Genetico · Weekly newsletter
Latest · Edition 083 Oct 202601 · ApprovalsFDA approves the first treatment for MCT8 deficiencyFDA · 28 Sep 202602Clinical and biochemical correction of a patient with neurodegenerative mucopolysaccharidosis IIIA using haematopoietic stem cell gene therapy03Miglustat in neuronopathic lysosomal storage disorders: biological rationale, clinical evidence and limits of repurposing04Management of plexiform neurofibromas in neurofibromatosis type 1: an Italian Delphi consensus05Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: a retrospective cohort study06Cognitive decline over time in myotonic dystrophy type 1: a systematic review of longitudinal studies+ 11 more in this editionRead edition →Rare Insights
Each week we read the new approvals, papers and guidance in rare and genetic diseases, and write a short note on why each one matters. Every edition is archived here.
8 editions98 items indexed56 topics
Archive
Every edition, every paper
Browse by edition, or search the full index of papers we have covered by topic, journal or month.
8 editions
September 2026
Edition07
Lead · Gene therapyFDA approves the first gene therapy for paediatric patients with Sanfilippo syndrome type ANeuromuscularEpigenetic therapyHaemoglobinopathiesIndia policyData sharingNewborn screening
14 itemsRead →
Edition06
Lead · NeurodevelopmentalRett syndrome: MECP2 biology, multisystem pathophysiology and the evolving therapeutic landscapeInborn errors of metabolismGene and cell therapyMulti-omic diagnosticsUndiagnosed diseaseHealth economicsPrenatal genomics
11 itemsRead →
Edition05
Lead · Clinical exome sequencingArtificial intelligence-assisted clinical exome sequencing: insights and outcomes from 822 paediatric diagnosesInborn errors of immunityNeurogeneticsNeuromuscularLysosomal storageHereditary cancerCardiogenetics
12 itemsRead →
Edition04
Lead · Genomic diagnosisDiagnostic sequencing in sick newborns is not newborn screeningNewborn screeningNeurofibromatosisMetabolicVariant interpretationPolicyApprovals
17 itemsRead →
August 2026
Edition03
Lead · MechanismHow far does DMPK have to fall to correct the splicing?Genomic servicesSequencingDiagnosticsClassificationPrenatalMetabolic
11 itemsRead →
Edition02
Lead · RegulatoryFDA approves the first gene therapy for glycogen storage disease type Ia
6 itemsRead →
Edition01
Lead · Secondary findingsThe British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing
10 itemsRead →
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Approvals, papers and guidance in rare and genetic diseases, each with a short note on why it matters. Sent weekly, read in a few minutes.
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