Genetics in Medicine
@gimjournal.bsky.social
Genetics in Medicine, an official journal of @theacmg.bsky.social
Site use policy: http://bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua
Site use policy: http://bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua
Reposted by Genetics in Medicine
Early #enzymereplacementtherapy in infantile-onset #Pompedisease improves survival and motor outcomes, but patients remain at risk for antibody development, highlighting the need for inducing and maintaining immune tolerance. bit.ly/4bQbzoV #GIMO #NewbornScreening
January 23, 2026 at 5:38 PM
Early #enzymereplacementtherapy in infantile-onset #Pompedisease improves survival and motor outcomes, but patients remain at risk for antibody development, highlighting the need for inducing and maintaining immune tolerance. bit.ly/4bQbzoV #GIMO #NewbornScreening
Is genomic testing worth it? This systematic review suggests yes, NGS is cost-effective, especially when used early. But studies vary wildly in methods and assumptions. Standardization is needed for policy. bit.ly/49BFVKt
January 23, 2026 at 1:41 AM
Is genomic testing worth it? This systematic review suggests yes, NGS is cost-effective, especially when used early. But studies vary wildly in methods and assumptions. Standardization is needed for policy. bit.ly/49BFVKt
Lessons from 100,000 Genomes Project that improved NHS genome sequencing: (1) exclude phenotypes with <10% yield, (2) larger panels beat stacking small ones, (3) testing beyond trios adds little. bit.ly/3Zq4vrK
January 22, 2026 at 2:31 AM
Lessons from 100,000 Genomes Project that improved NHS genome sequencing: (1) exclude phenotypes with <10% yield, (2) larger panels beat stacking small ones, (3) testing beyond trios adds little. bit.ly/3Zq4vrK
New research reveals that people with #NF1 face higher mortality from nervous system diseases in addition to cancer, with nearly half of years lost due to non-neoplastic causes. bit.ly/49Nydf0 #causeofdeath #neurofibromatosis
January 21, 2026 at 12:46 AM
New research reveals that people with #NF1 face higher mortality from nervous system diseases in addition to cancer, with nearly half of years lost due to non-neoplastic causes. bit.ly/49Nydf0 #causeofdeath #neurofibromatosis
Reposted by Genetics in Medicine
Survey of healthcare providers in Nepal reveals major barriers to genetic services, yet strong interest in further training highlights need for investment and expansion. bit.ly/4sLDxrZ #GIMO #CapacityBuilding #GeneticDisorders #GeneticServices #NeedsAssessment #Nepal
January 16, 2026 at 11:23 PM
Survey of healthcare providers in Nepal reveals major barriers to genetic services, yet strong interest in further training highlights need for investment and expansion. bit.ly/4sLDxrZ #GIMO #CapacityBuilding #GeneticDisorders #GeneticServices #NeedsAssessment #Nepal
Reposted by Genetics in Medicine
Rapid genome-based testing with an average TAT of 4.9 days identified reportable findings in 33% of critically ill infants, supporting its utility across a broad patient population. bit.ly/49q3i9T #GIMO #GeneticTesting #Infants #Neonatology #RapidGenomicTesting
January 15, 2026 at 6:43 PM
Rapid genome-based testing with an average TAT of 4.9 days identified reportable findings in 33% of critically ill infants, supporting its utility across a broad patient population. bit.ly/49q3i9T #GIMO #GeneticTesting #Infants #Neonatology #RapidGenomicTesting
Can't classify that RB1 👁️ missense variant? Luciferase assay measuring E2F1 inhibition discriminates pathogenic from benign. 5/16 VUS reclassified as likely pathogenic. bit.ly/3NjbxMo
January 13, 2026 at 8:01 PM
Can't classify that RB1 👁️ missense variant? Luciferase assay measuring E2F1 inhibition discriminates pathogenic from benign. 5/16 VUS reclassified as likely pathogenic. bit.ly/3NjbxMo
Small cohorts and siloed data limit rare disease research. RARE-X: one platform, 74 conditions, 7,400+ participants across 93 countries. Patient-driven, symptom-based, HPO-mapped, and shareable, built for discovery! bit.ly/3Yy7xKe
