Our inclusive research team www.GeneEQUAL.com have been nominated in category C of the consumer partnership in research awards. Would be over the moon if anyone who likes our work would vote for us. Closes midnight Sydney time accesscr-cpir.awardsplatform.com
24.07.2025 09:35 β π 1 π 1 π¬ 0 π 0
Thanks for sharing this story James. It's having huge impact around the world including here in Australia and very helpful in our ongoing advocacy for the need for undiagnosed disease programs helping families on the diagnostic odyssey tap into world leading research brains trusts like Nicky π
04.03.2025 11:07 β π 0 π 0 π¬ 0 π 0
Important points Nicky/ hope you do a letter to the editors.
03.03.2025 22:28 β π 0 π 0 π¬ 0 π 0
Very cute my 80 something mum from Leeds excitedly told me this morning about how genomics had finally gotten into the news ;) just the best story π₯°
03.03.2025 09:50 β π 1 π 0 π¬ 1 π 0
Beautiful Charli Kamper who lives with 22q11.2 deletion syndrome with Rick Guidotti on the channel 7 couch
For once people with a rare disease get the platform they deserve. So grateful for Charli who has a 22q11 deletion syndrome joining Rick Guidotti from Positive Exposure on Channel 7's sunrise show to talk about a new model of rare disease health care and our events www.rarediseasesnsw.org.au
01.03.2025 23:06 β π 5 π 1 π¬ 0 π 0
Stunning talk by @edenrobertson.bsky.social at our first #rarediseaseday conference at Sydney Children's hospital- comprehensive codesigned research with the inherited retinal disease community shaped by their priorities
28.02.2025 13:18 β π 2 π 0 π¬ 0 π 0
Thanks so much Eden for joining us and sharing your powerful research
28.02.2025 13:14 β π 1 π 0 π¬ 0 π 0
Lecture theatre with woman speaking at a podium at the front and a large projection screen.
@emmagenetics.bsky.social opens the #RareDiseaseDay event, highlighting some of the common challenges faced by the 300mill ppl impacted by a rare disease worldwide. From the diagnostic odyssey, limited info, to lack of holistic care - together w/ families, we must pave the future for rare diseases.
28.02.2025 02:02 β π 1 π 1 π¬ 1 π 0
Street art Melbourne: the genius thing that we did was, we didn't give up
A/Prof Nicky Whiffin giving a fascinating speech on classification of non coding variants
A/Prof Octavia Peck Palmer talking about all of our responsibility to bring equity to diagnoses for medically underserved populations
Fabulous talks today at the Royal College of Pathologist's annual conference in Naarm/Melbourne by @nickywhiffin.bsky.social and A/Prof Octavia Peck Palmer . Some fitting street art for these incredible researchers
Great to share our research www.geneequal.com and www.rarediseases.org.au
22.02.2025 10:42 β π 2 π 0 π¬ 1 π 0
News & Events β Rare Diseases NSWAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset
Join us at two awesome free #rarediseaseday events on the 28th Feb and 1st March at Sydney Children's Hospital in Randwick.
Building community and connections
Register links here rarediseasesnsw.org.au/home/news-ev...
Please share with your networks!
12.02.2025 10:39 β π 1 π 1 π¬ 0 π 0
Lisa Ewans and Emma Palmer at Australian parliament for rare disease day event
Mike Freelander speaking at rare disease event
Fiona Lawton speaking at rare disease event
The health minister speaking at rare disease event
Imagine more- the theme for this year's #rarediseaseday Honoured to represent Rare Voices Australia's medical and scientific advisory board at this year's federal parliamentary rare disease event with fellow clinicians Lisa Ewans and Prof Adam Jaffe
12.02.2025 10:34 β π 0 π 0 π¬ 0 π 0
December 2024 Newsletter
This is "December 2024 Newsletter" by GeneEQUAL on Vimeo, the home for high quality videos and the people who love them.
