So nice to be at the Clinical Genetics Society meeting in beautiful Worcester College Oxford today #cgs #cgs 2023 #clingensoc #clinicalgenetics

Are you interested in #Genomic #EQA ? You are!!!🙌 Then look no further than BOOTH 62 here at the #Fog2023 #MolecularPathology #NGS #NextGenerationSequencing #GenticCounselling #Pharmacogenomics #DNA #InheritedDisorders #HaematologicalNeoplasms #ClinicalGenetics #NewbornScreening

Genome sequencing according to TV dramas 😂 Luckily we have Clinical Scientists and bioinformaticians to help ExeterGenomes #NewAmsterdam #Genomics #clinicalgenetics #R14
youtu.be/oCO1GJm1FJQ

Marena Niewisch is a pediatrician at Hannover Medical School/Germany and a special volunteer in #NCI_ClinicalGenetics . Her postdoctoral fellowship was under Sharon A. Savage, M.D.. Her research interests are inherited bone marrow failure syndromes and telomere biology disorders.

Must read: Updated clinical recommendations for the management of children and adults with 22q11.2 deletion syndrome. #22q 11DS #22q @booterik bit.ly/3I9UyHd bit.ly/3HSg5Tk

What is an exon???

New paper w/ Dr. Edward Wallace and julie aspden in Cell Genomics : cell.com/cell-genomics/…

Cue 🧵1/8

And we have a full house! Professor Juha Kere gives an InFLAMES guest lecture and the title of his talk is Can we predict complex disordes. Exciting to hear what's the answer!
#clinicalgenetics #medicalgenetics
Turun yliopisto - University of Turku Åbo Akademi University Suomen Akatemia | Research Council of Finland

Learn from renowned consultants in #ClinicalGenetics and explore how robust #VariantInterpretation is needed to support patients with increased risk of #Cancer on our free @futurelearn course. futurelearn.com/courses/interp… St George's, University of London UK Cancer Genetics Group BSGM

Super interesting - making me re-evaluate my terminology and language!

Will we be able to stop calling it 'whole exome sequencing (WES)' and start calling it 'coding exome sequencing (CES)'?

#genomics #clinicalgenetics

Join us Live June 20 for the FREE #GOLDNeonatal2023 Keynote talk 'Optimizing Growth and Body Composition in Preterm Infants: Approaches to Neonatal Nutritional Care in Clinical Practice' with Dr. Mark Johnson! Reserve your free seat: goldneonatal.com/conference/spe…
#neonatology #NICU

My first #IMPAHC experience National Cancer Institute was incredible. Teamwork makes the dream work! Cancer Epi & Genetics #NCI_ClinicalGenetics
@jenniyoungphd @rowan_forbshep @awernerlinphd @chloehuelsnitz Cat Wilsnack @sharonsavagemd

NICE EVA 🔗nice.org.uk/about/what-we-…

Genedrive MT-RNR1 ID Kit was selected as one of the pilot projects. If you work in #NHS #neonatology #clinicalgenetics #audiology #pharmacy #NICU we invite you to support our pioneering work during this important consultation phase

4th BCM-CUHK-NUS Joint Symposium in #ClinicalGenetics is now **CALLING FOR ABSTRACTS

Deadline: 30 April 2023
cloud.itsc.cuhk.edu.hk/webform/view.p…

Venue: MAX Atria, Singapore (23-24 Sept 2023)
#baylorcollegeofmedicine #cuhk #nationaluniversityofsingapore #cuhk obg #callforabstract #singapore

Despeinados, pero mi paciente y yo nos queremos mucho 🥹

#clinicalgenetics #Pediatrics #RareDisease

Was such a great pleasure attending #ACMGMtg23 and meeting so many inspiring people.

Getting to explore the beauty of Utah and cross-country ski for the first time (as a Floridian☀️) were definitely nice pluses!
Can’t wait for next year ACMG #ClinicalGenetics

It's #RareDiseaseDay2023 !
💡1 in 17 will be affected by a rare disease at some point in their life
🧬99% of genetic conditions are classed as rare.
💭Thinking of my inspiring patients & their families + grateful for my brilliant colleagues who #CareForRare in #ClinicalGenetics

Let's support those affected by rare diseases!' #RareDiseaseDay #ClinicalGenetics #GeneticCounseling

4th BCM-CUHK-NUS Joint Symposium in Clinical Genetics
Highlight#1: Novel Therapies in #SkeletalDysplasias

Speaker: Prof. Brendan Lee
Chair and Professor, Molecular and Human Genetics
#BaylorCollegeofMedicine

#nationaluniversityofsingapore #cuhkobg #clinicalgenetics

I am happy to show any fellow trainee the protocol I followed & how we approached this. It’s not difficult, it just requires time & enthusiasm. #genomics #genetics #clinicalgenetics #generationgenome #100kGP #raredisease #genetics uk #belfastgenetics UK Clinical Genetics Genomics Education

We welcomed 21 clinicians and their research teams representing 8 specialties: #clinicalgenetics #neurology #endocrinology #psychology #epidemiology #speechlanguagepathology #endocrinology and #clinicalpathology

Congratulations to Emily Pearce! Winner of an #IMPAHC Student Abstract Award for her dissertation work on social media and uncertainty in #telomere biology disorders in collaboration with Team Telomere #NCI_ClinicalGenetics

A genetic counselor can help determine if genetic testing would benefit you and your family.

These people are proof that genetics can do just about anything.

In case anyone missed - updated clinical guidelines for #22q11 #digeorgesyndrome in children
- back-to-back with updated adult guidelines

👀 #ClinicalGenetics #MedicalGenetics #GeneChat #CardioTwitter #Neotwitter #RareDisease

“Genetics and precision oncology are outstripping our understanding of the psychosocial needs of AYAs,” Rowan Forbes Shepherd PhD
Insightful talk and important research on life with #LiFraumeni syndrome. #cancer #AYA #mentalhealth #IMPAHC #NCI_ClinicalGenetics Cancer Epi & Genetics