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
Standardizing data access agreements is essential to keep human genomic data safe. bit.ly/4oTVEd5 #DataStewardship @GA4GH
November 21, 2025 at 7:22 PM
Standardizing data access agreements is essential to keep human genomic data safe. bit.ly/4oTVEd5 #DataStewardship @GA4GH
Can single-case experimental designs help overcome treatment barriers for individuals with #RareDisease? bit.ly/3X4dvBT #Nof1studies #PersonalizedMedicine
November 20, 2025 at 10:24 PM
Can single-case experimental designs help overcome treatment barriers for individuals with #RareDisease? bit.ly/3X4dvBT #Nof1studies #PersonalizedMedicine
ClinGen SCID Expert Panel developed gene-specific ACMG/AMP variant classification rules for 7 major SCID genes (ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, RAG2), resolving 17 ClinVar conflicts and clarifying classification of 85% of variants bit.ly/3LDXJv2
November 19, 2025 at 4:49 PM
ClinGen SCID Expert Panel developed gene-specific ACMG/AMP variant classification rules for 7 major SCID genes (ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, RAG2), resolving 17 ClinVar conflicts and clarifying classification of 85% of variants bit.ly/3LDXJv2
In >1,000 rare disease trios tested, ES and GS showed similar diagnostic yields (~34%) and turnaround time (~8 wks). But GS’s added utility (finding repeat expansions, mtDNA, SVs) wasn’t fully implemented, true potential is likely greater! bit.ly/4i0IKay
November 18, 2025 at 9:08 PM
In >1,000 rare disease trios tested, ES and GS showed similar diagnostic yields (~34%) and turnaround time (~8 wks). But GS’s added utility (finding repeat expansions, mtDNA, SVs) wasn’t fully implemented, true potential is likely greater! bit.ly/4i0IKay
Reposted by Genetics in Medicine
#Clinicalalgorithm helps to identify people likely to have G6PD deficiency, helping improve diabetes monitoring where HbA1c may underestimate blood sugar levels, especially in patients with African ancestry. bit.ly/3WTihSC #GIMO #Glucose6PhosphateDehydrogenaseDeficiency
November 14, 2025 at 10:59 PM
#Clinicalalgorithm helps to identify people likely to have G6PD deficiency, helping improve diabetes monitoring where HbA1c may underestimate blood sugar levels, especially in patients with African ancestry. bit.ly/3WTihSC #GIMO #Glucose6PhosphateDehydrogenaseDeficiency
Broad genomic screening beyond ACMG secondary findings genes finds more actionable results (35% of patients) BUT generates 30 VUS per patient & takes 7-13x longer to analyze. High yield comes with high burden. Automation needed for clinical feasibility. bit.ly/3JSQNte
November 13, 2025 at 5:43 PM
Broad genomic screening beyond ACMG secondary findings genes finds more actionable results (35% of patients) BUT generates 30 VUS per patient & takes 7-13x longer to analyze. High yield comes with high burden. Automation needed for clinical feasibility. bit.ly/3JSQNte
Among 532 rare disease diagnoses from genome sequencing, ~5% were potentially amenable to bespoke antisense oligonucleotide (ASO) therapy, and ~2% remained viable after delivery/disease review. Early diagnosis critical: most came too late. bit.ly/3LX0ZBC
November 12, 2025 at 9:31 PM
Among 532 rare disease diagnoses from genome sequencing, ~5% were potentially amenable to bespoke antisense oligonucleotide (ASO) therapy, and ~2% remained viable after delivery/disease review. Early diagnosis critical: most came too late. bit.ly/3LX0ZBC
Reposted by Genetics in Medicine
ApplyPolygenicScore, a new R package, streamlines polygenic score calculation and visualization to empower broader use of genetic risk models beyond statistical genetics. bit.ly/47C1UQA #GIMO #PolygenicRiskModel #PolygenicRiskScore #Cancer #BodyMassIndex
November 11, 2025 at 10:35 PM
ApplyPolygenicScore, a new R package, streamlines polygenic score calculation and visualization to empower broader use of genetic risk models beyond statistical genetics. bit.ly/47C1UQA #GIMO #PolygenicRiskModel #PolygenicRiskScore #Cancer #BodyMassIndex
