#ClinicalGenetics
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jradnephro.bsky.social
NEXT WEEK: Join us for ‘#ClinicalGenetics in #KidneyTransplantation’ - a virtual conference on Friday, December 13, 2024 – 7.25 ACCME Credits.
www.eventleaf.com/e/ClinicalGe...

#Genomics #Genetics #MedicalGenetics #Kidney #Nephrology #NephPearls #CKD
December 4, 2024 at 7:36 PM
elaneyk.bsky.social
Absolutely brilliant news! The power of #science, #pharma, #clinicalgenetics and #genetherapy. A much needed good news story on the value of science, research and translation to medicines. 👏👏
news.rte.ie RTÉ News @news.rte.ie · Feb 18
A 31-year-old Sligo man who was functionally blind has got his sight back, after being treated with a new gene therapy at the Mater University Hospital in Dublin.
Functionally blind man gets sight back after gene therapy
A 31-year-old Sligo man who was functionally blind has got his sight back, after being treated with a new gene therapy at the Mater University Hospital in Dublin.
www.rte.ie
February 18, 2025 at 1:52 PM
academiceurope.bsky.social
Job Alert

Bioinformatiker / Bioinformatikerin (m/w/d)

Location: Dresden
Deadline: June 30, 2026

www.academiceurope.com/ads/bioinfor...

#hiring #Bioinformatics #Genomics #CancerResearch #MachineLearning #PrecisionMedicine #DataScience #ClinicalGenetics #LifeSciences
May 19, 2026 at 7:57 AM
kirylukk.bsky.social
NEXT WEEK: Join us for ‘#ClinicalGenetics in #KidneyTransplantation’ - a virtual conference on Friday, December 13, 2024 – 7.25 ACCME Credits.
www.eventleaf.com/e/ClinicalGe...
#Genomics #Genetics #MedicalGenetics #Kidney #Nephrology #NephPearls #CKD
Clinical Genetics in Kidney Transplantation
7.25 ACCME Credits, Virtual Conference
www.eventleaf.com
December 5, 2024 at 1:24 AM
switzerlandomics.bsky.social
😈 ACMG Validator for genetics is now open and free. 🇨🇭🧬 switzerlandomics.ch/technologies...

#genomics #genetics #acmg #raredisease #precisionmedicine #dna #bioinformatics #clinicalgenetics #variantinterpretation #geneticmedicine #biotechnology #lifesciences #medicine #science
June 12, 2026 at 7:07 AM
ij809.bsky.social
📢🧬 Happy #MedicalGeneticsAwareness week 🧬📢

This week, lets share knowledge, and raise #awareness about the importance of medical genetics in healthcare.
#ACMGmtg25 #LA #LosAngeles #IamaMedicalGeneticist #clinicalgenetics #hereditarydiseases #hereditarycancer #rarediseases
March 20, 2025 at 4:10 PM
shaneir.bsky.social
We've been doing this for years in #ClinicalGenetics - once you get used to it, it's not hard, and brings great benefit. My current letters incorporate an edit of my Epic clinic note and a summary, plus patient info from Unique rarechromo.org if appropriate, copied electronically to GP, Paeds etc.
Unique | Understanding Rare Chromosome and Gene Disorders
rarechromo.org
November 16, 2024 at 10:56 PM
shaneir.bsky.social
Recording a pedigree is a crucial part of the #genomics #clinicalgenetics consultation - but it's a pain in electronic health records. #PedigreeMD is a format I'm working on to rapidly & intuitively note down basic pedigree information in a simple text box/editor. github.com/shanemuk/ped...
github.com
April 12, 2025 at 10:22 PM
shaneir.bsky.social
Yep - another (potentially very useful!) tool in our kit - already helping prioritise variants for real patients. #Genomics #ClinicalGenetics
January 28, 2026 at 6:17 PM
sorchainenil.bsky.social
www.linkedin.com/posts/jimd_m...
🧪🧪🧪
#metabolicmysteries #raredisease #functionalgenomics #clinicalgenetics #jimdpodcast #thinkmetabolic | Journal of Inherited Metabolic Disease
🎧 New Metabolic Mysteries A child with severe developmental delay. An unexpected tumour. And a single de novo variant that no one could quite explain. In this episode of Metabolic Mysteries, Dr Sall...
www.linkedin.com
December 10, 2025 at 8:23 PM
genox-veille.fr
A systematic approach to detect homozygous copy number losses was applied to exome data from 2,021 Indian patients with suspected Mendelian disorders.

#genomics #ClinicalGenetics #RareDisease
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-ra
Ultra-rare recessive disorders — homozygous copy number losses on exome · Eur J Hum Genet 2026
www.genox-veille.fr
July 3, 2026 at 1:47 PM
genox-veille.fr
This study leverages a genomic database (LODB) enriched for consanguinity and founder effects to accelerate validation of still-tentative gene-disease relationships (GDR).

#genomics #ClinicalGenetics #RareDisease
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosi
Recessive Mendelian disorders (cohort enriched for consanguinity) · Genet Med 2026
www.genox-veille.fr
July 15, 2026 at 1:00 PM
genox-veille.fr
The diagnostic yield of a WES/WGS-based 51-gene virtual panel plus mitochondrial DNA was assessed in 62 partially pre-screened patients with hereditary optic atrophy.

#genomics #ClinicalGenetics #RareDisease
Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic A
Hereditary optic atrophy · Clin Genet 2026
www.genox-veille.fr
July 6, 2026 at 2:33 PM
gimopenjournal.bsky.social
Parents across genetics, #oncology, and #prenatalcare see value in #genetictesting, but priorities differ. This highlights the need for setting-specific tools to measure personal utility. bit.ly/4nLLwTh #GIMO #PersonalUtility #ClinicalGenetics
October 10, 2025 at 6:06 PM
genox-veille.fr
Ménière disease, a chronic inner-ear disorder (recurrent vertigo, fluctuating sensorineural hearing loss, tinnitus), remains poorly understood.

