Tuberous Sclerosis News and Research

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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.
Drug treatment at a young age could help reverse autism-like behavior in tuberous sclerosis

Drug treatment at a young age could help reverse autism-like behavior in tuberous sclerosis

Study reveals molecular mechanisms underlying expansive arterial remodeling

Study reveals molecular mechanisms underlying expansive arterial remodeling

Skin cream containing rapamycin reduces TSC-related facial tumors

Skin cream containing rapamycin reduces TSC-related facial tumors

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

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

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

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

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

Autism treatment: Social impairments can be corrected by brain stimulation

Autism treatment: Social impairments can be corrected by brain stimulation

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

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

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

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

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

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

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

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

Infantile spasms and multiple sclerosis relapse data presented at AAN

Infantile spasms and multiple sclerosis relapse data presented at AAN

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

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

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

Researchers identify 43 specific genes associated with both autism and cancer

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

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