November 2026 - Medical Genetics

Original conceptual illustration: Three parts of a thalassemia assessment

Beta thalassemia: understanding blood tests, genetic findings and severity

November 5, 2026 Medical Genetics editorial team Comments Off

Beta thalassemia affects hemoglobin production. Blood tests, genetic findings and clinical assessment explain different parts of the condition—and no single label predicts every outcome.

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Gene therapy trial results: who was studied, how much benefit, and how long it lasted

How to Read Gene Therapy Trial Results: A Step-by-Step Guide

November 5, 2026 Medical Genetics editorial team Comments Off

Learn to interpret gene therapy trial results: response rates, endpoints, confidence intervals, safety and durability—with diagrams, real trials and a checklist.

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Original conceptual illustration: Several dimensions of tuberous sclerosis complex

Tuberous sclerosis complex: define the phenotype beyond the gene

November 5, 2026 Medical Genetics editorial team Comments Off

TSC1 and TSC2 connect growth regulation with a highly variable disorder. Research interpretation requires clear diagnostic criteria, age-aware phenotyping and outcomes that reflect more than tumor size.

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Original conceptual illustration: Gitelman syndrome: transport, inheritance and variation

Gitelman syndrome: interpreting salt transport and family patterns

November 4, 2026 Medical Genetics editorial team Comments Off

Gitelman syndrome connects impaired kidney salt transport with variable symptoms. Researchers must distinguish molecular mechanisms, inheritance evidence and individual clinical outcomes.

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Original conceptual illustration: Collagen IV across three organs

Alport syndrome: interpreting collagen IV findings in kidney care

November 4, 2026 Medical Genetics editorial team Comments Off

Persistent hematuria can be a clue to inherited collagen IV disease. The gene, inheritance pattern and clinical findings determine what an Alport syndrome result means.

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Original conceptual illustration: Three characteristic sites in MEN1

MEN1: recognising an endocrine tumor syndrome across specialties

November 3, 2026 Medical Genetics editorial team Comments Off

Multiple endocrine neoplasia type 1 can connect apparently separate endocrine findings. Clinical assessment, genetic testing and continuing surveillance each answer different questions.

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Original conceptual illustration: Interpreting ATM findings

Ataxia-telangiectasia: understanding the different meanings of an ATM result

November 3, 2026 Medical Genetics editorial team Comments Off

Ataxia-telangiectasia affects movement, immunity and cancer risk. Understanding whether one or both ATM gene copies are affected is essential to interpreting a genetic result.

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Original conceptual illustration: Three parts of an AIP assessment

Acute intermittent porphyria: why chemical tests matter alongside DNA

November 2, 2026 Medical Genetics editorial team Comments Off

Acute intermittent porphyria affects heme production. Chemical testing helps investigate an attack, while genetic testing identifies inherited susceptibility and informs family assessment.

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Original conceptual illustration: SMN1 and SMN2: distinct roles in SMA

Spinal muscular atrophy: interpreting SMN2 as a disease modifier

November 2, 2026 Medical Genetics editorial team Comments Off

SMN2 copy number helps explain variation in SMN1-related spinal muscular atrophy. Researchers must distinguish that association from diagnosis, individual prognosis and treatment response.

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Original conceptual illustration: DM1 requires a multisystem view

Myotonic dystrophy type 1: look beyond muscle weakness

November 1, 2026 Medical Genetics editorial team Comments Off

A DMPK repeat expansion establishes the genetic diagnosis, but muscle findings alone cannot define the clinical burden. Cardiac, respiratory and family assessments remain central.

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