#genomics #ClinicalGenetics #RareDisease
Genome-wide analysis implicates inner ear development in Ménière disease.
Ménière disease · Am J Hum Genet 2026
www.genox-veille.fr
July 11, 2026 at 1:00 PM
genox-veille.fr
RNA-binding proteins regulate gene expression and several have been implicated in brain function and behaviour.

#genomics #ClinicalGenetics #RareDisease
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral,
ELAVL2-related neurodevelopmental disorder · Am J Hum Genet 2026
www.genox-veille.fr
August 16, 2026 at 6:22 AM
genox-veille.fr
This study identifies KATNA1, encoding the p60 subunit of katanin, as a previously unrecognised cause of autosomal dominant macular dystrophy.

#genomics #ClinicalGenetics #RareDisease
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.
Dominant macular dystrophy (inherited retinal disease) · Res Sq 2026
www.genox-veille.fr
July 24, 2026 at 1:00 PM
genox-veille.fr
The authors describe a hypermethylated CCG repeat expansion at Xp22, in the 5'UTR of BCLAF3, in males with neurodevelopmental disorders.

#genomics #ClinicalGenetics #RareDisease
Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.
X-linked neurodevelopmental disorder · Genome Med 2026
www.genox-veille.fr
August 1, 2026 at 7:05 AM
genox-veille.fr
Inherited prostate cancer risk assessment currently relies on binary pathogenic variant carrier status, ignoring gene-specific heterogeneity and polygenic background.

#genomics #HereditaryCancer #ClinicalGenetics
Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.
Prostate cancer, inherited genetic risk · J Med Genet 2026
www.genox-veille.fr
August 16, 2026 at 6:24 AM
genox-veille.fr
Heterozygous variants in POLR3A, encoding a subunit of the RNA Polymerase III (Pol III) complex, were identified in 11 patients from 8 unrelated families and cause early-onset progressive sensorimotor peripheral neuropathy.

#genomics #ClinicalGenetics #RareDisease
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy
RNA Polymerase III-related peripheral neuropathy · Ann Neurol 2026
www.genox-veille.fr
June 28, 2026 at 8:30 PM
genox-veille.fr
An international collaboration assembled 21 affected individuals carrying 18 rare heterozygous protein-altering ZNF536 variants, 15 of 18 being predicted loss-of-function alleles.

#genomics #ClinicalGenetics #RareDisease
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavio
Neurodevelopmental disorder with prominent behavioral features · Am J Hum Genet 2026
www.genox-veille.fr
September 9, 2026 at 2:03 PM
genox-veille.fr
Cohesin release factors (WAPL, PDS5A, PDS5B) had never been tied to Mendelian disease.

#genomics #ClinicalGenetics #RareDisease
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.
WAPL-related neurodevelopmental disorder and 10q22.3q23.2 genomic disorder · Am J Hum Genet 2026
www.genox-veille.fr
July 19, 2026 at 11:39 AM
gimopenjournal.bsky.social
ENIGMA VCEP guidelines significantly improve BRCA1/BRCA2 variant interpretation, reducing VUS rates and streamlining clinical diagnostics bit.ly/4bHELwk #GIMO #ACMGAMP #BRCA1 #BRCA2 #VUS #ColdSpot #VariantClassification #UCSCGenomeBrowser #ClinicalGenetics #SingleNucleotideVariant #SNV #ENIGMA
Screenshot of Figure 2: Reclassification of VUS at 3 distinct transition points (ACMG/AMP, ACMG/AMP + SVI, and ENIGMA): A. The top section of the figure shows the number of variants n as bars on the y-axis and their classification into (benign, likely benign, and variants of uncertain significance [VUS]) in their corresponding color (green, light green, and yellow, respectively) at 3 distinct transition points t1, t2, and t3 (x-axis). The transition points refer to the initial interpretation and the 2 reanalysis: American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) 2015 (t1) represent the baseline VUS for this study. These variants were classified as VUS between January 2018 and November 2023. Sequence Variant Interpretation Working Group (SVI) recommendations from 2015 onward were considered, depending on the time of classification, eg, PM2 used as supporting evidence strength for all variants. ACMG/AMP + SVI (t2) lists variants that have been reclassified using new annotated data as of November 2023 (eg, ClinVar, BRCA Exchange, literature, and in-house data) and using all current recommendations from the SVI as of November 2023. Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Variant Curation Expert Panels (t3) are variants that have been reclassified based on the same new data as in t2 but using the ENIGMA specifications. The transient lines between the 3 bars, and the numbers indicate how many variants have changed from one class to another between 2 time points.
March 11, 2025 at 7:51 PM
genox-veille.fr
Developmental language disorder (DLD) is a neurobiological condition marked by impaired language development despite adequate linguistic input and normal intelligence; the contribution of monogenic causes is largely unknown and diagnostic genetic testing is…

#genomics #ClinicalGenetics #RareDisease
Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.
Severe developmental language disorder · Eur J Hum Genet 2026
www.genox-veille.fr
September 1, 2026 at 6:36 PM
genox-veille.fr
21-hydroxylase deficiency combines cortisol and aldosterone deficiency with hyperandrogenism, and standard treatment of classic forms relies on glucocorticoid, sometimes mineralocorticoid, replacement to prevent adrenal crises.

#genomics #ClinicalGenetics #RareDisease
Survival without treatment of patients with classic and non-classic 21-hydroxylase deficiency.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency · J Clin Endocrinol Metab 2026
www.genox-veille.fr
August 11, 2026 at 1:19 PM