Visual Snow Syndrome research challenges: Rare Disease Day feature

L-R: A/Prof Jo Fielding says of Visual Snow that "it is very difficult,
if not impossible to diagnose"; and patient advocate Patricia says VSS
is "quite challenging". See video (1:57 mins)

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers 

The Department of Neuroscience’s Associate Professor Joanne Fielding is involved in research on Visual Snow Syndrome (VSS), a neurological condition primarily affecting the processing of sensory information. Even though it is thought to affect up to 2% of people, it is not widely recognised or diagnosed correctly by the medical community. 

Brain disease patients to benefit from CCS-led study: Rare Disease Day feature

L-R: Patient advocate Amanda and CCS researcher Dr Mastura

Monif talk about the experience of living with the illness and the

challenges of research into the disease. See video (2:19 mins).

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers 

The Department of Neuroscience’s Dr Mastura Monif is involved in research about Autoimmune Encephalitis, which affects 5-15 in 100,000 people. Autoimmune Encephalitis is a type of brain inflammation caused when the immune system mistakenly attacks healthy brain cells.  

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.

Zeroing in on improved brain cancer diagnosis and treatment: Rare Disease Day feature

See Prof Meng Law and Dr Mastura Monif explain their research

into improved diagnostic techniques and potential treatments

for brain cancer: Video (3:39 mins)

Part of our special series for Rare Disease Day featuring CCS researchers 

Dr Mastura Monif and Professor Meng Law explain how their complementary approaches are refining and improving the diagnosis and treatment of brain tumours. See the video and read their stories below.

CaRE in action: patients key to blood cancer lobbying success: Rare Disease Day feature

L-R: Patient advocate Ken and researcher Professor Andrew
Perkins talk about the experience of living with the illness and
the challenges of research into the disease. Video (2:19 mins)

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers  

Clinician-scientist Professor Andrew Perkins, who heads the Blood Cancer Genomics team at the ACBD, has for 12 years researched myeloproliferative neoplasms (MPNs). MPNs are a diverse group of chronic blood cancers. Myelofibrosis (MF) is at the severe end of the spectrum. 

Brain imaging reveals insights into movement disorder: Rare Disease Day feature

L-R: Patient advocate Marcus and CCS researcher Dr Ian Harding
talk about the experience of living with the illness and the
challenges of research into the disease. Video (2:09 mins)

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers 

Friedreich ataxia (FA) is a debilitating genetic disorder that causes progressive damage to the nervous system and heart. Defined by problems with gait, balance and motor coordination, speech and swallowing, its symptoms generally start in childhood or adolescence and progressively worsen, causing increasing difficulty with basic daily activities and self-care, and ultimately leading to premature death 20 to 30 years after first symptoms. It affects 2-4 people per 100 000.

Dr Ian Harding and his team in the CCS’s Department of Neuroscience have recently made some exciting advances in knowledge using a variety of magnetic resonance imaging (MRI) and positron emission tomography (PET) brain imaging techniques.

Scientist seeks clues on ‘missing’ parts of immune system: Rare Disease Day feature

L-R: Patient advocate Nadine and CCS researcher Dr Emily
Edwards talk about the experience of living with the illness and the
challenges of research into the disease. See video (2:05 mins)

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers

Dr Emily Edwards, a Research Fellow with the Monash Department of Immunology and Pathology at The Alfred precinct, is working to uncover the DNA errors or genetic variants that cause Primary Immunodeficiency (PID), a rare inherited condition where part of the immune system is missing or not functioning as it should.