Rare Brain Disorders

In past years our grant research applicants submitted, as part of their application, an essay about a disease or disorder of the brain.  These essays are in a variety of disorders and diseases, some of which we do not include as an entry in our main DISORDER list.  These essays contribute to the general pool of information we provide.  The essays are in PDF format.  Browse through the list or use the quick links below to jump to a section.

Click the headings below to jump to a specific section.

Researcher essays:

Understanding rare brain disorders

Approximately 10.6 million Australians are affected by a brain disease, disorder, or injury (1). This is about 41% of the population – so at first glance, neurological conditions are not rare. However, there are over 600 diseases that can affect the nervous system and they vary widely in prevalence.

In order to understand rare brain disorders, let’s take a look at the most common conditions:

  1. Migraine and tension-type headache (5.3 million people*)
  2. Stroke (387,000 people)
  3. Alzheimer’s disease and other dementias (250,000 people)
  4. Epilepsy (151,000 people)
  5. Parkinson’s disease (110,000 people)
  6. Cerebral palsy (34,000 people)
  7. Multiple sclerosis (25,600 people)

*This figure has been adjusted – it only includes people who consider migraine or tension headache to be their primary neurological disease (1).

Graphic showing prevalence of brain disorders

These seven common conditions account for 59% of Australians living with a neurological disease. And as you can see, the prevalence drops significantly between each disorder. Migraine affects about 20% of the population, while multiple sclerosis affects 0.1%.

According to the Department of Health, a disease is considered to be ‘rare’ if it affects less than 0.05% of the population (5 in 10,000 people). However, the question of disease rarity has been debated in the scientific community. One study broke the categorisation down into three categories (2):

  • Borderline-common (6-9 in 10,000 people or 0.06-09%)
  • Rare (<5 in 10,000 people or 0.05%)
  • Ultra-rare (<1 in a million people or 0.0001%)

Based on these categories, any disease less common than multiple sclerosis can be considered somewhat rare. This means that there are hundreds of rare brain disorders affecting over 4 million Australians.

Research challenges

Rare disease research involves a number of unique challenges.

Type of researchChallenges
Basic research (improving our understanding of a disease)Less funding and fewer researchers
80% of rare diseases are genetic and are quite complex (3)
Clinical research (studies that investigate the effect of drugs, treatments, or management strategies)Difficult to recruit enough trial participants
Lack of basic research - treatments can’t be developed until we understand the disease
Randomised controlled trials (trial design with the highest clinical evidence rating) can be unappealing - patients don’t want to receive placebo, and researchers feel ethically bound to provide the best available treatment (4).
Study design must ensure patient privacy (important for all research, but harder for rare diseases)
Epidemiological research (the study of how often diseases occur in different groups of people and why)Smaller patient population = harder to identify patients
Misdiagnosis & delayed diagnosis is common
Epidemiological data is more reliable with large sample sizes, which aren’t available for rare disorders

Thankfully, there have been technological, financial, and social changes in the past few decades that have made research into rare brain disorders slightly easier (4). 

Gene sequencing technology has significantly advanced diagnoses, which has helped identify potential treatment pathways. Orphan drug programs have allowed pharmaceutical companies to invest in developing treatments for rare diseases, without having to charge patients thousands of dollars for the drug. 

The internet has also helped both patients and researchers. Patients are now able to connect with each other online to find support. Advocacy organisations can also publicise research opportunities and clinical trials to help researchers recruit study participants. 

There is still a long way to go until we can completely overcome these challenges, but it’s a step in the right direction.

What are we doing about rare brain disorders?

At the end of the day, the prevalence of a disorder is not what’s important. As one researcher writes, “for patients with a rare disorder, the disease is no longer rare – it is a constant part of their lives and the life of their families” (4). 

Whether a disease affects 100 people or a million people, we believe patients should have access to accurate diagnoses and effective treatments. This is why the Brain Foundation accepts research grant applications for any neurological disease, disorder, or injury. We want to provide much-needed opportunities for any projects that might not have access to widespread funding sources.