January 13, 2026 at 12:16 AM
Small cohorts and siloed data limit rare disease research. RARE-X: one platform, 74 conditions, 7,400+ participants across 93 countries. Patient-driven, symptom-based, HPO-mapped, and shareable, built for discovery! bit.ly/3Yy7xKe
Bigger CFTR panels, better CF screening? Not necessarily. 25 years of Massachusetts data show 98.7% sensitivity with just 39 variants. Expanded sequencing adds little yield but more cost and carrier detection. Simpler algorithm + good IRT cutoff = 🥇 bit.ly/45L23zw
January 9, 2026 at 11:37 PM
Bigger CFTR panels, better CF screening? Not necessarily. 25 years of Massachusetts data show 98.7% sensitivity with just 39 variants. Expanded sequencing adds little yield but more cost and carrier detection. Simpler algorithm + good IRT cutoff = 🥇 bit.ly/45L23zw
How many cardiac genetics 🫀 diagnoses are missed? Reanalyzing data with broader gene lists, intronic regions, mitochondrial DNA, and RNA splicing picked up 6% more diagnoses in previously negative cases! bit.ly/49nZEMo
January 9, 2026 at 1:16 AM
How many cardiac genetics 🫀 diagnoses are missed? Reanalyzing data with broader gene lists, intronic regions, mitochondrial DNA, and RNA splicing picked up 6% more diagnoses in previously negative cases! bit.ly/49nZEMo
New XLID gene: KLHL13 keeps Aurora Kinase B in check during mitosis. LOF results in genomic instability and abnormal brain development. The exciting part? AURKB inhibitors rescue both cell and zebrafish models🐟. A targetable pathway for NDDs! bit.ly/4pxzGMh
January 7, 2026 at 11:52 PM
New XLID gene: KLHL13 keeps Aurora Kinase B in check during mitosis. LOF results in genomic instability and abnormal brain development. The exciting part? AURKB inhibitors rescue both cell and zebrafish models🐟. A targetable pathway for NDDs! bit.ly/4pxzGMh
New research calls for a standardized approach to #TTN variant interpretation and deeper investigation into missing heritability in individuals with heterozygous TTNtv. bit.ly/4qgLW5k #titinopathies #cardiomyopathies #neuromusculardisorders
January 6, 2026 at 11:36 PM
New research calls for a standardized approach to #TTN variant interpretation and deeper investigation into missing heritability in individuals with heterozygous TTNtv. bit.ly/4qgLW5k #titinopathies #cardiomyopathies #neuromusculardisorders
Genotype-first approaches in genomic research enable a deeper, less biased understanding of #Mendelian diseases, improving assessment of their penetrance and presentation. bit.ly/45vtLAh #Genomics #AllofUS #PrecisionMedicine
January 6, 2026 at 1:02 AM
Genotype-first approaches in genomic research enable a deeper, less biased understanding of #Mendelian diseases, improving assessment of their penetrance and presentation. bit.ly/45vtLAh #Genomics #AllofUS #PrecisionMedicine
Genetics of infertility: Rare de novo EMX2 variants cause hypogonadotropic hypogonadism, developmental delay and hearing loss. bit.ly/3MV47P5 #GeneticsInFertility #exome
December 26, 2025 at 7:07 PM
Genetics of infertility: Rare de novo EMX2 variants cause hypogonadotropic hypogonadism, developmental delay and hearing loss. bit.ly/3MV47P5 #GeneticsInFertility #exome
What's new in mitochondrial genetics? MitoPhen v2 characterizes phenotypes in primary mitochondrial diseases and expands disease-gene relationships bit.ly/4aX9OWv
December 19, 2025 at 9:35 PM
What's new in mitochondrial genetics? MitoPhen v2 characterizes phenotypes in primary mitochondrial diseases and expands disease-gene relationships bit.ly/4aX9OWv
December 17, 2025 at 10:32 PM
Reposted by Genetics in Medicine
Short- and long-read genomic sequencing reveal diverse breakage-fusion mechanisms in 17 #ringchromosome cases, offering nucleotide-level insight into ring formation and cytogenomic instability. bit.ly/49ePnTN #GIMO #SRGS #LRGS #T2T #RingFormationMechanisms
December 16, 2025 at 6:54 PM
