Genetics in Medicine Open
@gimopenjournal.bsky.social
Genetics in Medicine Open, an official journal of @theacmg.bsky.social and companion journal of @GIMJournal.bsky.social
Site use policy: bit.ly/gimconduct.
Site use policy: bit.ly/gimconduct.
Reposted by Genetics in Medicine Open
Should you recommend tyrosine supplementation for YARS1 deficiency? bit.ly/4anW9Y0 #raredisease
February 17, 2026 at 12:43 AM
Should you recommend tyrosine supplementation for YARS1 deficiency? bit.ly/4anW9Y0 #raredisease
Reposted by Genetics in Medicine Open
New research highlights that while pregnancy is typically safe for most with genetic diseases, certain conditions pose higher risks—underscoring the need for tailored counseling and proactive clinical management in prenatal care. bit.ly/4rKRvch
February 14, 2026 at 1:08 AM
New research highlights that while pregnancy is typically safe for most with genetic diseases, certain conditions pose higher risks—underscoring the need for tailored counseling and proactive clinical management in prenatal care. bit.ly/4rKRvch
Reposted by Genetics in Medicine Open
Beyond genome sequencing: RNAseq increases diagnostic yield in neurodevelopmental disorders bit.ly/46KwRRu #Transcriptomics #RNAseq
February 12, 2026 at 4:50 PM
Beyond genome sequencing: RNAseq increases diagnostic yield in neurodevelopmental disorders bit.ly/46KwRRu #Transcriptomics #RNAseq
Reposted by Genetics in Medicine Open
NICU genomics doesn’t end at diagnosis. Families report lasting trauma and the need for longitudinal genetic and mental health support. bit.ly/4rJQHEA
February 11, 2026 at 9:24 PM
NICU genomics doesn’t end at diagnosis. Families report lasting trauma and the need for longitudinal genetic and mental health support. bit.ly/4rJQHEA
Reposted by Genetics in Medicine Open
Ready for prime time. Study shows vosoritide trial results are reproducible and favorable in a real-world setting bit.ly/3ZOedVj #achondroplasia #precisionmedicine #growth
February 11, 2026 at 12:26 AM
Ready for prime time. Study shows vosoritide trial results are reproducible and favorable in a real-world setting bit.ly/3ZOedVj #achondroplasia #precisionmedicine #growth
Reposted by Genetics in Medicine Open
From CNV to single gene: heterozygous OSR2 loss-of-function variants in 6 families define a new cause of radioulnar synostosis. bit.ly/4rHOrhf
February 10, 2026 at 12:23 AM
From CNV to single gene: heterozygous OSR2 loss-of-function variants in 6 families define a new cause of radioulnar synostosis. bit.ly/4rHOrhf
Reposted by Genetics in Medicine Open
For Krabbe NBS, every day counts. In-lab psychosine: ~day 9. Clinical testing: ~day 16. When HSCT must happen by day 30, that week matters ⏰. bit.ly/4a245Ox
February 7, 2026 at 1:51 AM
For Krabbe NBS, every day counts. In-lab psychosine: ~day 9. Clinical testing: ~day 16. When HSCT must happen by day 30, that week matters ⏰. bit.ly/4a245Ox
Reposted by Genetics in Medicine Open
New X-linked NDD gene: GSPT2. Translation defects drive ID, language impairment, autism, and epilepsy via GABA and calcium signaling. bit.ly/4qjdLZG
February 5, 2026 at 11:14 PM
New X-linked NDD gene: GSPT2. Translation defects drive ID, language impairment, autism, and epilepsy via GABA and calcium signaling. bit.ly/4qjdLZG
Reposted by Genetics in Medicine Open
#Equity-focused initiative enabled enrollment of previously underrepresented participants into the #RareGenomesProject (RGP) bit.ly/46hfE1W #raredisease
February 4, 2026 at 10:42 PM
#Equity-focused initiative enabled enrollment of previously underrepresented participants into the #RareGenomesProject (RGP) bit.ly/46hfE1W #raredisease
Reposted by Genetics in Medicine Open
#Scopingreview reveals that workforce shortages, infrastructure limitations, and economic challenges are key barriers to implementing #GenomeWideSequencing (GWS) programs worldwide. bit.ly/45MwpC0 #Geneticservicedelivery #implementation