Proactive laboratory-initiated #reanalysis of #exomesequencing (ES) can further reduce diagnostic #disparities, ensuring equitable access to genetic insights across ancestry groups. bit.ly/498hch5
November 10, 2025 at 9:54 PM
Proactive laboratory-initiated #reanalysis of #exomesequencing (ES) can further reduce diagnostic #disparities, ensuring equitable access to genetic insights across ancestry groups. bit.ly/498hch5
Reposted by Genetics in Medicine
📢 Call for Papers – Genetics in Medicine Open special issue on Challenges and Advancements in Newborn Screening. Share your research to shape the future of newborn screening. Info here 👉 bit.ly/47sjnvc #Genetics #NewbornScreening #CallForPapers
November 8, 2025 at 12:44 AM
📢 Call for Papers – Genetics in Medicine Open special issue on Challenges and Advancements in Newborn Screening. Share your research to shape the future of newborn screening. Info here 👉 bit.ly/47sjnvc #Genetics #NewbornScreening #CallForPapers
Is reduction in biomarkers enough? Venglustat treatment in adults with late-onset GM2 gangliosidosis reduces GM2 in CSF but did not show improvement in the clinical endpoints assessed bit.ly/43jwSuh #raredisease #taysachs
November 7, 2025 at 4:59 PM
Is reduction in biomarkers enough? Venglustat treatment in adults with late-onset GM2 gangliosidosis reduces GM2 in CSF but did not show improvement in the clinical endpoints assessed bit.ly/43jwSuh #raredisease #taysachs
Reposted by Genetics in Medicine
What does #VUS mean to prenatal diagnostic testing? Study shows that children with a prenatal VUS diagnosis have similar developmental and health outcomes and family well-beings to those without. bit.ly/3WKRAPV #GIMO #ChromosomalMicroarrayAnalysis #PaediatricPopulation
November 6, 2025 at 9:05 PM
What does #VUS mean to prenatal diagnostic testing? Study shows that children with a prenatal VUS diagnosis have similar developmental and health outcomes and family well-beings to those without. bit.ly/3WKRAPV #GIMO #ChromosomalMicroarrayAnalysis #PaediatricPopulation
Reposted by Genetics in Medicine
#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy
November 5, 2025 at 9:21 PM
#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy
Reposted by Genetics in Medicine
Vosoritide not only boosts growth in children with achondroplasia but also improves craniofacial features, showing broader therapeutic potential beyond height alone. bit.ly/4nBUuBi #GIMO #Achondroplasia #FacialImaging #GeometricMorphometrics #3D
November 4, 2025 at 10:47 PM
Vosoritide not only boosts growth in children with achondroplasia but also improves craniofacial features, showing broader therapeutic potential beyond height alone. bit.ly/4nBUuBi #GIMO #Achondroplasia #FacialImaging #GeometricMorphometrics #3D
Second-tier (Cr/Crn)/GAA ratio improves PPV of #PompeDisease #NewbornScreening but can it predict disease onset? bit.ly/47nZlBy
November 3, 2025 at 10:54 PM
Second-tier (Cr/Crn)/GAA ratio improves PPV of #PompeDisease #NewbornScreening but can it predict disease onset? bit.ly/47nZlBy
Reporting #secondaryfindings (SFs) in prenatal diagnosis has proven clinical utility—supporting pregnancy decision-making, informing parents of potential health risks, and enabling proactive reproductive planning! bit.ly/4hA20vb #PrenatalDiagnosis #PrecisionHealth
October 31, 2025 at 7:42 PM
Reporting #secondaryfindings (SFs) in prenatal diagnosis has proven clinical utility—supporting pregnancy decision-making, informing parents of potential health risks, and enabling proactive reproductive planning! bit.ly/4hA20vb #PrenatalDiagnosis #PrecisionHealth
Datasets from #gnomAD and #AllofUs are exponentially larger than previous resources. Leveraging these datasets is poised to significantly decrease the number of #VUS reported in highly penetrant, pediatric-onset diseases. #RareDisease #PrecisionMedicine bit.ly/3X4N9zu
October 30, 2025 at 10:05 PM