Short- and long-read genomic sequencing reveal diverse breakage-fusion mechanisms in 17 #ringchromosome cases, offering nucleotide-level insight into ring formation and cytogenomic instability. bit.ly/49ePnTN #GIMO #SRGS #LRGS #T2T #RingFormationMechanisms
Reposted by Genetics in Medicine
Translational readthrough-inducing drugs (TRIDs), highlighting NV848, shows promise in restoring #CFTR function in #cysticfibrosis patients with #nonsensevariants, offering hope for personalized therapy where current treatments fall short. bit.ly/48Ilco0 #GIMO
December 15, 2025 at 11:28 PM
Translational readthrough-inducing drugs (TRIDs), highlighting NV848, shows promise in restoring #CFTR function in #cysticfibrosis patients with #nonsensevariants, offering hope for personalized therapy where current treatments fall short. bit.ly/48Ilco0 #GIMO
New study assesses the quality of #YouTube videos on #epigenetics, highlighting accurate information, misconceptions, and unsupported claims. bit.ly/44rEH1i
December 12, 2025 at 8:54 PM
New study assesses the quality of #YouTube videos on #epigenetics, highlighting accurate information, misconceptions, and unsupported claims. bit.ly/44rEH1i
#Genetic #testing offers valuable insights for #psychiatric patients, yet challenges in result interpretation highlight the need for improved understanding of its risks and benefits. bit.ly/4iP3BOm
December 11, 2025 at 6:19 PM
#Genetic #testing offers valuable insights for #psychiatric patients, yet challenges in result interpretation highlight the need for improved understanding of its risks and benefits. bit.ly/4iP3BOm
New research highlights the importance of better patient-provider communication about #breast #cancer risk and bridging gaps in #polygenic #risk score literacy to boost personalized screening uptake. bit.ly/4iHwkVe #PRS
December 9, 2025 at 4:49 PM
New research highlights the importance of better patient-provider communication about #breast #cancer risk and bridging gaps in #polygenic #risk score literacy to boost personalized screening uptake. bit.ly/4iHwkVe #PRS
Reposted by Genetics in Medicine
Minimally invasive retrieval of #cardiomyocytes via ablation catheters enables successful DNA extraction & sequencing, paving the way for #mosaicism detection & novel cardiac genetic research bit.ly/4pPYksf #GIMO #Epigenetics #ArrhythmogenicRightVentricularCardiomyopathy
December 5, 2025 at 9:28 PM
Minimally invasive retrieval of #cardiomyocytes via ablation catheters enables successful DNA extraction & sequencing, paving the way for #mosaicism detection & novel cardiac genetic research bit.ly/4pPYksf #GIMO #Epigenetics #ArrhythmogenicRightVentricularCardiomyopathy
Reposted by Genetics in Medicine
A deep intronic variant in PHKG2 caused #pseudoexon inclusion and GSD IX γ2 in two siblings, highlighting a pathway to detect and reverse non-coding splicing defects using RNA-seq and #antisensetherapy. bit.ly/4pMlNdS #GIMO #GlycogenStorageDisease #NonCodingVariants
December 3, 2025 at 9:42 PM
A deep intronic variant in PHKG2 caused #pseudoexon inclusion and GSD IX γ2 in two siblings, highlighting a pathway to detect and reverse non-coding splicing defects using RNA-seq and #antisensetherapy. bit.ly/4pMlNdS #GIMO #GlycogenStorageDisease #NonCodingVariants
Reposted by Genetics in Medicine
Studies showed physicians were less likely to recommend surgery or intensive interventions when GS predicted neurodevelopmental or cancer risks for ill children with CHD. bit.ly/4iIsk71 #GIMO #CriticalCare #Pediatrics #Rationing #GenomicTesting #CongenitalHeartDisease
December 2, 2025 at 6:55 PM
Studies showed physicians were less likely to recommend surgery or intensive interventions when GS predicted neurodevelopmental or cancer risks for ill children with CHD. bit.ly/4iIsk71 #GIMO #CriticalCare #Pediatrics #Rationing #GenomicTesting #CongenitalHeartDisease
Reposted by Genetics in Medicine
C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis
December 2, 2025 at 1:04 AM
C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis