Monthly Archives: May 2021

Episode 24: Achieving Universal Health Coverage and Driving Innovative Research Through Global Collaboration



It’s the two-year anniversary of TSC Now and we’re celebrating with a new name, the TSC Alliance! If you missed our announcement on May 16, the Tuberous Sclerosis Alliance has changed our name to the TSC Alliance to reflect how the organization has evolved over the years and with the name change we also have a new logo, new branding and a new tagline, “Hope no matter how complex.” Learn more about this evolution.

In recognition of #TSCGlobalDay and TSC Awareness Month, host Dan Klein learns about two global collaborative projects aimed at improving the lives of those living with rare diseases around the world. First, he talks to Matt Bolz-Johnson (02:44), Programme Director of the Collaborative Global Network for Rare Diseases at Rare Diseases International (RDI), who is leading a partnership with the World Health Organization to develop the first Collaborative Global Network for Rare Diseases. RDI envisions a world where people living with a rare disease, no matter where they live, can reach a network of expertise for accurate and timely diagnosis and appropriate care and believe that to strengthen health systems to address the needs of the 300 million people worldwide living with a rare disease requires common strategies and action at the national, regional and global level. The TSC Alliance and the TSC Alliance of India have partnered with RDI to help advance this project and Dan and Matt discuss how advocacy organizations play a vital role in the global network model.

Then, Dan catches up with Professor Petrus de Vries, MBChB, FRCPsych, PhD, Sue Struengmann Professor of Child & Adolescent Psychiatry at the University of Cape Town, South Africa, and Professor Anna Jansen, MD, PhD, Pediatric Neurologist at Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel in Belgium (18:12). Petrus and Anna are Principal and Co-Principal Investigators of the TANDem Project, an international effort to improve the lives of families dealing with TSC-associated neuropsychiatric disorders (TAND) through the development of technology empowering families to self-administer the TAND checklist and access tools to address specific TAND manifestations. They provide an update on the project, what they’ve learned through the first year and a half working with the various clusters, and what the timeline and aims are for the future.

Thank you to everyone who has listened and supported TSC Now over the last two years, we will continue to work hard to provide entertaining and valuable content for families and individuals affected by tuberous sclerosis complex.

Resources and Links


Episode 23: Autism Spectrum Disorder in TSC and TACERN



In Episode 23 of TSC Now, host Dan Klein recognizes World Autism Month and Autism Acceptance Month by learning more about autism spectrum disorder (ASD) in tuberous sclerosis complex (TSC). ASD occurs in nearly 50% of children with TSC, significantly higher the rate in the general population (roughly 1% worldwide). Additionally, there is a very clear link between ASD and cognitive impairment in TSC.

To better understand the connection between autism and TSC, and how ongoing research can help expand our knowledge of autism not just in TSC, but more generally, Dan spoke to Mustafa Sahin, MD, PhD, (02:11) Director of both the Translational Neuroscience Center and the Multi-Disciplinary Tuberous Sclerosis Program at Boston Children’s Hospital, and Professor of Neurology at Harvard Medical School. Dr. Sahin is one of the Principal Investigators of the TSC Autism Center of Excellence Research Network, otherwise known as TACERN. TACERN is a coalition of five research hospitals: Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of California at Los Angeles and University of Texas at Houston. The group was formed in 2012 and received a grant from the NIH to better understand autism in TSC and to identify potential biomarkers that could predict what children were at higher risk of cognitive manifestations. From that initial grant 80 papers have been published on a wide range of discoveries in TSC. Dr. Sahin shares some of the discoveries from the last decade, how discoveries made in autism in TSC have wider implications for autism in general, the current progress on identifying biomarkers, and what questions remain.

Finally, we are officially two weeks away from the Step Forward to Cure TSC® Global Virtual Walk-Run-Ride on May 15 and 16, coinciding with TSC Global Awareness Day. This historic, world-wide event will bring together thousands of people from across the globe, all working together to champion the Tuberous Sclerosis Alliance’s efforts to fund groundbreaking research, offer critically needed support programs and increase awareness. Our goal is to raise $700,000 toward that mission, and there is still time for you to donate, register and fundraise to help us hit that goal. However you participate, your support makes a tangible difference in the lives of everyone with TSC. Learn the many ways you can get involved at www.stepforwardtocuretsc.org. Thank you to both the National and Local sponsors for championing this amazing event!

National Sponsors

Local Sponsors

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