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Many genetic disorders begin in the womb and are caused by abnormalities in a person’s DNA present from conception, during fetal development in the uterus. New technologies now allow doctors to diagnose serious genetic conditions before birth, enabling earlier and more targeted interventions that can prevent irreversible organ damage. Several real-world examples demonstrate the promise of this approach. Prenatal treatment of spinal muscular atrophy has shown encouraging outcomes, and enzyme replacement therapy has successfully been used to treat infantile-onset Pompe disease before birth. However, regulatory, ethical, and clinical trial challenges have slowed progress. With the development of new safety frameworks and improvements in non-invasive prenatal diagnostics, fetal medicine may soon redefine how rare genetic disorders are diagnosed and treated, potentially shifting intervention to the earliest stages of life. At gMendel®, we believe early detection will become the clinical norm, because earlier treatment improves outcomes, reduces healthcare costs, and, most importantly, saves lives. 👉 https://lnkd.in/du9YsGBr #Fetaltherapies #Prenatalcare #SpinalMuscularAtrophy #Pompedisease #NewbornScreening #HealthTech #Genomics #Genetics #RareDiseases #geneticdisorders #screening #diagnostics #healthcare #innovation #Growth #AI #artificialintelligence #machinelearning #VC #venturecapital Christopher Porada Graça Almeida-Porada Anna David

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