TSC Matters

Archive for the ‘Research Updates’ Topic

TSC Researcher Spotlight – Katarzyna “Kasia” Klonowska

Katarzyna “Kasia” Klonowska, PhD, is a 2020 recipient of the TSC Alliance® Postdoctoral Fellowship Award. Kasia is a post-doctoral fellow in the laboratory of David Kwiatkowski, MD, PhD at Brigham and Women’s Hospital. Postdoctoral Fellowship awards are intended to provide funding for an individual who has recently earned a PhD or MD degree and support any type of basic or translational research relevant to tuberous sclerosis complex (TSC) that provides an outstanding opportunity for the trainee’s professional growth. Read More

TSC Researcher Spotlight – Felix Chan, PhD

The Developmental Synaptopathies Consortium (DSC) is composed of a group of medical centers throughout the US studying three related rare genetic syndromes that often cause autism spectrum disorder and intellectual disability, including tuberous sclerosis complex (TSC). These rare diseases seem to affect certain shared pathways influencing the development of brain connections, or synapses. In May, Felix Chan, PhD, received the DSC’s first-ever TSC Alliance Young Investigator Award. Felix is a post-doctoral fellow in the laboratory of Judy Liu, MD, PhD in the Department of Molecular, Cellular Biology and Biochemistry at Brown University. The TSC Alliance Young Investigator Award is a... Read More

Curing the Epilepsies Conference Summary

The National Institute of Neurological Disorders and Stroke (NINDS) has sponsored a Curing the Epilepsies conference every seven years in 2000, 2007, and 2013. A major outcome of these conferences has been the Epilepsy Research Benchmarks, which reflect priorities for research across the epilepsy community. The conference planned for April 2020 was impossible to hold in person due to the coronavirus pandemic. Therefore, the American Epilepsy Society Epilepsy Research Benchmarks Committee revised the benchmarks with community input via a crowdsourcing discussion platform. Read More

Participate in the TSC Biosample Repository Project

To better understand why people are impacted so differently by this disorder and with the aim to eventually be able to better predict its course, our organization invested in a TSC Biosample Repository and Natural History Database. This video demonstrates how we collaborate with TSC individuals and families as well as partners like Seizure Tracker and how other advocacy groups might also consider collecting data in innovative ways. LEARN MORE Read More

Have You or Your Loved One with TSC Been Diagnosed with COVID-19?

The TSC Alliance is reaching out to individuals with TSC who had COVID-19 infection to collect information in the TSC Natural History Database. TSC researchers will be using this information to help determine how medications such as everolimus (Afinitor®, Zortress®) or sirolimus (Rapamune®) and TSC conditions affect the risk of getting COVID-19 and its severity. Read More

We are Seeking Volunteers for the TSC Biosample Repository

The purpose of this research project is to collect a sample of blood, tissue, fluid or other types of bodily samples from children and adults with tuberous sclerosis complex (TSC). These samples and medical information about how this genetic disorder affects you will be made available to TSC researchers to better understand TSC and hopefully other diseases such as epilepsy or autism. Read More