Datasets from #gnomAD and #AllofUs are exponentially larger than previous resources. Leveraging these datasets is poised to significantly decrease the number of #VUS reported in highly penetrant, pediatric-onset diseases. #RareDisease #PrecisionMedicine bit.ly/3X4N9zu
What’s new in #OphthalmoGenetics? A recurrent missense variant in PPIB causes adult-onset dominant optic atrophy bit.ly/3X0sJaL #blindness #mitochondrial
October 29, 2025 at 6:13 PM
What’s new in #OphthalmoGenetics? A recurrent missense variant in PPIB causes adult-onset dominant optic atrophy bit.ly/3X0sJaL #blindness #mitochondrial
The power of #MachineLearning for ACMG/AMP PM1 criterion: HCSeeker can identify hot spots and cold spots in 889 genes bit.ly/3JrQFRe #genome #exome
October 28, 2025 at 5:37 PM
The power of #MachineLearning for ACMG/AMP PM1 criterion: HCSeeker can identify hot spots and cold spots in 889 genes bit.ly/3JrQFRe #genome #exome
Reposted by Genetics in Medicine
At ACMG 2023, a powerful plenary spotlighted the "#minoritytax" in medical genetics - prompting self-reflection, peer advocacy, and calls to transform this burden into "#minoritycapital." bit.ly/4hBErlN #GIMO #Diversity #DEI #UnderrepresentedInMedicine
October 24, 2025 at 10:09 PM
At ACMG 2023, a powerful plenary spotlighted the "#minoritytax" in medical genetics - prompting self-reflection, peer advocacy, and calls to transform this burden into "#minoritycapital." bit.ly/4hBErlN #GIMO #Diversity #DEI #UnderrepresentedInMedicine
Twenty years of ERT! Long-term outcomes of 11 adults with infantile-onset Pompe disease treated with ERT bit.ly/4qHftWv
October 23, 2025 at 5:08 PM
Twenty years of ERT! Long-term outcomes of 11 adults with infantile-onset Pompe disease treated with ERT bit.ly/4qHftWv
In Friedreich ataxia, type and position of interruptions in FXN GAA repeats defines three onset groups (< 15, 15-34, > 34 years), and multiple interruptions near the 3′ end can halt expansion ⛔, refining diagnosis and classification bit.ly/3WjYziv
October 22, 2025 at 8:40 PM
In Friedreich ataxia, type and position of interruptions in FXN GAA repeats defines three onset groups (< 15, 15-34, > 34 years), and multiple interruptions near the 3′ end can halt expansion ⛔, refining diagnosis and classification bit.ly/3WjYziv
🌎First international standard outcome set for liver GSD published. 72 stakeholders from 25 countries identified 14 key health outcomes including quality of life, metabolic control & treatment adherence. Major step forward for patient-centered care. bit.ly/4hwPm03
October 21, 2025 at 10:16 PM
🌎First international standard outcome set for liver GSD published. 72 stakeholders from 25 countries identified 14 key health outcomes including quality of life, metabolic control & treatment adherence. Major step forward for patient-centered care. bit.ly/4hwPm03
GOT2 deficiency causes progressive neurodevelopmental disorder with epilepsy, microcephaly & white matter abnormalities. Low aspartate & high G3P are biomarkers. Serine/pyridoxine helped control seizures in 86%. Pyruvate enables metabolic rescue. 🧠🧬 bit.ly/4nd90iQ
October 20, 2025 at 9:46 PM
GOT2 deficiency causes progressive neurodevelopmental disorder with epilepsy, microcephaly & white matter abnormalities. Low aspartate & high G3P are biomarkers. Serine/pyridoxine helped control seizures in 86%. Pyruvate enables metabolic rescue. 🧠🧬 bit.ly/4nd90iQ
Reposted by Genetics in Medicine
Among Amish carriers of a #LongQTSyndrome founder variant, return of results was well received, but beta-blocker use was low, highlighting gaps in cascade testing and treatment uptake. bit.ly/3JedYOt #GIMO #KCNQ1 #OldOrderAmish #ReturnOfResults #CascadeScreening
October 17, 2025 at 7:16 PM
Among Amish carriers of a #LongQTSyndrome founder variant, return of results was well received, but beta-blocker use was low, highlighting gaps in cascade testing and treatment uptake. bit.ly/3JedYOt #GIMO #KCNQ1 #OldOrderAmish #ReturnOfResults #CascadeScreening