Tuberous Sclerosis

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.

What is Tuberous Sclerosis?

Tuberous sclerosis is a genetic disease that causes benign tumors to develop in different parts of the body.

Tuberous Sclerosis Epidemiology

Tuberous Sclerosis Pathophysiology

Latest Tuberous Sclerosis News and Research

Exploring the link between prenatal nutrition and congenital craniofacial malformations

The complex development of craniofacial skeletal structures and improve treatments for congenital craniofacial malformations.

27 Mar 2024

Study deciphers how misfolded protein drives dopaminergic neuron loss in Parkinson's

A so-called pathological protein long associated with Parkinson's disease has been found in a new study to trigger cells to increase protein synthesis, an event that eventually kills the subset of brain cells that die off in this neurodegenerative condition.

20 Dec 2023

Breakthrough in Parkinson's research: Scientists identify protein synthesis pathway as culprit

19 Dec 2023

Experts shed light on how autism affects the diagnosis, treatment of epilepsy and vice versa

Compared with the general population, epilepsy is more common in people with autism-;and autism is more common in people with epilepsy. How can autism affect the diagnosis and treatment of epilepsy, and vice versa? Joy Mazur spoke to Dr. Colin Reilly and Dr. Stéphane Auvin.

17 Nov 2023

Research opens the door for better use of people's own immune system T cells to fight cancer

Using laboratory-grown cells from humans and genetically engineered mice, scientists at Johns Hopkins Medicine say they have evidence that modifying a specific protein in immune white blood cells known as CD8+ T cells can make the cells more robust, potentially opening the door for better use of people's own immune system T cells to fight cancer.

3 Oct 2023

Ketogenic diets, gut microbiota, and health effects

The evidence on ketogenic diets (KDs) from the past three decades.

24 Aug 2023

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

The genetic etiology by whole-exome sequencing (WES).

23 Aug 2023

UC researchers discover treatment for a rare cancer-like lung disease in women

A treatment for a rare cancer-like lung disease found in women of childbearing age may have been discovered by University of Cincinnati researchers.

15 Jun 2023

What are the frequency and risk of adverse events developing in patients with epilepsy who are using CBD?

Researchers evaluated epilepsy patients to evaluate cannabidiol use-related adverse events.

24 Apr 2023

What is the impact of oral cannabidiol on simulated driving?

Researchers assessed the impact of cannabidiol on the driving performance of humans.

6 Mar 2023

Researchers identify novel gene mechanism in most aggressive kidney cancers

In a new study from the Johns Hopkins Kimmel Cancer Center, researchers described a novel mechanism of tumor formation in kidney cancers driven by overexpression of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway with loss of the tuberous sclerosis complex (TSC) tumor suppressor gene.

3 Jan 2023

Cannabidiol and the shifting perspective of epilepsy drug discovery

Researchers discuss the research hat contributed to cannabidiol as a potential antiseizure medication in the 21st century.

29 Nov 2022

Study examines cannabidiol's effect on simulated driving

Researchers use simulated driving performance to investigate whether drowsiness induced by the medical use of cannabidiol had an impact on safe driving.

29 Nov 2022

Prenatal exposure to high-dose folic acid linked to cancer risk in children of mothers with epilepsy

High-dose folic acid is protective against congenital malformations if the mother is at particular risk of having a child with congenital malformations.

27 Sep 2022

Genetically engineered kidney organoids solve mystery of a rare disease

Researchers have solved a medical mystery in a poorly understood disease by uncovering which cells cause tumors in patients with tuberous sclerosis complex (TSC).

6 Jul 2022

Pioneering study could transform the treatment landscape for babies with infantile spasms

Infantile spasm (IS) is a severe epileptic syndrome of infancy and accounts for 50% of all epilepsy cases that occur in babies during the first year of life.

20 May 2022

Epilepsy drug inhibits the growth of NF1 tumors in mice

People with neurofibromatosis type 1 (NF1) develop tumors on nerves throughout their bodies. These tumors are usually benign -; meaning they don't spread to other parts of the body and are not considered life-threatening -; but they can still cause serious medical problems such as blindness, especially when they form in the brain and nerves.

19 May 2022

Intervention during the first five weeks of life prevents autism symptoms from ever developing in mice

Timing is key when treating developmental disorders. Blocking an overactive signaling pathway during the first five weeks of life prevents autism symptoms from ever developing in mice, according to new research published in JNeurosci.

21 Feb 2022

Researchers discover why people with asthma have lower brain tumor risk

There's not much good that can be said about asthma, a breathing disease in which the airways become narrowed and inflamed.

11 Dec 2021

Study discourages use of non-standard therapies for infantile spasms

Children with infantile spasms, a rare form of epileptic seizures, should be treated with one of three recommended therapies and the use of non-standard therapies should be strongly discouraged, according to a study of their effectiveness by a Weill Cornell Medicine and NewYork-Presbyterian investigator and collaborating colleagues in the Pediatric Epilepsy Research Consortium. Early treatment with an effective therapy is important for improving neurodevelopmental outcomes and, for some children, can result in permanent remission of epilepsy.

28 Aug 2021

Tuberous Sclerosis

Overview

Tuberous Sclerosis Symptoms

Tuberous Sclerosis Diagnosis

Tuberous Sclerosis Genetics

Feature Articles

Tuberous Sclerosis Epidemiology

Tuberous Sclerosis Pathophysiology

Tuberous Sclerosis Prognosis

Latest Tuberous Sclerosis News and Research

Exploring the link between prenatal nutrition and congenital craniofacial malformations

Study deciphers how misfolded protein drives dopaminergic neuron loss in Parkinson's

Breakthrough in Parkinson's research: Scientists identify protein synthesis pathway as culprit

Experts shed light on how autism affects the diagnosis, treatment of epilepsy and vice versa

Research opens the door for better use of people's own immune system T cells to fight cancer

Ketogenic diets, gut microbiota, and health effects

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

UC researchers discover treatment for a rare cancer-like lung disease in women

What are the frequency and risk of adverse events developing in patients with epilepsy who are using CBD?

What is the impact of oral cannabidiol on simulated driving?

Researchers identify novel gene mechanism in most aggressive kidney cancers

Cannabidiol and the shifting perspective of epilepsy drug discovery

Study examines cannabidiol's effect on simulated driving

Prenatal exposure to high-dose folic acid linked to cancer risk in children of mothers with epilepsy

Genetically engineered kidney organoids solve mystery of a rare disease

Pioneering study could transform the treatment landscape for babies with infantile spasms

Epilepsy drug inhibits the growth of NF1 tumors in mice

Intervention during the first five weeks of life prevents autism symptoms from ever developing in mice

Researchers discover why people with asthma have lower brain tumor risk

Study discourages use of non-standard therapies for infantile spasms

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

Overview

Feature Articles

Tuberous Sclerosis Epidemiology

Tuberous Sclerosis Pathophysiology

Tuberous Sclerosis Prognosis

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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