NEWS & EVENTS
February 27, 2018
Cure RTD presents at Congressional briefing in Washington, D.C. on gene testing
On February 27, 2018, Cure RTD’s president Melissa Griffith traveled to Washington, D.C. to sit on a panel as part of a Congressional briefing on the use of genetic sequencing in the diagnosis of rare diseases. Melissa presented as a “Parent Advocate” on behalf all individual and families affect by RTD.
Melissa was able to present to congressional staff members background on RTD, details of her daughter Ellis’s journey with RTD, the challenges that physicians face in diagnosing RTD, and the importance of an early diagnosis. The Congressional briefing was put on by Congressman Scott Peters (D-CA) and organized by the March of Dimes.
September 8, 2017
Cure RTD presents data from the Cure RTD Registry at the 4th Annual International Conference on Neuromuscular Disease
As part of our efforts to raise awareness of RTD, on September 8th, 2017 Cure RTD’s Science Director, Keith Massey, was part of a research group that presented research data collected by the Cure RTD Foundation to a group of physicians and researchers at the 4th Annual International Conference on Neuromuscular Disease in Ottawa, Canada.
This presentation was the first time differences in the onset of RTD Type 2 and Type 3 across a large group of patients has been presented to the medical community. Cure RTD’s hope is this information will allow doctors to identify individuals with RTD sooner and before irreversible damage might occurs. The poster presented at this conference can be download or viewed at the following link: Exploring the epidemiology of Riboflavin Transport Deficiency September 2017
June 17, 2017
Cure RTD Awards Research Grant to Claudia Compagnucci, PhD, Bambino Gesù Children’s Research Hospital
Cure RTD has awarded a research grant to Claudia Compagnucci, PhD, at the Bambino Gesù Children’s Research Hospital, Italy for her project “Modelling Riboflavin Transporter Deficiency with human induced pluripotent stem cells “. This important research will develop not only investigate the mechanisms involved in the pathogenesis of RTD, but, by making use of state-of-the-art iPSC technology, develop a tool suitable for pharmacological treatments that would allow the rescue of the defective neuronal phenotype. These outcomes will offer great promises for the potential development of therapeutic strategies for RTD.
May 15, 2017
Raising Awareness – Cure RTD’s Keith Massey Presents on Auditory Neuropathy and Riboflavin Transporter Deficiency on AudiologyOnline
Cure RTD’s founder and science director, Keith Massey, presented on auditory neuropathy and riboflavin transporter deficiency to a large audience of audiologists and clinicians as part of Audiology Online professional webinar series. Topics covered included the presentation and management of hearing loss with RTD and use of cochlear implants.