2024- that's a wrap! Check out our video newsletter here from the #inclusive GeneEQUAL team vimeo.com/1040945335?s... . Wishing you all a wonderful break and huge thanks to our coresearchers, advisors, funders and community ππ
24.12.2024 09:18 β π 1 π 0 π¬ 0 π 0
A doctor standing next to her brilliant poster
Very proud of our PhD student Dr Lavvina Thiyagarajan is exploring such an important topic in delving into what is known of #autistic individuals preferences and opinions about #genomic testing.. Watch this space for her systematic review ( spoiler autistic individuals have rarely been asked....)
29.11.2024 23:45 β π 1 π 0 π¬ 0 π 0
Webinar: the power of together
Hear from the GeneEQUAL team about how they work together to build more inclusive, person-centred and respectful health care and education.
The team @www.geneequal.com are stoked to be talking together at this first webinar from the National Centre of Excellence in Intellectual Disability Health nceidh.org.au/news/webinar...
28.11.2024 11:00 β π 6 π 0 π¬ 0 π 0
Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. http://rarechromo.org
CEO Unique (Rare Chromosome & Gene Disorders) π§¬
Junior Faculty at the Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD π¦¬. #Ubiquitin #RareDiseases #SignalTransduction #StemCells. Chilean π¨π±.
https://research.sanfordhealth.org/researchers-and-labs/bustos-lab
Assistant Professor @Stanford interested in how glia modulate neural circuits (with a circadian twist), mom of two amazing girls. Views are my own.
We are a world-leading centre for neurological research within the UCL Faculty of Brain Sciences. www.ucl.ac.uk/ion
Genetic Counselor, Professor/Dept. Head at the University of British Columbia. Editor in Chief: Journal of Genetic Counseling. Prez of International Society of Psychiatric Genetics. Unceded Coast Salish Territories.
They/them
Behavioural scientist dedicated to understanding and addressing the psychosocial needs of people impacted by a serious health condition - current inherited retinal diseases & AMD
βοΈ Postdoc, UNSW
βοΈ Senior researcher, CMRI
βοΈ Fulbright Scholar
Our mission is to enable the promise of genomics to better human health by creating the worldβs most advanced sequencing technologies.
Developmental neurobiologist studying cortical malformations (grey matter heterotopia) and #epilepsy at INMED, INSERM in Marseille, France
https://orcid.org/0000-0002-2436-8593
PhD student & Bioinformatician @The Danish Epilepsy Centre/University of Southern Denmarkπ©π°
Computational Biology π©βπ» Clinical Genetics 𧬠Rare Diseasesπ¦
[She/Her]
PGY1 Adult Neurology @Mayo Clinic Florida | Alumna, Precision Medicine in Epilepsy Fellowship @Cleveland Clinic | Vice Chair, ILAE Young Epilepsy Section | π§¬Neurogenetics | π§ Surgical Epilepsy | β‘Clinical Neurophysiology | π΅π‘Proud Ukrainian
β‘ Supporting breakthroughs for KCNQ2 families
𧬠Research | Advocacy | Hope
kcnq2cure.org
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease
by Stronach in Pittsburgh
Research group leader at Hasso Plattner Institute.
Medical genomics, precision medicine, epilepsy.
'that mother' - #R4Todayπ Patient advocate, mum and wife. Genomics fan. GRI genes. Rare disease life. Poet and photographer. MBE!
Postdoc exploring new gene editing therapies for the neurodevelopmental disorder #AngelmanSyndrome at #UNCZylkaLab, also interested in post-transcriptional gene regulation via non-coding RNAs in neuromuscular disease |she/her|π©πͺ πΊπ²
Scientist turned educator turned stay-at-home-mom turned rare disease parent/caregiver turned science engagement director and advocate.
www.cacna1a.org
On the CDKL5 in Color podcast you'll hear lessons learned direct from parent caregivers of children living with #CDKL5 Deficiency Disorder, a rare developmental and epileptic encephalopathy. www.CDKL5inColor.com
Pediatric Neuropsychologist @ Childrenβs Colorado. Assistant Professor @ Univ of Colorado. Epilepsy & (Neuro)genetics. Advocate. Decolonizer. Rescue dog mama x 3.