🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

#Educationalvideos boosted satisfaction in HBOC genetic visits but may hinder outcomes in complex syndromic cases-highlighting the need for personalized patient communication. bit.ly/45u4uaH #GIMO #GeneticConsultation #PatientSatisfaction #PhysicianPatientInteraction

Pegtibatinase enzyme replacement therapy substantially reduces total plasma homocysteine in classical homocystinuria #raredisease #therapeutics bit.ly/4ealBAD

Genetic analysis of Bangladeshi Rett Syndrome cases reveals an 85% diagnostic yield and highlights new genes tied to atypical and RTT-like #neurodevelopmentaldisorders. bit.ly/40e2wYl #GIMO #RettSyndrome #GenomeArcHorizon #TargetedSequencing #ExomeSequencing

PKU patients: When should you reduce pegvaliase dose or liberalize dietary Phe intake? Timing is everything! bit.ly/3ZLDhMW

Researchers studying undiagnosed patients face a sustainability crisis. They want to keep searching for answers but lack funding & infrastructure. A call for diversified funding, centralized data, & leadership. bit.ly/4k39N4x Meghan Halley

New study in UDN cohort reveals that using a genotype-first approach with bioinformatics tools can identify rare repeat expansion disorders, solving complex cases and revealing new disease loci. bit.ly/3G70qCU

Germline BRCA testing in localized prostate cancer isn't cost-effective in patients alone but becomes cost-effective with cascade testing of first-degree relatives. Family testing is 🔑. bit.ly/3T9qK2f

The 2023 U.S. medical genetics workforce study shows 85% women, 76% White, with over a third experiencing burnout. There is an urgent need to expand and diversify the field! bit.ly/46f1DCI @nccrcg

Clinical implementation of genetic testing in children with neurodevelopmental disabilities is low among those enrolled in Medicaid bit.ly/3ZV8DRs #Autismspectrumdisorder #genetictesting #healthcareaccess Tashalee Brown, MD, PhD

Lessons learned from negative results: No genetic causes found from a large cohort (N=149) of cases w/sporadic #MoebiusSyndrome, suggesting roles for environmental factors, somatic variants, or complex inheritance. bit.ly/4jYDsLS #GIMO #CongenitalFacialWeakness

Communication is key. Study highlights the importance of having risk communication strategies that consider the specific emotional needs of individuals. bit.ly/45NG2kJ #Breastcancerscreening #Polygenicriskscore #riskcommunication

Genomics laboratory-driven proactive #reanalysis effectively provides more diagnostic #reclassifications compared to clinician-initiated reanalysis bit.ly/45SKL4H #exomesequencing

More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. bit.ly/3IhIN48 #Marfansyndrome alistair pagnamenta Suresh Somarathi Ian Berry Siddharth Banka James Fasham Diana Baralle Exeter Rare Disease Genomics England

Study using All of Us data reveals major sociodemographic gaps in family health history access and EHR capture - risking wider health inequities in cancer and diabetes care. bit.ly/4eEDqb1 #GIMO #BreastCancer #ColorectalCancer #Diabetes #ElectronicHealthRecords

The challenges of #precisionmedicine. Study reveals ~50% of the genetic variants reported in diverse adult genetic practices are of uncertain clinical significance. bit.ly/46wJZdI #VUS #genomicmedicine

More options for treating individuals with MPS II? Idursulfase beta is safe and effective for the management of #HunterSyndrome bit.ly/4kt5pM7 #Mucopolysaccharidosis

Join us on Wednesday, July 30th for a free webinar, "Advancing platform genomic therapies for inborn errors of metabolism” with speaker Rebecca Ahrens-Nicklas, MD, PhD. Register now at this link: bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing

Bridging the gaps in clinical genetics services. A generalizable framework for #clinical #genetic #testing that can be organized based on testing needs, clinician expertise, and resources. bit.ly/3THineq #servicedeliverymodels Michael Mackley

Staying one step ahead. Identifying patients with #PHTS before or at first primary cancer diagnosis can enable #early #detection of second primary #cancer. bit.ly/4eUSVfg NicolineHoogerbrugge

Don’t miss this free, live webinar on July 30: "Advancing platform genomic therapies for inborn errors of metabolism” presented by Genetics in Medicine Register today! bit.ly/4lPNsZv #InbornErrorsofMetabolism #GeneEditing