Research

There is a variety of published and ongoing research into Timothy Syndrome.

The more doctors, paediatricians and geneticists that are aware of TS, the better the diagnosis, treatment and care will be for children with the condition.

Guiding new treatment strategies using induced pluripotent stem cells (iPSCs)

Ivy Dick, Assistant Professor, University of Maryland School of Medicine

New models to study Timothy Syndrome

Geoffrey Pitt, Ida and Theo Rossi Distinguished Professor of Medicine, Director of the Cardiovascular Research Institute

Studying genetic variants in “the worm”

Andy Golden, PhD, Section Chief: Genetics of Early Development, Laboratory of Biochemistry and Genetics, The National Institute of Diabetes and Digestive and Kidney Diseases Health Information Center

Simulating common causes of Timothy syndrome in worms

Rosie Bauer, Post-baccalaureate Intramural Research Training Awardee, National Institutes of Health

Uncovering the mysteries of human CACNA1C using new technologies

Elizabeth Tunbridge, Associate Professor, Oxford University

Studying patients with Timothy Syndrome

Dr Mark Walsh MB BCh BAO, MRCPCH, MRCPI, Paediatric Cardiologist & Heart Rhythm Specialist

New neuroscience methods and Timothy syndrome

Professor Jeremy Hall, Director of Division of Psychiatry and Clinical Neuroscience, Director of Neuroscience and Mental Health Research Institute, Hon. Consultant Psychiatrist, Cardiff University

Professor Adrian Harwood, PhD, FRSB, Co-Director of Research, Co-Director of the Neuroscience and Mental Health Research Institute, Cardiff University

The link between mutations in CACNA1C and Timothy syndrome symptoms

Gemma Wilkinson, Research student, Cardiff University

Studying the neuropsychiatric spectrum of Timothy Syndrome, from cells to patients

Sergiu Pasca, MD, Associate Professor of Psychiatry and Behavioral Sciences and
Bonnie Uytengsu and Family Director of the Stanford Brain Organogenesis

Rebecca Levy, MD PhD, neurogenetics fellow

Predicting disease risk based on alteration of calcium channel signalling may explain the mechanism of Autism Spectrum Disorder

Daphne Atlas, Ph.D. M.Sc, Professor of Neurochemistry, Dept. of Biological Chemistry, Institute of Life Sciences, The Hebrew University of Jerusalem

Help us fund more research

Your donations help us engage with more people in the scientific community.

Your contribution will help:

  • raise awareness to drive research and clinical development
  • enhance scientific understanding
  • reduce the isolation faced by families

With your help, treatment and a cure for future generations is closer to being found.

See other ways that you can support us.