Rare Disease Hub:

PTC Therapeutics have collaborated with the Royal College of General Practitioners to develop a Rare Disease Hub, within the hub are several modules of learning. The aim is to help improve the recognition and diagnosis of rare diseases and to grow and develop the content within the hub.  This Rare Disease Hub can be accessed using the following links on The RCGP Online Learning Environment. You will need to have an RCGP account to access the hub content. You can sign up for a free account by selecting the ‘basic registration’ option here: https://www.rcgp.org.uk/my-rcgp/basic-registration.aspx

The hub contains the following resources:

Introduction to Rare Diseases & Neuromuscular Disorders (15 minute eLearning course)

Course description:

This course aims to educate primary care clinicians about neuromuscular disorders, putting these in the context of other rare diseases. It gives disease-specific information for some of the more common neuromuscular disorders and describes common features and key differences of a range of neuromuscular conditions. It discusses the importance of early diagnosis and new emerging therapies. The course also highlights when one should suspect a neuromuscular disorder and what to do. The associated module, ‘Motor development in children’, provides you with a structured approach to assessing children’s motor development and highlights some key red flags.

Motor development in children: assessment and red flags (30 minute eLearning course)

Course description:

This 30 minute course aims to help general practitioners assess children’s motor development. It identifies opportunities to perform a brief developmental assessment, describes an approach to assessing children of different ages and highlights the normal and abnormal, including important red flags. It also advises what you can do if you have concerns.

Dystonia (5 minute screencast)

Screencast description:

This screencast is an introduction to the movement disorder dystonia. It describes the types of dystonia some of the causes, how to spot it and what to do if you suspect your patients may have it.

A shorter link to the hub can be found here: https://elearning.rcgp.org.uk/rarediseases  

Medics4RareDiseases is a registered charity driving an attitude change towards rare diseases amongst medical students and doctors in training.

The organisation began as Barts and The London Society for Rare Diseases in 2011 and became a national project in 2013 as Students4RareDiseases with the help of The LSD Collaborative who were awarded the Sanofi Genzyme PAL Award.

Medics4RareDiseases have continued to deliver a number of exciting projects working closely with patients, industry specialists, medical schools and rare disease advocates.