Awareness day brings rare diseases out of the shadows

CCS researchers have teamed up with patient advocates to give

insight into living with the illness and the research challenges

to understand the disease for improved diagnosis and treatment.

See video playlist or see below for links to specific videos.

Today, 28 February, the Central Clinical School’s Community and Research Engagement (CCS CaRE) program is participating in a global Rare Disease Day, to raise awareness of rare diseases and showcase some of the research that goes into rare diseases now being undertaken across the school.

Rare Voices, the peak body for rare diseases in Australia, states that a disease is considered rare if it affects less than five in 10,000 people. More than 7,000 rare diseases exist that are life-threatening or chronically debilitating. Collectively, around 8% of Australians (two million people) now live with a rare disease.

Rare Disease Day aims to generate awareness of these often under-resourced conditions, improve diagnosis rates and access to treatment, and strengthen the voice of those impacted by rare diseases. 

The CCS CaRE program was initially developed within the Australian Centre for Blood Diseases (ACBD) and has grown across the CCS, bringing together scientists and clinicians researching various health conditions with patients and their families affected by the conditions. Consumers/advocates provide different levels of engagement depending on their partnerships including input into research projects, grant applications, plain language summaries of research findings, links to organisations representing the conditions, and being part of educational activities in relation to their illness.  

"The research undertaken at the CCS, especially on rare diseases, has been improved in quality by the consumers/advocates sharing their experience and knowledge. Our young program, supported by an enthusiastic team, will keep assisting the meaningful partnership between consumer/advocates and researcher-clinicians for better diagnoses and improved treatments in the future," said Dr Karen Alt, Chair of the CCS CaRE program.

See more:

Featured stories and short videos (each approximately 2 minutes):

• Visual Snow Syndrome: Prof Jo Fielding and patient advocate Patricia talk about the research and the experience (video)
• Autoimmune Encephalitis: Brain disease patients to benefit from study led by Dr Mastura Monif (story and video)
• Brain tumours: Prof Meng Law talks about AI used to check tumour progression and Dr Mastura Monif about protein reduces tumour growth in devastating brain cancer (story and video)
• Primary Immunodeficiency: Dr Emily Edwards seeks clues on ‘missing’ parts of immune system (story and video)
• Friedreich ataxia: Dr Ian Harding on how brain imaging reveals insights into movement disorder (story and video)
• Myeloproliferative Neoplasms: Prof Andrew Perkins shares how patients key to blood cancer lobbying success (story and video)
• Overview and thumbnails of each of our advocates and researchers on the big challenges of living and researching the disease (video 11:54 mins)
• CCS Rare Diseases Youtube playlist: youtube.com/playlist?list=PL77QJnB61-H5gRguLcBsDEx1dSoVF2Gsp

Rare diseases:

• Rare Disease Day: www.rarediseasedayaustralia.com.au
• Rare Voices: rarevoices.org.au/

CCS CaRE group

• www.monash.edu/medicine/ccs/community-engagement