We also hope we can provide support to people who are living with rare brain disorders. Here are some resources that you might find helpful (along with the researcher essays below):

Rare Disorders (not in our main A-Z of Disorders section):

Acquired Neuromyotonia – Jankelowitz Stacey

Age-related macular degeneration – Hart

Aggressive pituitary tumours- a challenge to predict and treat – McCormack

Amyotrophic lateral sclerosis – Blizzard Catherine

Angelman Syndrome – Moldrich Randal

Arteriovenous Malformation – Zhao Zhenjun

Autism Spectrum Disorders – Dr Ben Kamien

Disorders of Consciousness – Keen Shannan

Cauda Equina Syndrome – Boswell-Ruys Claire

Congenital Central Hypoventilation Syndrome – McMullan

Cerebral Malaria – Pai Saparna

Cerebral Oedema – Turner

Chemotherapy-induced cognitive impairments- Johnston Ian

Chronic Inflammatory Demyelinating Polyneuropathy -Mathey and Pollard

Chronic Neuropathic Pain – Austin

Chronic Traumatic Encephalopathy-Gardner

Complex Regional Pain Syndrome – Saad Nagi

Congenital Cytomegalovirus Infection – Sampaio Hugo

Cognition, Brain Volume and Diabetes – Dr Amy Brodtmann

Creutzfeldt-Jakob disease – Dr Rebecca Nisbet

Diabetic Neuropathy – West

Frontotemporal lobe degeneration – Dr Anna King

Gliobasltoma Stem Cells – Parat Marie-Odile

Glioblastoma multiforme – Stringer

Glioma – Graeber

Gaucher Disease – Dr Diane Moujalled

Heterotopic Ossification – Genet Francois

Hypoxic Ischaemic Encephalopathy – Iyer Kartik

Hereditary Spastic Paraplegia – Kumar Kishore

Influenza associated encephalitis – Khandaker

Injury to the nervous system – Pebay

Kufor-Rakeb syndrome.pdf

Macular Degeneration – Lee Aven

McArdle Disease – Nowak Kristen

Meningitis – Ogunniyi Abiodun

Muscular Dystrophy Type 2B – Dysferlinopathy – Dr Sandra Cooper

Myasthenia gravis – Morsch

Myotonic Dystrophy – Richards

Nemaline-myopathy – Clarke Nigel

Neurofibromatosis – Ng Wayne

Neuropathic Pain – Moalem-Taylor

Niemann-Pick Disease – Grubman

Niemann-Pick type C disease – Ximing Du

Myasthenia gravis – Dr Marco Morsch

Rett Syndrome – Exciting new treatment strategies for Rett Syndrome: What we are learning from mouse models – Dr Ashleigh Smith

Pick’s disease – Smid Scott

Pituitary Tumours – Nichols A

Pragmatic Language Disorder – O’Callaghan

Prion diseases – Lewis Victoria

Progressive Supranuclear Palsy – Bertram Kelly

Retinal Scanning looking towards the future  – Martins Ralph

Sleep Disorders in infants SIDS – Machaalani

Spatial neglect – Loetscher Tobias

Stimulation of stem cells for brain repair – Roulston Carli

Temporomandibular Pain – Connor Mark

The clinical aspects of RTT syndrome – Chrisodoulou John

Vestibular Neuritis – Rosengren C


Alzheimer’s Disease:

Alzheimer’s disease, it’s time for a cure – Dr Bryce Vissel

Sleep and Alzheimer’s Disease – Belinda Brown

The Role of Heat-Shock Proteins in Alzheimer’s Disease – A/Prof Snezana Agatonovic-Krustrin

Alzheimer’s Disease – A/Prof Meng Inn Chuah

Alzheimers – Clinical characteristics of late-onset Alzherimer’s disease (LOAD) – A/Prof David Darby

Alzheimer’s Disease – The early detection of Alzherimer’s disease – Mr Mitchell Goldsworthy

Alzheimer’s Disease – Dr S Mojtaba Golzan

Alzheimer’s – The on/off switch of a major disease gene in Alzheimer’s disease – Dr John Kwok

Alzheimer’s Disease – Dr Wei Ling Florence Lim

Alzheimer’s Disease – Prof Roger TruscottAlzheimer’s Disease – A Brief Overview – Dr Joseph Nicolazzo

Alzheimer’s Disease – Dr Adele Woodhouse

Alzheimer’s Disease – Blood biomarkers for early diagnosis of Alzheimer’s Disease – Dr Veer Bala Gupta

Clinical characteristics of late-onset Alzheimer’s disease (LOAD) – Dr Amy Brodtmann

