Ewch i’r prif gynnwys

NHMRI co-hosts successful annual Brain Research Conference for a worldwide audience

30 June 2021

An impression of synapses in the brain

The Timothy Syndrome Alliance (TSA) and the Neuroscience and Mental Health Research Institute (NMHRI) hosted the annual Brain Research Conference online for 2021.

The conference gave attendees the latest insight into Timothy Syndrome (TS) research delivered by seven leading figures in the field.

A worldwide attendance saw families with TS or CACNA1C gene variants and researchers drawn in from as far east as Malaysia to as far west as California.

NMHRI fellow Dr. Jack Underwood and TSA Chair Sophie Muir hosted the conference, with introductions from NMHRI director Professor Jeremy Hall.

"It’s a great privilege to be able to host the TSA annual meeting again. These events offer an opportunity for families with this rare disorder to come together from around the globe, make connections and hear about the latest advances in understanding it."
Dr Jack Underwood Wellcome Trust GW4-CAT Clinical Research Fellow, NMHRI

Sophie added, “We’re absolutely delighted with the energy, collaboration and research all coming together to drive the understanding of this incredibly complex gene.

“It’s crucial for families that this knowledge is now reflected in clinical settings and genetic laboratories.”

The conference began with a talk from Gemma Wilkinson, who discussed using patient-derived calls to investigate Timothy Syndrome, a rare genetic condition caused by changes to CACNA1C.

Changes to DNA sequences are called variants, and these variants alter the function of a gene and consequently affect a person’s health and development.

Talks throughout the conference focused on research within CACNA1C, including a session from Dr. Underwood, before a concluding discussion from Dr Rebecca Levy.

Questions from attendees were taken in between talks, sparking in-depth conversation and constructive interaction between speakers and guests.

Katherine Timothy, founder of TSA, said, “The Brain and TSA research conference was wonderful, with four hours of the newest research information on CACNA1C and Timothy Syndrome shared.

“I’ve waited for years for researchers to study neuronal issues observed in TS in-depth and I’m very pleased with the collaborative efforts now being undertaken with Dr. Jeremy Hall and his associates, Dr. Liz Turnbridge and the Stanford University group.”

When the TSA was founded in 1999 there were few known cases of TS throughout the world, today, the Brain conference demonstrates great progress by bringing the latest in TS research directly to families.

Dr. Underwood highlighted, “Meeting the families and hearing their thoughts and hopes provides meaning to our research, and is leading to discussions, partnerships and international collaborations among researchers investigating TS and CACNA1C-related disorders.”

Katherine added her thanks to everyone involved, “This collaborative effort is so needed for the children who are challenged by TS and CACNA1C-related disorders. Thank you.”

Find out more about the Timothy Syndrome Alliance.

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