Joining this platform to highlight the need to better address inequities in access to genomic sequencing in children with rare disorders. Our new publication: Towards representative genomic research: the children’s rare disease cohorts experience. journals.sagepub.com/doi/10.1177/26…

I’m so honored to be featured in this piece. 🙏

Congratulations to Dr Elizabeth Emma Palmer, who received the 2023 Jeanette Moss Award for their outstanding work for people with intellectual disability. Please see the attached blog written by Julie, Emma and me. UNSW Disability Innovation Institute (Elizabeth) Emma Palmer (she / her) Bronwyn Terrill Self Advocacy Sydney Inc (SAS)

🚨Study alert ‼️ SRF encourages all #SYNGAP1 families to join this study and make sure the #SynGAP disease is reflected on the important papers that will result. Sign up now via the QR code.

Thank you SynGAP Research Fund (SRF) for highlighting the Brain Gene Registry, an NIH funded collaboration to better understand the relationship between rare genetic variants and neurodevelopment. Enrolling now! Intellectual & Dev Disabilities Research Center ClinGen GenomeConnect Mustafa Sahin

Thank you Siddharth Banka, @SofiaDouzgou and the Manchester Rare Conditions Centre team for an outstanding conference #MDC23 - continuing the tradition of excellence established by the legendary Dian Donnai

Dr. Liz Buttermore of the RSZ Translational Neuroscience Center’s #HumanNeuronCore showcases an extraordinary pipeline across #basicresearch and #clinicalresearch groups, to develop and deliver transformative #translational #therapies for IDD and NDDs, at #CDKL5 forum. Intellectual & Dev Disabilities Research Center

NeuroGenetics alert! Brain Gene Registry aims to advance knowledge of #GenotypePhenotype relationships in neurodevelopmental disorders bit.ly/3vPhtnf

🚨Editorial alert! We are honored to be mentioned by Ding et al. BMJ Quality & Safety who support our article about improving informed consent in #healthcare for people with intellectual disability. Read about it here: geneequal.com/current-news/i… Self Advocacy Sydney Inc (SAS) IDRS Inc. Australian Genomics

Clinical geneticists saving the world through gene-directed therapies #CGSCGG2024