(Elizabeth) Emma Palmer (she / her)
@emmagenetics
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Clinical Geneticist and researcher. Aims to do inclusive research enabling person-centered, strengths-based rare condition care and support. Together we can đź’ś
Sydney, Australia
Joined September 2019
RT @HeidiRehm: See our paper in GIM here. If you publish on variants, PLEASE use or even better, just submit them….
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RT @GeneEQUAL: @GeneEQUAL announce yet another Inclusive Practice Award. Congratulations, Dr David Manser! 👏 Dr Manser listens to patients,….
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RT @GeneEQUAL: What an honour to be featured twice in the September issue of INSPIRE @ResAustralia GeneEQUAL share how they are improving g….
researchaustralia.org
In this 33rd issue of INSPIRE, we delve into the remarkable work being done in health and medical research and innovation, focusing on the needs and challenges of people with disabilities.
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RT @RareVoices: 🧑‍💻Visit the RARE Portal for current, reliable and straightforward rare disease information and resources customised for th….
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RT @M4RareDiseases: 🚩 Multi-system involvement 🚩. Multi-system involvement is one of the seven 'Red Flags' of Rare Disease according to our….
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RT @GeneEQUAL: GeneEQUAL attended #HGSA2024 & shared their recent studies about health & genetic education for students with intellectual d….
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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 @IvaStrnadova @JLSbioethics
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RT @RareVoices: RVA is excited to be attending the Human Genetics Society of Australasia conference! We are pleased to have a booth in the….
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RT @CureCLCN4: Teegan, born in 1986, lived years undiagnosed but pursued her dreams relentlessly. From a local café job to a special needs….
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RT @CureCLCN4: Join Gina Tan as she shares the journey & inspiration behind the founding of Cure CLCN4 and how we're striving to make a dif….
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RT @CureCLCN4: CLCN4-NDC is rare—only about 200 diagnosed worldwide, but many remain undetected due to low awareness and limited genetic te….
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New publication alert đź”˝.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 @WilhelmFound @UDNIss @AusGenomics @RareVoices @swanaus @GeneticAll_AU.
nature.com
npj Genomic Medicine - Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
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RT @RareVoices: Launched: 'Taking Action Together Toolkit: Improving Health & Wellbeing Outcomes for Australians Living with a Rare Disease….
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Proud academic mamma moment… look at this impactful research from superstar @ManjekahDunn @IvaStrnadova @UNSWMedicine @TheRACP @3DN_UNSW @UNSWObGyn_Paeds.
🚨Paper alert! We are honoured that our research article in @BMJ_Qual_Saf about improving informed healthcare consent for people with intellectual disability was named number 2 in the Top 10 articles list of 2023. Read about it here: @SelfAdvocacySyd
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RT @Unique_charity: The wait is over! Our very own pop song for #RareChromoDay, "Touch the Sky," is out now! .Share it with friends, family….
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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 & follow details in flyer ⬇️
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RT @RareVoices: Share this with your #raredisease community!. There are approximately 7,000 different rare diseases. Although individually….
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RT @shahida_moosa: #undiagnosedhackathon2024.Go Team Space - wonderful teamwork resulted in 3 new diagnoses just from our group!.@TikaTkema….
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Woo hoo! The very brilliant @LisaJEwans won a prestigious @ejhg_journal prize for her highly cited paper @eshgsociety conference in Berlin. Honoured to have this incredible clinician scientist as a colleague and friend @hgsa @UNSWMedicine @SCHNkids @jodieingles27 @RareVoices
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