Harry Perkins Institute of Medical Research

28/02/2026

How rare are "Rare Diseases"? Did you know that over 2 million Australians have a rare disease?

Today is Rare Disease Day, and it is a global awareness campaign dedicated to discussing rare diseases.

Rare diseases are often misunderstood, misdiagnosed, and poorly supported, which makes it challenging for individuals living with these conditions to receive the care and attention they need. That's why support for medical research that leads to better outcomes and diagnoses are so important.

Thank you for supporting the vital research at the Perkins that helps to find answers for families affected by rare diseases. You’re helping researchers find answers which can lead to treatments, and help couples planning their families.

If you would like to make a donation towards life-changing medical research, head to the 🔗 in the comments.

We hope you've enjoyed the interviews we've posted throughout the week highlighting the rare disease research work being done at the Perkins, all thanks to supporters such as yourself.

27/02/2026

One more day until Rare Disease Day, and for our final interview in the leadup we spoke to Emeritus Professor Nigel Laing AO about his work in rare genetic diseases.

Watch his interview below where he talks about Mackenzie’s Mission, a $20 million federal government project that he was one of the three co-leads on, which researched how to make reproductive carrier screening for rare diseases available free to all Australians who want to use it.

If you would like to make a donation towards ongoing rare disease research, head to the 🔗 in the comments.

27/02/2026

Tomorrow is - hear from our second last interviewee Dr Rhonda Taylor about her work in rare genetic disease.

Dr Rhonda Taylor is a Research Associate in the Rare Disease Genetics and Functional Genomics Laboratory at the Perkins, within which she is the Leader of the Disease Models and Therapies Team.

Thanks to support from kind people like yourself, Rhonda is currently researching a subset of rare genetic neuromuscular disorders called congenital myopathies.

Specifically, her research has two main aims; 1) To develop new treatments for early onset muscle disorders, and 2) create patient-centric disease models that can be used to test the effectiveness of these treatments.

Watch her short interview below.

As Rhonda eloquently summarises in her interview, her work (and the wider research being conducted at the Perkins) is only made possible thanks to generous and kind people such as yourself. You’re providing vital equipment for the team to use to conduct their studies and you’re keeping scientists in the labs, allowing them to follow their passion and make medical breakthroughs that help people live longer, healthier, better lives.”

If you would like to make a donation, please head to the 🔗 in the comments.

Send a message to learn more

26/02/2026

Your latest Safe Harbour Fellow! (Part 2)

Meet your newest Safe Harbour Fellow, Perkins researcher Dr Rui Hou.

Rui received the Perkins Safe Harbour Fellowship, which thanks to people like you means his ground-breaking research is funded for three years!

Dr Rui Hou, a bioinformatician, is developing tools to study cell-to-cell communication networks using single-cell sequencing and spatial transcriptomics data, strengthening discovery across other Perkins research programs.

He is doing this through research on 'cytokines', which are molecules that control how immune cells communicate and fight disease.

The funding he will receive will further his research into cytokines, and hopefully guide the design of more precise cytokine-based treatments for cancer, autoimmune disease and infections.

You've directly supported this potentially life-saving medical research, helping improve medical outcomes and treatment options in the future.

25/02/2026

There’s only a few days left until Rare Disease Day, and Dr Mridul Johari has a powerful story to share that really gives hope to families affected by rare genetic diseases.

Dr Mridul Johari, a molecular geneticist and research fellow from the Perkins Rare Disease Genetics and Functional Genomics Program, sat down with us recently to talk about his research, which is supported by kind and generous people like you.

Watch his short interview below, where he talks about his research and how he directly helped someone halfway around the world get a diagnoses for their muscle disease after years and years of searching.

Mridul’s current research at the Perkins on rare neuromuscular diseases is only made possible thanks to donors and supporters just like you. Because of you, people just like the patient Mridul helped, are getting life-changing answers they have been waiting years for.

If you would like to donate to help researchers like Mridul continue to find answers for families, follow the 🔗 in the comments.

24/02/2026

Rare Disease Day is fast approaching, and Researcher Gavin Monahan’s recent trip to India may hold hope for families affected by Rare Genetic Diseases.

Gavin, a bioinformatician from the Perkins Rare Disease Genetics and Functional Genomics Program, attended the Undiagnosed Hackathon in India. This is a yearly gathering of researchers, AI scientists and clinicians from around the world, working together to find answers for families and people living with undiagnosed genetic diseases.

Watch Gavin’s short interview to find out how they went.

Gavin’s incredible contributions to these discussions was only made possible thanks to donors and supporters like you. Because of you and your support of research into the genetic causes of rare disease, these families, and many more like them, can get the answers they need.

If you would like to donate to help more families affected by rare disease, head to the 🔗 in the comments.

23/02/2026

Rare Disease Day is right around the corner – here’s some ground-breaking genetic disease research that you don’t want to miss. 👇

The Rare Disease Genetics and Functional Genomics Program at the Perkins works to explore the genetic cause of rare diseases that are often fatal, and more often than not, affect children. The Group are a team of dedicated medical scientists, genetic counsellors and clinicians who are passionate about finding answers for people living with rare diseases, to know the genetic cause of their disease and to explore possible life-changing treatments.

