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Hoy es Día de Concientización sobre el síndrome de #Kleefstra #KSFact #KSAD21 #KleefstraAwareness Démosle visibilidad para conocerlo, detectarlo pronto e investigar Info en inglés👇🇬🇧Kleefstra syndrome kleefstrasyndrome.org/awareness-day-… Info 🇪🇸 gr. Somosdisc@👇 somosdisca.es/dia-mundial-de…

Congratulations to our amazing KS mom Tanja Zdolšek Draksler, PhD on the creation of IDefine Europe! We are so excited to collaborate with Tanja to help improve the future for our Kleefstra Syndrome community. #raredisease #Kleefstrasyndrome #togetherwecan #ehmt1

We're pleased to share the research findings from the IMAGINE ID study that many Unique families participated in. Find out more here: rarechromo.org/imagine-id-res… Thank you to all who took part in the study! #rarechromo #imagineID

The Simons Searchlight team created new registry reports with updated information contributed by our KS families. Your participation can help guide research efforts and priorities for your community. simonssearchlight.org/research/what-… #kleefstrasyndrome #IDefine #ehmt1 #simonsearchlight

Check out this upcoming Rare Disease workshop. You can attend virtually or in person. Register by September 11th. rarediseases.activehosted.com/index.php... #kleefstrasyndrome #iDefine #ehmt1 #raredisease

In memoriam 💜 Her Majesty Queen Elizabeth II 1926 - 2022

It's that time of year! KleefstraSyndrome.org and IDefine are teaming up again to create a video of our fabulous KS individuals for Kleefstra Syndrome Awareness Day. If you would like to take part, please add your photo to this post, or use this link: forms.gle/Cda5Snbgzxvcwr…

Kleefstra Syndome Awareness Day 2022 youtu.be/exmhsO6O4x8 IDefine #KSStrong #KSFamily #kleefstrasyndrome

New ‘Prenatal Genetic Testing and Diagnosis guide'! The guide is designed to support families who receive a rare chromosome or gene disorder diagnosis during their #pregnancy. Available to read & download free at rarechromo.org/practical-guid… #rarechromo #GCChat

Join us on Saturday 1st October at 4pm (BST) for an informative webinar from Cara Adams, Speech and Language Therapist, and discussion about speech and language in Kleefstra Syndrome. Please register your interest by emailing: [email protected] #kleefstrasyndrome

New research opportunity, seeking parents & caregivers of children/yp w/long-term conditions/disabilities for a study looking at usefulness of online peer support groups for reducing loneliness. To find out more: uclpsych.eu.qualtrics.com/.../SV_aibsDRz…

🧐#EHMT1 #Kleefstra syndrome ‼️#DNA #methylation 🌟#epigenetics 🎯copy number variation 👉#neurodevelopmental #disorder 🔗 High-Quality Article Sharing: …epublishstorage.blob.core.windows.net/0833dc0f-ab5f-…

Francesca, Francesca Wicks, an Information Officer Unique, is launching a new research project on understanding experiences of adults with siblings affected by rare chromosome/gene disorders. To find out more, inc how to take part, see rarechromo.org/new-adult-sibl…

Questions about rare chromosome and/or gene disorders? Received a diagnosis for your child/adult family member/yourself? The Unique 'Listening Ear' telephone & email helpline team are here to help. Email [email protected] or give us a call. #genetics #genomics

Our team are still welcoming families to take part in our #speech and #language study in #KleefstraSyndrome (#EHMT1). For more information please email: [email protected]. IDefine Kleefstra Syndrome #kleefstra Kleefstra syndrome

Hearing loss is a feature of some rare chromosome & single gene disorders, so to coincide with #deafawarenessweek we've published our new Hearing Loss guide for those affected. It's free of charge from our website: rarechromo.org/practical-guid… #hearingloss #deafaware

This week is #carersweek & if you care for someone with a rare chromosome or gene disorder, we care about you. Take a moment to read our 'Carers Wellbeing' guide at rarechromo.org/practical-guid… .... it's so important to remember to care for yourself too.

Today is #rarechromoday - a day to celebrate all those living with rare #chromosome and #gene disorders & their families, and to raise awareness. Share our posts, wear blue & yellow & let's loudly and proudly celebrate Uniqueness! #genomics #genetics

Everyone should be able to enjoy sport, leisure & days out. For many w/rare chromosome & gene disorders, accessing them can be tricky. In this free guide we've included some popular, accessible ideas. See rarechromo.org/practical-guid… #sports #leisure #daysout #disability #inclusion