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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 21h

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

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Genetics in Medicine Open @gimopenjournal.bsky.social · 4d

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

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 4d

📊 New study quantifies phenotype specificity for FH missense variants in HLRCC. These ultra-rare variants are >200× enriched vs controls, giving powerful evidence to boost PP4 and improve variant classification 🧪🔍 bit.ly/47aElNj

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Genetics in Medicine Open @gimopenjournal.bsky.social · 6d

Analysis of over 2,700 rare disease patients shows that non-recurrent ROH >5 Mb, especially in underrepresented groups, can reveal deleterious homozygous variants, aiding diagnosis. bit.ly/3IMAoq1 #GIMO #Microarray #consanguinity #UniparentalDisomy #RecessiveDisorder

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Genetics in Medicine Open @gimopenjournal.bsky.social · 6d

Despite strong support for #pharmacogenomic testing in pediatric oncology, AYA patients and caregivers voiced concerns over data security and insurance, highlighting the need for inclusive, trust-building approaches. bit.ly/4n2oFkS #GIMO #Pharmacogenetics

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Genetics in Medicine Open @gimopenjournal.bsky.social · 11d

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

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 11d

Systematic review of 18 studies: Alternative genetic counseling by phone, video, or written materials for high-risk breast cancer shows over 80% satisfaction & cost savings compared to in-person. Future work should focus on sustainability & implementation bit.ly/3Wuhgjsgjs

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Genetics in Medicine Open @gimopenjournal.bsky.social · 13d

GUÍA, an English/Spanish bilingual digital tool, boosts satisfaction and understanding of genomic results and offers an equitable model for diverse patient care. bit.ly/4mU9kTC #GIMO #GeneticCounseling #DigitalHealth #DigitalTools #GeneticTesting #GenomicMedicine

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 17d

Peeling back the layers. Study finds #pseudoexons as a mechanism via which deep #intronic #variants cause #Mendeliandisease bit.ly/46VDPT7

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 18d

Not ready for prime time. Health system leaders and primary care providers see limited utility in #PRS results. bit.ly/48dfo62 #clinicianperspectives #implementation

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Genetics in Medicine Open @gimopenjournal.bsky.social · 19d

A new method using #replicationcyclereaction (RCR) to phase heterozygous variants up to 152 kb apart - enabling accurate cis/trans determination in autosomal recessive disease genes. bit.ly/48JUV8Z #GIMO #VariantPhasing #CompoundHeterozygosity

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Genetics in Medicine Open @gimopenjournal.bsky.social · 20d

This study demonstrated enhanced #structuralvariant (SV) detection by #genomesequencing (GS), supporting the utility of GS as the sequencing backbone to detect, characterize, and interpret SVs of cancer predisposition genes bit.ly/3VJwUqX #GIMO #CopyNumberVariant #DRAGEN

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Genetics in Medicine Open @gimopenjournal.bsky.social · 22d

In vitro #fetalenrichment in cfDNA screening slashed #testfailure rates over 10-fold - ensuring timely, reliable results for all pregnancies, including those with high maternal BMI. bit.ly/3KpSVsA #GIMO #PrenatalCellFreeDNAScreening #RealLifeImplementationCohortStudy

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 24d

Could methylation testing help identify fetal alcohol syndrome? bit.ly/46nsQ5Y #FASD #EpiSignature

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Genetics in Medicine Open @gimopenjournal.bsky.social · 25d

New severity scores help non-invasively assess liver disease in pediatric GSD IX, while #liverbiopsy remains key for understanding fibrosis and guiding care. bit.ly/3VB0IpO #GIMO #GlycogenStorageDiseaseTypeIX #LiverDiseaseScoring #LiverFibrosis #LiverDiseaseSeverity

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 27d

With Infantile Krabbe disease now on the RUSP, #NewbornScreening labs use psychosine as second-tier testing to allow for timely detection of Infantile Krabbe disease bit.ly/4nRbaph

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Genetics in Medicine Open @gimopenjournal.bsky.social · 27d

DNA-poli is a digital platform to digitalize the cascade genetic testing process in cardiogenetics. An RCT will test its potential to boost uptake while matching the quality of standard care. bit.ly/46hDdrY #GIMO #DigitalHealth #GeneticCarrierScreening #Cardiomyopathies

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · 28d

Study finds #NF1 is associated with a 2.5% 10‐year risk for #myocardial #infarction at age 50, suggesting that NF1 is a major risk factor for myocardial infarction. bit.ly/42J9jdI #coronaryarterydisease

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · Sep 19

Ending the diagnostic odyssey with a rule-based search algorithm? 'ThinkRare' identifies undiagnosed individuals with rare genetic disorders in an EMR bit.ly/489W3mj #bioinformatics

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · Sep 18

Novel recessive NDD with autism, ID, and spastic paraparesis associated with a founder variant in TBCB with high rate of heterozygosity in the Ashkenazi Jewish population bit.ly/41YZU1B

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · Sep 18

Genome sequencing costs for Indigenous children with #rarediseases match those of others, but bioinformatics costs are higher due to limited database representation. Enhancing diagnostic pathways can help close the genomic gap. bit.ly/42DOssj #Genomics #HealthEquity

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · Sep 16

What's new in #ophthalmogenetics? Rare MIR184 variants are associated with Fuchs endothelial corneal dystrophy bit.ly/46tATgt #microRNA

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · Sep 16

#Genomesequencing (GS) is more expensive than #exomesequencing but offers similar effectiveness. To maximize impact, GS should be reserved for patient groups where it can provide the greatest benefits such as by speeding up time to diagnosis. bit.ly/4mYJFda #raredisease

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · Sep 12

Who is getting BRCA testing? Has testing increased following expanded clinical indications? bit.ly/48dmpn5 #HealthcareUtilization #CancerPredisposition

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Reposted by Genetics in Medicine Open

Genetics in Medicine @gimjournal.bsky.social · Sep 11

De novo XPO1 variants cause a novel autosomal dominant neurodevelopmental disorder bit.ly/4nvs4cQ #Neurogenetics

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