A few of the researchers in the Program have shared what they’re doing in this vital field. The first interviewee of five is Dr Joshua Clayton. Watch to hear about what he does here at the Perkins, his hope for rare disease research in the future, and more.

Making that genetic diagnosis is the turning point for families who are in the dark about why their children are suffering from disease. It provides them with answers; it provides them options around planning a family; and it informs precision medicine.

These breakthroughs in medical research and answers for families are only made possible thanks to incredibly generous donors and supporters like you. Because of you, this research can continue, helping families whose children are affected by debilitating rare genetic disease.

Please, if you would like to donate to help keep this research going, head to the 🔗 in the comments.

16/02/2026

Your latest safe harbour fellow! (Part 1)

👉 Meet your newest Safe Harbour Fellow, Perkins researcher Dr Rowan Sanderson. Rowan received the Cancer 200 Perkins Safe Harbour Fellowship, which thanks to people like you means his ground-breaking research is funded for three years!

A senior biomedical engineer in the BRITElab, Rowan is uncovering the mechanical origins of breast cancer using advanced light-based imaging techniques.

A key hallmark of breast cancer is the altered mechanical properties, with tumours being stiffer than the surrounding healthy tissue. This stiffness has long been utilised as a biomarker, from clinical palpation during surgery through to advanced biomechanical imaging techniques.

However, stiffness not only signals cancer but also drives its progression. While important, the relationship between cancer and stiffness is unclear given a lack of imaging tools capable of capturing these interactions. Now with the Fellowship to support his research, he hopes to develop and apply 'optical coherence elastography' to investigate cancer stiffness across a range of studies, uncovering new insight that may improve targeted therapies.

He received the Cancer 200 Perkins Safe Harbour Fellowship, which is funded through the incredible efforts of MACA Cancer 200 Ride participants and their generous supporters!

Thank you to the riders, their friends and family who helped them raise funds, and everybody else who supported them on the way for last year's MACA Cancer 200 ride - your efforts and generosity directly made this medical research possible. Because of you, this potentially life-changing medical research is being supported and may help improve medical outcomes for breast-cancer patients in the future. 💙

Part 2 that spotlights the second Fellowship, the General Perkins Safe Harbour Fellowship, will be posted soon.

13/02/2026

Valentine's Day is right around the corner and we get it's a busy time for most, so we've prepared some heartfelt cards just for you!

Tag someone you adore in the comments or send it to them to let them know how much you 'gene' to them. 😉💙

11/02/2026

Women-led discoveries and scientists have shaped the modern world - from life-saving Malaria treatment (Tu Youyou) to the technology that gave us WIFI and Bluetooth (Hedy Lamarr) and the revolutionizing invention of the one-handed medical syringe (Letitia Mumford Geer) - women and girls have and continue to push us toward a brighter, healthier future.

Today on International Day of Women and Girls in Science, we're highlighting some of the incredible women who are breaking barriers and discovering new and better ways to treat the major diseases impacting us all.

💙 Prof Gina Ravenscroft, who leads the Rare Disease Genetics and Functional Genomics Group and has made strides in genomic diagnostic technology.
💙 Prof Pilar Blancafort, who is the Program Head of Cancer Epigenetics. She, among other things, oversees the research of the honey bee venom discovery and its use for treating breast cancer.
💙 Prof Elin Gray, who is the Chair of the Melanoma Discovery team. She aims to identify new treatment options for melanoma patients, particularly on a highly aggressive form of cancer that affects the eye (uveal melanoma).
💙 Prof Shirley Jansen AM, who is the director of the heart and vascular research institute at the Perkins, leading major advances in first-in-human pharmacological and device-based clinical trials in vascular disease.
💙 A/Prof Juliana Hamzah, who's research focuses on developing strategies to specifically target diseases for diagnostic imaging and local therapeutic interventions... and so many more.

Help us celebrate the undeniable role women and girls play in advancing medical research by tagging them below or leaving a heartfelt comment. They're fighting the tough diseases so everyone can live longer, healthier, better lives.

09/02/2026

🚨 Funding secured for first-in-class cardiovascular disease drug candidate 🚨

Congratulations to the team at Atherid Therapeutics, who have secured $500,000 in federal funding through Australia's Economic Accelerator (AEA) Ignite scheme.

The grant will support the establishment of GMP production for ATH01, a first-in-class drug candidate designed to clear cholesterol and lipids from artery walls, with the aim of treating patients with atherosclerotic cardiovascular disease.

This work is being led by A/Prof Juliana Hamzah, alongside Prof Shirley Jansen AM, with contributions from Dr James Williams (Health Translation Group Limited, Atherid Therapeutics), Elise Needham PhD GAICD (MTPConnect) and Jan Bekker (BioCina).

Help us congratulate this success in the comments!