Alzheimer’s Disease – Dr Helen Macpherson

Alzheimer Disease – Ciccotosto

Alzheimer’s Disease – Katsifis Andrew

Alzheimer’s Disease – Szoeke

Alzheimer’s Disease Dementia – Sohrabi

Alzheimer’s Disease – Vissel

Alzheimer’s Disease – Cooper Janine

Alzheimer’s Disease – Roberto Cappai



Aphasia – Finch

Aphasia in single-language and bilingual individuals – Amanda Miller

Bilingual Aphasia – Wagner Coulson

Aphasia – Dr Renate Thienel


Brain Tumour / Cancer (including Medulloblastoma):

Brain Tumour/Cancer – Medulloblastoma enters the era of personalised medicine – Dr Daniel Gough

Brain Cancer – The Basics – Rodney Luwor

Brain Tumour – Advances in understanding and treating brain cancers – Dr Theo Mantamadiotis

Brain Tumour – Maria Tsoli

Brain Cancer – Meedeniya

Brain Cancer Tumour – Hosein Abdel

Brain Tumour – Cancer – Nowak Anna

Brain Tumour – Luwor Rodney

Brain Tumour – Munoz Lenka

Brain Tumour – Siu

Medulloblastoma – Ziegler David

Medulloblastoma- Allan Kirsten


Cerebral Palsy:

The importance of monitoring hips in Cerebral Palsy – Gibson Noula

Cerebral Palsy – O’Callaghan

Cerebral Palsy – Wong

Cerebral Palsy – Dystonia in children with cerebral palsy – Dr Adrienne Harvey

Cerebral Palsy and Preterm Birth – Dr Carly Molloy



Frontotemporal dementia – Dr Catherine Blizzard

Dementia – An introduction to younger-onset dementia syndromes – Muireann Irish

Frontotemporal Dementia: A spectrum of conditions – Dr Jeffrey Liddell

Fronto-temporal Dementia – Darby


Duchenne Muscular Dystrophy:

Duchenne Muscular Dystrophy – Launikonis

Duchenne Muscular Dystrophy – White Jason

Duchenne muscular dystrophy – Michael Cheung



Dystonia – An update on the pathophysiology of isolated focal dystonia – Dr Lynley Bradnam

Dystonia – Bradnam Lynley



Epilepsy – Prof Peter Blamey

Epilepsy – Sudden Unexplained Death in Epilepsy – Dr Marcus Gray

Epilepsy – Therapeutic approaches to epileptogenisis – Min Chen

Epilepsy – Comorbidities – Bone Health in Epilepsy – Dr Sandra Petty

Epilepsy – Gilby

Epilepsy – Irina Kharatishvili

Epilepsy – Liu Shijie

Epilepsy – Moorhouse Andrew

Epilepsy – Ng Caroline

Epilepsy – Yan Bernard

Epilepsy_Vivash Lucy

Surgery for Epilepsy- McIntosh Anne


Huntington’s Disease:

Huntington’s Disease  – AJ Hannan

Huntington’s Disease – Thompson Jennifer

Huntington’s Disease – An overview – Prof Nellie Georgiou-Karistianis


Migraine and Headache:

Migraine – Dr Andrew Bivard

Migraine (without aura) – Dr Christine Barry

Migraine – one day of many – A/Prof Allison McKendrick

Migraine – Prof Lyn Griffiths

Stress and Headache – Dr Stuart Cathcart

Cluster Headache – Prof Paul Rolan

Chronic -tension type headache: Brain changes in Headache – A/Prof MIchael Ridding

Vestibular Migraine – What is vestibular migraine? – Dr Sally Rosengren

Chronic tension-type headache – The biology of chronic tension-type headache: what’s new? – Dr Siobhan Schabrun

Chronic Tension-Type Headaches – Dr Katia Ferrar

Primary Stabbing Headache – Dr Hooi Ling Teoh

Migraine – Griffiths Lyn

Migraine – Zagami ABF

Medication Overuse Headache – Paul Rolan


Motor Neurone Disease:

Motor Neuron Disease – Emma Devenney


Multiple Sclerosis:

Multiple Sclerosis – Yan Jun

Multiple sclerosis _Kilpatrick Trevor

Neuroprotection upon Multiple Sclerosis – Xiao Junhua


Parkinson’s Disease:

Prevalence, symptoms and prognosis in Parkinsons Disease – Dr Sherif Boulos

Parkinson’s Disease – Dr Larisa Bobrovskaya & Ms Michaele Johnson

Parkinson’s – LRRK2 – a target for development of novel therpeutic strategies for the treatment of Parkinson’s disease – A/Prof Heung-Chin Cheng

