Woo hoo! The very brilliant Lisa Ewans won a prestigious European Journal of Human Genetics prize for her highly cited paper European Society of Human Genetics (ESHG) conference in Berlin. Honoured to have this incredible clinician scientist as a colleague and friend Henry Gerson UNSW Medicine & Health Sydney Children's Hospitals Network A/Prof Jodie Ingles Rare Voices Australia

#undiagnosedhackathon2024 Go Team Space - wonderful teamwork resulted in 3 new diagnoses just from our group! Tika Tkemaladze (Elizabeth) Emma Palmer (she / her) Prince Roy Makay and others

Share this with your #raredisease community! There are approximately 7,000 different rare diseases. Although individually rare, they are collectively common, with an estimated 2 million Australians living with a rare disease. 💫

Australian healthcare students and professionals… are you curious to know how you can be a champion for the 1 in 12 Australians living with a #raredisease …. and be in the running for an iPad? Register for RD101 Australia learn.m4rd.org/mod/page/view.… & follow details in flyer ⬇️

The wait is over! Our very own pop song for #RareChromoDay, "Touch the Sky," is out now! Share it with friends, family, and loved ones. Available on all major platforms! Check out our lyrics video on YouTube: youtu.be/Nw2G8vKqon8 #TouchTheSky #NewMusic #ListenNow

Proud academic mamma moment… look at this impactful research from superstar @ManjekahDunn Iva Strnadova UNSW Medicine & Health The Royal Australasian College of Physicians @3DN_UNSW UNSW ObGyn & Paeds

Launched: 'Taking Action Together Toolkit: Improving Health & Wellbeing Outcomes for Australians Living with a Rare Disease': bit.ly/4bjdfDz #RareDisease #RArESTProject

New publication alert 🔽 Global action to improve equity of action to a diagnosis Clinicians + researchers reach out if you are keen to join our international diagnostic brains trust doi.org/10.1038/s41525… Wilhelm Foundation Udninternational Australian Genomics Rare Voices Australia SWAN Australia Genetic Alliance AU

CLCN4-NDC is rare—only about 200 diagnosed worldwide, but many remain undetected due to low awareness and limited genetic testing. Let's boost awareness and research to improve diagnosis and treatments. Together, we can make a difference. 💙 #cureclcn4 #clcn4awarenessweek

Join Gina Tan as she shares the journey & inspiration behind the founding of Cure CLCN4 and how we're striving to make a difference ✨ #cureclcn4 #clcn4awarenessweek #ourstory

Teegan, born in 1986, lived years undiagnosed but pursued her dreams relentlessly. From a local café job to a special needs college, she blazed her trail. Now, she lives independently with her dog, Fudge, inspiring many. Read more: cureclcn4.org/meet-teegan/💙#clcn4awarenessweek

RVA is excited to be attending the Human Genetics Society of Australasia conference! We are pleased to have a booth in the not-for-profit members’ section. If you’re at the conference, feel free to stop by and say hello. #RareDisease

At #HGSA2024 and so proud of the brilliant Dr Lavvina Thiyagarajan presenting her thoughtful work highlighting the need to listen to the opinions, experiences and recommendations of #autisticpeople regarding #genetictesting GeneEQUAL Iva Strnadova @JLSbioethics

GeneEQUAL attended #HGSA2024 & shared their recent studies about health & genetic education for students with intellectual disabilities from teachers’ & students’ experiences & perspectives Human Genetics Society of Australasia (Elizabeth) Emma Palmer (she / her) Iva Strnadova Bronwyn Terrill @JackamanKaren

🚩 Multi-system involvement 🚩 Multi-system involvement is one of the seven 'Red Flags' of Rare Disease according to our study published in the Orphanet Journal of Rare Diseases. See M4RD's helpful hints!

🧑‍💻Visit the RARE Portal for current, reliable and straightforward rare disease information and resources customised for the Australian context. The RARE Portal is funded by the Australian Government and is a key deliverable of the National Strategic Action Plan for Rare Diseases.

What an honour to be featured twice in the September issue of INSPIRE Research Australia GeneEQUAL share how they are improving genetic healthcare outcomes with people with intellectual disability. Click here to read more: researchaustralia.org/inspire-magazi… Self Advocacy Sydney Inc (SAS)

GeneEQUAL announce yet another Inclusive Practice Award. Congratulations, Dr David Manser! 👏 Dr Manser listens to patients, is respectful and makes appointments accessible Self Advocacy Sydney Inc (SAS) (Elizabeth) Emma Palmer (she / her) Iva Strnadova UNSW Disability Innovation Institute NSW Health Australian Genomics Melbourne Genomics Health Alliance

See our paper in GIM here. If you publish on variants, PLEASE use variantvalidator.org, or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!