Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.

Millions of patients, with suspected complex neurogenetic disorders, living in resource limited regions around the world have no access to genetic testing despite the rapidly expanding availability and decreasing costs of genetic testing in first world nations. The barriers to increasing availability of genetic testing in resource limited nations are multifactorial but can be attributed, in large part, to a lack of awareness of the power of genetic testing to lead to a rapid, cost-effective, diagnosis that potentially will have profound clinical implications on treatment and patient outcomes. We report our experience with whole exome sequencing (WES) done for the first time in 5 patients of African descent with a suspected neurogenetic disorder living in a resource limited setting on the Eastern Caribbean island of Barbados. A diagnostic pathogenic mutation was found in 3 patients in the SCN1A, STXBP1 and SCN4A, who clinically were diagnosed with Dravet syndrome, Lennox-Gastaut syndrome, paramytonia and seizures respectively. A variant of undetermined significance was found in a patient with global developmental delays, hypotonia, with abnormal eye movements. In one patient WES was non-diagnostic. This result highlights the high yield of WES in carefully selected patients with a neurologic disease and the need for increase access to genetic testing in resource limited settings globally.

Sir Matthew Tierney and the foundation of the 1804 Sussex Vaccine Institution.

Irish physician Sir Matthew John Tierney (1776-1845) was a vaccine pioneer who learnt the procedure directly from Edward Jenner in Gloucestershire. In 1802 Tierney completed an MD at Glasgow on vaccination and moved to Brighton, where he was appointed physician to the Prince of Wales (the future King George IV). This paper considers Tierney's role in the foundation of the 1804 Sussex Vaccine Institution. Tierney was the first president of the Institution's Medical Council. His leadership lay in his knowledge of vaccination (including transporting cowpox material) and his close relationship with the Prince of Wales. The Institution's official name was the Royal Sussex Jennerian Society for the Extermination of the Small-pox and offered vaccination at 16 stations across the county and one in Kent. Vaccination was undertaken by local surgeons at their houses at set hours. In its first year, the Institution vaccinated 946 individuals, of whom 509 for free. Despite this, concerns were raised over uptake by poorer members of society. The Institution's Brighton station was probably absorbed into the new 1809 dispensary. Tierney's promotion of vaccination and instructions for new practitioners represent the embryonic beginnings of evidence-based medicine and modern medical education in Brighton.