Parkinson’s Disease – Dr Carmelo Vicario

Parkinson’s Disease – Dr Juliet Taylor

Parkinson’s – Visual Hallucinations in Parkinson’s disease – Dr James Shine

Parkinson’s – Sleep problems in Parkinson’s disease – Prof Malcolm Horne

Parkinson’s – Korner Heinrich

Parkinson’s Disease – Stratton Peter

Parkinson’s Disease – Liu Karen

Parkinson’s Disease – Fu YuHong

Parkinson’s Disease- Huang Y

Parkinson’s treatment – Vissel Bryce

Treatment of Speech Disorders in Parkinson’s Disease – Murdoch Bruce

Parkinson’s Disease – Thevathasan Wesley

The use of cues for people with Parkinson’s – Liu Karen

Emotional words and depression in Parkinsons_disease_Chenery Helen.pdf



Schizophrenia – Anggono

Schizophrenia – Moustafa Ahmed



Stroke is a medical emergency – Ms Karen Borschmann

Harnessing neuroplasticity after stroke – A/Prof Kristyn Bates

Stroke Recovery – Ms Heidi Janssen

Stroke – Acute Stroke – A Clinical Emergency – Dr Bill O’Brien

Stroke – Living with Locked-in-Sydndrome – Sam Darvishi

Stroke – Early intervention and long-term recovery – Dr Michelle McDonnell

Stroke – What is it and what is its impact on patients and the community? – A/Prof Bruno Meloni

Stroke – Working together to promote brain recovery – Dr Carli Roulston

Stroke – Prof Paulette van Vliet

Stroke – Dr Nawaf Yassi

Stroke & Dementia – Brodtmann

Stroke – Darvishi Sam

Stroke – McNulty

Stroke – Said Catherine

Stroke – Spencer Sara

Stroke – Vallence Ann-Maree

Stroke – Yool Andrea

Stroke and falls – Batchelor Frances

Experiencing a mini stroke – Bivard

Changes in movement and sensation after a stroke – Bowden Jocelyn

Movement and Sensation after Stroke – Bowden

Muscle synergies after stroke – Trinh Terry


Traumatic Brain Injury and Concussion:

Paediatric Traumatic Brain Injury – A/Prof Cathy Catroppa

Traumatic Brain Injury in Children – Dr Ali Crichton

Traumatic Brain Injury – Dr Pearl Chung

Traumatic Brian Injury and the use of stimulants – Dr Priya Duggal

Paediatric Traumatic Brain Injury – Mild traumatic brain injury in adolescents – Dr Celia Godfrey

Traumatic Brain Injury – Understanding and managing traumatic brain injury – Prof Jennie Ponsford

TBI – Childhood traumatic brain injury and long-term psychosocial outcomes – Ms Stefanie Rosema

Traumatic Brain Injury – Current Advances in the Science of TBI’s – Dr Maithili Sashindranath

Traumatic Brain Injury – Brain Injury and increased risk of Alzherimer’s disease – Dr Hamid R Sohrabi

Traumatic Brain Injury – Dr Andrew Weatherall

Traumatic Brain Injury – Dr Gavin Williams

Concussion – An overview of concussion – Mr Stefan Dimou

Traumatic Brain Injury – Christie

Traumatic Brain Injury – Lannin Natasha

Traumatic Brain Injury in Children – Crichton Ali

Traumatic Brain Injury – Sashindranath Maithili

Traumatic Brain Injury_-_Shultz_Sandy

Pediatric Traumatic Brain Injury – Catroppa Cathy


  1. Mindgardens Neuroscience Network, 2019, Review of the burden of disease for neurological, mental health and substance use disorders Australia. Retrieved from: www.mindgardens.org.au/news/whitepaper/ 
  2. S Frederiksen et al, 2022, Rare disorders have many faces: in silico characterization of rare disorder spectrum. DOI: 10.1186/s13023-022-02217-9
  3. Department of Health and Aged Care, 2022, What we’re doing about rare diseases. Retrieved from: https://www.health.gov.au/health-topics/chronic-conditions/what-were-doing-about-chronic-conditions/what-were-doing-about-rare-diseases
  4. R Griggs et al, 2009, Clinical research for rare disease: opportunities, challenges, and solutions. DOI: 10.1016/j.ymgme.2008.10.003
Brain FoundationThe Brain Foundation is the largest, independent funder of brain and spinal injury research in Australia. We believe research is the pathway to recovery.