Melbourne, Victoria
Joined March 2016
- Tweets99
- Following80
- Followers66
- Likes146
Michelle de Silva retweeted
This #RareDiseaseDay, Professor Tiong Tan talks about the importance of Rare Disease Now (RDNow) - a collaborative program that accelerates our understanding of rare diseases and develops new treatments for one in 12 babies born with a rare #genetic condition.
Michelle de Silva retweeted
Has your child had genomic testing after January 2017? Are you interested in sharing your experiences with genetics services to improve supports for families? @MCRI_for_kids invites you to complete an online survey: redcap.mcri.edu.au/surveys/?… @mgds26 @Ellylynch3
Michelle de Silva retweeted
MCRI researchers have made a breakthrough discovery after identifying a new genetic #developmentaldisorder and uncovering its link to a tumor suppressor #gene. @TeamVCGS @Medicalrepublic @0SEMS0
Read more: medicalrepublic.com.au/new-n…
#raredisease #ScienceTwitter #medicalresearch
Michelle de Silva retweeted
An international research collaboration, led by #MCRI has discovered a new #neurodevelopmental disorder after uncovering its link to a #tumor suppressor #gene, ending the diagnostic journey for 32 families around the world.
Learn more: mcri.edu.au/news/researchers…
Michelle de Silva retweeted
Prof Tiong Tan said the findings highlighted the power of new #genomic sequencing technologies and multi-national #collaborations to diagnose rare conditions to provide precise clinical care and accurate #genetic counselling.
Michelle de Silva retweeted
Invitation for a research study: "Supporting families through genomic testing". Participation is open to parents or guardians of children who have had genomic testing since January 2017. Please see the link for more information and to take the survey bit.ly/3MwYFgO.
Michelle de Silva retweeted
Kirsten Allan is a genetic counsellor with RDNow. Her role provides support to families accessing genomic testing and enables them to make informed decisions. #rarediseaseday
Michelle de Silva retweeted
Ee Ming Wong is a medical scientist with RDNow and works to identify DNA changes in affected children and whether these changes are disease-causing. #rarediseaseday
Michelle de Silva retweeted
Natalie Stewart @nataliestewartp is a clinical assistant with RDNow. She supports geneticists, genetic counsellors and scientists who work together to achieve diagnosis of rare disease and support families. #rarediseaseday
Michelle de Silva retweeted
Simon Sadedin is a bioinformatician at VCGS. His role involves processing complex genomic data into a useable format for other scientists and clinicians, to help achieve diagnoses. #rarediseaseday
Michelle de Silva retweeted
Dr Nicole Van Bergen is a research scientist focusing on rare neurodevelopmental diseases, working to improve diagnosis and treatment options. #rarediseaseday
Michelle de Silva retweeted
Lucy Kempster-Perez works in the MCRI Tissue Culture Lab with VCGS and ensures patient samples are processed and properly stored to ensure that analysis of the DNA is accurate, and available for future research. #rarediseaseday
Michelle de Silva retweeted
Megan Ball is a clinical genetics fellow with RDNow and plays a role in the assessment and diagnosis of children with rare diseases. #rarediseaseday
Michelle de Silva retweeted
Having seen the horrific health consequences of war in Afghanistan, I am appalled at the unfolding situation in #Ukraine today. There is no moral defence for such tragedy.
Michelle de Silva retweeted
Thank you Heather Renton @heatherrenton for sharing your story with us. At @TeamVCGS, we aim to provide a service that puts people at the heart of everything we do.
We are proud to have been able to help your family 🥰
So many #rarediseases have similar symptoms, making them difficult to diagnose. I am incredibly grateful to @TeamVCGS @RCHMelbourne @MCRI_for_kids that we received our daughter's diagnosis over 5 years ago. With around 250 known cases worldwide, #FOXP1 Syndrome is extremely #rare
Michelle de Silva retweeted
And it's a wrap! Our final #AcuteCare @AusGenomics rapid #genomics in the NICU/PICU workshop done! Thank you to all our wonderful facilitators @ChiragVPatel79 @drlildownie @KirniGC @mgds26 @Ellylynch3 @DonnaRHalton @sophbouff @heartfulpaeds @emmagenetics and more!🇦🇺🧬⏱️👏👏👏
Michelle de Silva retweeted
More than 400,000 people across the world are living with Usher syndrome. To celebrate Usher Syndrome Awareness Day today we would like to help raise the profile of this rare disease, the impact it has on patients' lives and the support available.
ALT The picture is of a the legs and hands of a seated child, the child is holding a hearing device in their hands.
Michelle de Silva retweeted
This ✅
"When you have a rare disease, you face two battles. One being the illness itself, and the other, living in a world where so few people understand what you're up against."
#RareDisease #RareHeroes #RareHope
