Want to know more about #Reproductivecarrierscreening ? Resources to support health professionals and their patients understand reproductive carrier screening can be found at the Centre for Genetics Education genetics.edu.au/SitePages/Repr… RACGP ACRRM NSW Health RANZCOG - O&G Australasian Society of Genetic Counsellors (ASGC)

It’s the GETA 🧬🧠 conference 2024 - which not solely a hub for groundbreaking scientific presentations (re genetic epilepsies) but also a vital support network for families!

Featuring Prof Ingrid Scheffer -
Chair of Paediatric Neurology at University of Melbourne & Senior Principal Research…

Assume That I Can … I’m pledging as a healthcare worker to leave any negative assumptions at the clinic door. I’m so grateful to be part of ⁦GeneEQUAL and constantly challenging what I was taught at medical school. #Respect #Equity youtube.com/watch?v=Tf8j6s…

Assume that I can... it is that easy youtube.com/watch?v=Tf8j6s…

Self Advocacy Sydney Inc (SAS) CID Down Syndrome Aus UNSW Disability Innovation Institute Jan Walmsley GeneEQUAL IDRS Inc. Family Planning Australia Liz Tilley UNSW Arts, Design & Architecture UNSW Medicine & Health UNSW Gonski Institute for Education Melanie Nind Laurel Mimmo PhD Deborah Bateson

GeneEQUAL presented at the Future Health Expo at UNSW This event showcased the UNSW research revolutionising #healthcare & medical science. Find out more here: innovationcommunity.unsw.edu.au/futures-expo-s… (Elizabeth) Emma Palmer (she / her) Iva Strnadova RACGP NSW Health UNSW Disability Innovation Institute UNSWMedicine

A nice surprise to start my Friday! Seeing the Rare Voices Australia Rare Helpline available to support individuals with rare disease navigate their journey makes me feel hopeful & proud to contribute learnings in this field. 📝 @
doi.org/10.1016/j.ejpn…

UNSW Medicine & Health (Elizabeth) Emma Palmer (she / her)

RVA Partner, Childhood Dementia Initiative is hiring for an Education Lead. The role will be responsible for all aspects of CDI's education and awareness projects. Applications close on Friday, 22 March at 10am AEDT.

To apply, visit lnkd.in/gnEWVbqJ

Consultation is open on the consumer-led co-design of an Enhanced Consumer Engagement Process for health technology assessment (HTA).

You can provide feedback on the proposed recommendation here: health.gov.au/co-design-hta

Very honoured to present our GeneEQUAL research program at the UNSW Future Health Expo, an event showcasing UNSW research revolutionising health care and medical science. And that is what we do in GeneEQUAL
(Elizabeth) Emma Palmer (she / her) UNSW Disability Innovation Institute Self Advocacy Sydney Inc (SAS) CID

UNSW invites you to Future Health Expo on 14th March! Learn more about the research at UNSW that aligns with the National Reconstruction Fund’s focus area of medical science. Register to secure your FREE place: innovationcommunity.unsw.edu.au/futures-expo-s… NSW Health RACGP Australasian Society of Genetic Counsellors (ASGC)

When we invest in environments where #WomenInSTEMM can fully participate, the return is more inclusive & innovative health research that benefits all of our communities.🚀
#IWD2024 #InvestInWomen #AccelerateProgress

Have you registered yet! Join the conversation about #raredisease and let’s brainstorm innovative solutions together .Free registration details below. UNSW Medicine & Health Rare Voices Australia Human Genetics Society of Australasia There's still time to register for RACP Congress RACGP A/Prof Natalie Taylor UNSW ObGyn & Paeds Centre for Genetics Education, HETI NSW Health NSW Medical Research NSW Agency for Clinical Innovation Ben Harris-Roxas

Call for collaboration on #MSMO1 deficiency. Please contact us if you have patients with homozygous/biallelic variants Sofia Douzgou Houge Kakha Bregvadze, MD Gunnar Douzgos Houge ERN-ITHACA
ern-ithaca.eu/for-clinicians…

Uncommon Syndromes and Rare Diseases abc.net.au/listen/program…

Huge thanks to ABC Sydney Philip Clark for inviting Jan from Genetic Alliance AU and me to talk all things #rarediseases across Australia UNSW Medicine & Health Rare Voices Australia RARE Revolution Magazine Sydney Children's Hospitals Network Human Genetics Society of Australasia

abc.net.au/listen/program…

Ok in a new adventure will be talking all things #raredisease on ABC Australia nightline tonight with Jan from Genetic Alliance AU
Wish us luck!
UNSW Medicine & Health Rare Voices Australia Sydney Children's Hospitals Network Human Genetics Society of Australasia Australian Genomics

This year's celebration of the #RareDiseaseDay includes the inauguration of the brand new Reference Center for Rare and Unduagnosed Diseases at the University hospitals of Kinshasa.
Funding from the Wilhelm Foundation and the National Human Genome Research Institute

'Australia's National Recommendations for Rare Disease Health Care have been endorsed by RVA, 8 national colleges & bodies to date & have been officially recognised as an Accepted Clinical Resource by The Royal Australian College of GPs: bit.ly/natrecommendat…
#RareDiseaseDay '

From my own lived experience, I believe the Recommendations are a critical step forward. They provide a vision for how the fundamental gaps currently present in rare disease care may be bridged.” – Tim Fulton
More: bit.ly/natrecommendat…
#RareDiseaseDay RArEST ProjectECHO

“An estimated two million Australians live with a rare disease, which means most health professionals will likely encounter people with diagnosed & undiagnosed rare diseases during their career,” says UNSW Dr Emma Palmer (@emmagenetics), leading co-author of the Recommendations.

“The eight recommendations describe practical steps that Australian health professionals can take now to provide optimal care that aligns with the preferences and needs of people living with rare diseases,' says Dr Palmer ((Elizabeth) Emma Palmer (she / her)).