Posted on: November 29th, 2017 | 0 comments
The Genetics DMD Registry Officer role – in detail
Lead the development of dynamic Charity Action Duchenne’s patient registry to ensure optimised scope of data, efficient data collection, data analysis and wide data utility and compatibility with co-registries in the UK. Plan for the foreseeable future needs of translational research in Duchenne Muscular Dystrophy.
Summary of key tasks
Overview of the Charity
Founded in 2001, Action Duchenne was the first UK charity dedicated to improving the lives of those living with Duchenne Muscular Dystrophy. Our vision is that people living with Duchenne live the longer, fuller lives they deserve.
The UK DMD Registry was developed by Action Duchenne in 2007 and acts as a database for all those living with Duchenne or Becker Muscular Dystrophy. Patient registration is an online process that is voluntary and confidential. The Registry collects information including genetic diagnosis, some clinical function information and interventions.
Genetics DMD Registry Officer person specification
We are looking for an analytical individual with a sound knowledge of genetics to support the DMD Registry Curator and to lead on the Registry’s future development and planning. To ensure the collection and analysis of data is accurate, efficient and to implement improvements to future-proof the Registry. It is an exciting time for Duchenne translational research as there are around 40 clinical trials taking place now with new trials planned across the UK. It is a great opportunity for the successful candidate to be at the centre and forefront of these developments and to ensure the DMD Registry continues to be a bespoke database used by patients, clinicians, geneticists and researchers alike.
Click for detailed person spec http://bit.ly/2AJDN3W
How to apply
About the DMD Registry
The DMD Registry acts as a database for all patients who have been diagnosed with Duchenne or Becker Muscular Dystrophy and female carriers. Participants are required to give consent before registering and also to complete a Medical Release Form (consent form) to enable Action Duchenne to contact clinicians and geneticists for medical and genetic information. Participants are also required to read the Terms and Conditions carefully when registering and to ask any questions before making a decision whether or not to participate.
Registration and access is only authorised to people who are registered with a clinician in their country of residence because they have been diagnosed as having either Duchenne or Becker Muscular Dystrophy, are a carrier of a variant in the Dystrophin gene or are the parent or guardian of a child with a variant in the Dystrophin gene.
Purpose of the Registry
Importance of the DMD Registry
Patient registries are a very important tool in translational research. When planning a clinical trial, it is important that eligible patients can be found and contacted quickly – particularly in DMD, where many therapies and trials are targeted at specific mutations. With relatively few patients both eligible and willing to participate in any given trial, international cooperation is critically important.
The UK DMD Registry is part of the TREAT-NMD Global DMD Registry. National DMD registries from 34 countries contribute a subset of their data into a single international registry. This holds a standardised set of core clinical information, including full genetic diagnosis, for over 7,000 individuals. This data is anonymous: personally identifiable information, such as names and addresses, are never uploaded to the Global Registry.
By collecting information, including genetic diagnosis, about more patients than any one national registry could on its own, the Global DMD registry helps researchers plan effective clinical trials and other studies. The UK DMD Registry is an important part of this effort. The role of Genetics DMD Registry Officer is key to curating the current Registry and implementing future data strategies to sustain the utility of the Registry as a translational tool to enable clinical developments in Duchenne.
How to apply