin cream containing rapamycin reduces TSC-related facial tumors

Addressing a critical issue for people with a genetic disorder called tuberous sclerosis complex, doctors at The University of Texas Health Science Center at Houston reported that a skin cream containing rapamycin significantly reduced the disfiguring facial tumors affecting more than 90 percent of people with the condition.

23 May 2018

Scientists reveal mechanisms that may help preterm infants extend nephron development window

Nephrons are the microscopic blood-filtering units inside our kidneys that convert waste products into urine, regulate our electrolyte levels and our blood pressure.

22 May 2018

Scientists develop new drug for treating skin lesions in rare intractable disease

Scientists at Osaka University developed a new drug treating skin lesions in tuberous sclerosis complex (TSC), a rare intractable disease, a world first.

5 Apr 2018

Lab-grown cerebellar cells may help explain how ASD develops at molecular level

Increasing evidence has linked autism spectrum disorder with dysfunction of the brain's cerebellum, but the details have been unclear. In a new study, researchers at Boston Children's Hospital used stem cell technology to create cerebellar cells known as Purkinje cells from patients with tuberous sclerosis complex, a genetic syndrome that often includes ASD-like features.

19 Feb 2018

Autism treatment: Social impairments can be corrected by brain stimulation

Scientists are examining the feasibility of treating autistic children with neuromodulation after a new study showed social impairments can be corrected by brain stimulation.

13 Dec 2017

ATS and JRS publish new guidelines for diagnosis and management of LAM

The American Thoracic Society and the Japanese Respiratory Society have published additional clinical practice guidelines regarding four specific questions related to the diagnosis of lymphangioleiomyomatosis (LAM) and management of pneumothoraces in patients with LAM.

15 Nov 2017

New tissue-chip research aims to speed drug development for two genetic forms of epilepsy

An interdisciplinary team of Vanderbilt University researchers has received a two-year, $2-million federal grant to develop an "organ-on-chip" model for two genetic forms of epilepsy. These disorders affect both brain and heart and improved modeling could lead to new drug treatments.

22 Sep 2017

Multigene panel test could be useful to detect patients with hereditary kidney cancer syndrome

A multigene panel test could be a useful diagnostic tool to help clinicians identify patients with a hereditary kidney cancer syndrome, according to the results of a study published in Cancer.

13 Sep 2017

NIH awards $15 million to develop 3D microphysiological system platforms that model human disease

More than 60 percent of investigational drugs fail in human clinical trials due to a lack of effectiveness, despite promising pre-clinical studies using cell and animal research models.

13 Sep 2017

New tool can identify infants with tuberous sclerosis complex at increased risk of developing ASD

A tool intended to detect signs of autism in high-risk infants can be used to help identify and treat patients with tuberous sclerosis complex (TSC), a genetic disorder, who most need early intervention. Moreover, they can identify these patients earlier than ever before.

17 Jul 2017

Study links heart failure biomarker to tumors observed in rare genetic diseases

Galectin-3, a protein that promotes cancer cell growth and is used as a biomarker for heart failure, has been linked to tumors observed in two rare genetic diseases, according to a study published July 11, 2017, in eLife.

11 Jul 2017

New clinical study aims to prevent onset of epilepsy in children with tuberous sclerosis

A clinical trial of a drug that researchers hope can prevent or delay the onset of epilepsy in children with tuberous sclerosis has begun at McGovern Medical School at The University of Texas Health Science Center at Houston.

8 May 2017

Infantile spasms and multiple sclerosis relapse data presented at AAN

Mallinckrodt plc, a specialty pharmaceutical company, announced new results from two company-sponsored studies: one study on use of H.P. Acthar® Gel (repository corticotropin injection) in patients with infantile spasms (IS) and a second study on the economic burden of moderate-to-severe multiple sclerosis (MS) relapse.

2 May 2017

Study suggests new ways to treat neurological symptoms linked to tuberous sclerosis complex

Boston Children's Hospital researchers have uncovered a new molecular pathway that inhibits the myelination of neurons in the brains of patients with the rare genetic disorder tuberous sclerosis complex.

9 Feb 2017

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.

6 Oct 2016

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.

8 Jun 2016

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.

4 May 2016

'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.

16 Mar 2016

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).

18 Feb 2016

Tuberous Sclerosis News and Research

Latest Tuberous Sclerosis News and Research

Study reveals molecular mechanisms underlying expansive arterial remodeling

Skin cream containing rapamycin reduces TSC-related facial tumors

Scientists reveal mechanisms that may help preterm infants extend nephron development window

Scientists develop new drug for treating skin lesions in rare intractable disease

Lab-grown cerebellar cells may help explain how ASD develops at molecular level

Autism treatment: Social impairments can be corrected by brain stimulation

ATS and JRS publish new guidelines for diagnosis and management of LAM

New tissue-chip research aims to speed drug development for two genetic forms of epilepsy

Multigene panel test could be useful to detect patients with hereditary kidney cancer syndrome

NIH awards $15 million to develop 3D microphysiological system platforms that model human disease

New tool can identify infants with tuberous sclerosis complex at increased risk of developing ASD

Study links heart failure biomarker to tumors observed in rare genetic diseases

New clinical study aims to prevent onset of epilepsy in children with tuberous sclerosis

Infantile spasms and multiple sclerosis relapse data presented at AAN

Study suggests new ways to treat neurological symptoms linked to tuberous sclerosis complex

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

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

Researchers identify 43 specific genes associated with both autism and cancer

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

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

Achieving and maintaining ISO 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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

Tuberous Sclerosis News and Research

Latest Tuberous Sclerosis News and Research

Achieving and maintaining ISO 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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

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