Oesophageal cancer a rare but deadly disease

Suzanne Neate (The Aftershock CEO) and Prof Wendy Brown

As rare diseases have been in the spotlight this week with Rare Disease Day on 28 Feb, we are revisiting a feature last year on the support offered by The Aftershock for work by the CCS’s Associate Professor James Lee into thyroid cancer, then Professor Meng Law’s group investigating the deadly brain cancer glioblastoma, and Professor Wendy Brown's work on oesophageal cancer. 

See the story

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.

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.

Central Clinical School participates in Rare Disease Day 2022

See video featuring patient advocates and CCS researchers

Hear from patient advocates and medical researchers as part of the Central Clinical School Consumer and Researcher Engagement (CCS CaRE) program for 28 February Rare Disease Day 2022. The diseases we talk about are Myeloproliferative Neoplasms, Autoimmune Encephalitis,  Friedreich's Ataxia, Visual Snow, Primary Immunodeficiency and brain cancer, including glioblastoma. We will be publishing our complete playlist on 28 February and will update this description with a link to the playlist.

See more:

• www.monash.edu/medicine/ccs/community-engagement
• www.rarediseaseday.org/countries/australia/

Rare disease funds to boost pancreatic and blood cancer studies: Rare Disease Day feature

Adj A/Prof Charles Pilgrim and Prof Andrew Spencer describe

their newly funded MRFF research and how it will help patients.

Early this month Central Clinical School researchers were awarded funding under the MRFF’s 2021 Rare Cancers, Rare Diseases and Unmet Need (RCRDUN) program. 

As part of Rare Disease Day today, we asked two CCS researchers - Charles Pilgrim from the Department of Surgery, and Andrew Spencer from the Australian Centre for Blood Diseases - working with rare diseases about the research being funded.