February 3, 2026 at 9:36 PM
#Scopingreview reveals that workforce shortages, infrastructure limitations, and economic challenges are key barriers to implementing #GenomeWideSequencing (GWS) programs worldwide. bit.ly/45MwpC0 #Geneticservicedelivery #implementation
Genetic counselors support #workplacegenetictesting to expand access but urge limits on employer access to data, highlighting the need for privacy and ethical safeguards in non-clinical testing. bit.ly/4tfJE8h #GIMO #ELSI #DirectToConsumerGeneticTesting
February 3, 2026 at 12:52 AM
Genetic counselors support #workplacegenetictesting to expand access but urge limits on employer access to data, highlighting the need for privacy and ethical safeguards in non-clinical testing. bit.ly/4tfJE8h #GIMO #ELSI #DirectToConsumerGeneticTesting
Reposted by Genetics in Medicine Open
Why aren’t polygenic risk scores in your clinic yet? This review identifies 8 key barriers, with model selection and clinical workflows emerging as major gaps. bit.ly/4thnToL
January 30, 2026 at 11:12 PM
Why aren’t polygenic risk scores in your clinic yet? This review identifies 8 key barriers, with model selection and clinical workflows emerging as major gaps. bit.ly/4thnToL
Reposted by Genetics in Medicine Open
Can genome instability drive regression in NDDs? This study proposes a polygenic DNA damage repair model linking impaired repair to somatic mutation and STR expansion in regressive cases. bit.ly/4k87X3T
January 30, 2026 at 1:35 AM
Can genome instability drive regression in NDDs? This study proposes a polygenic DNA damage repair model linking impaired repair to somatic mutation and STR expansion in regressive cases. bit.ly/4k87X3T
Improving intrafamily communication in #FabryDisease is key to #earlydiagnosis. Expert insights offer strategies to overcome knowledge, emotional, and systemic barriers for better outcomes. bit.ly/49FJHmg #GIMO #FamilyScreening #GeneticCounseling #CommunicationBarriers
January 28, 2026 at 10:32 PM
Improving intrafamily communication in #FabryDisease is key to #earlydiagnosis. Expert insights offer strategies to overcome knowledge, emotional, and systemic barriers for better outcomes. bit.ly/49FJHmg #GIMO #FamilyScreening #GeneticCounseling #CommunicationBarriers
A new genome-based CVD test integrates monogenic, polygenic, and #pharmacogenomic data, offering scalable and comprehensive risk insights with minimal interpretation burden. bit.ly/3NACxaj #GIMO #CardiovascularDisease #GenomeSequencing #PolygenicRisk #MonogenicDisease
January 27, 2026 at 10:11 PM
A new genome-based CVD test integrates monogenic, polygenic, and #pharmacogenomic data, offering scalable and comprehensive risk insights with minimal interpretation burden. bit.ly/3NACxaj #GIMO #CardiovascularDisease #GenomeSequencing #PolygenicRisk #MonogenicDisease
Reposted by Genetics in Medicine Open
Defining actionability in the era of prenatal and newborn genomic screening. bit.ly/4q1Jcs8 #GenomeSequencing #NewbornScreen
January 26, 2026 at 11:32 PM
Defining actionability in the era of prenatal and newborn genomic screening. bit.ly/4q1Jcs8 #GenomeSequencing #NewbornScreen
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
Reposted by Genetics in Medicine Open
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
Reposted by Genetics in Medicine Open
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
Reposted by Genetics in Medicine Open
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
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
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
Reposted by Genetics in Medicine Open
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
Reposted by Genetics in Medicine Open
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
Reposted by Genetics in Medicine Open
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