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Genetics essentials
The language of DNA, genes, chromosomes and inheritance.
MAKING SENSE OF RESULTS
Testing & counselling
Understand genetic tests, their possibilities and their limits.
THE SCIENCE IN CONTEXT
Research & discovery
Explore methods, emerging technologies and the evidence behind discovery.
PEOPLE & FAMILIES
Family & rare conditions
Pregnancy, childhood, inherited conditions and the diagnostic journey.
RISK & UNDERSTANDING
Cancer genetics
Inherited predisposition, tumour testing and the questions that connect them.
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Clinical practice
Phenotypes, variants and genomic analysis for health professionals.
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News and studies from original sources. Follow the headline for the full context.
Muscle Strength and Outcome Measures for Upper Limb Function in Adults With Myotonic Dystrophy Type 1: A Cross-Sectional Study.
Beyond the Lungs: Social and Parental Factors Associated With Exercise Capacity and Respiratory Muscle Strength in Children With Cystic Fibrosis.
Adapting an Interprofessional Medication Adherence Program for Gout (IMAP-Gout): A Theory-Informed Pre-Implementation Analysis Using the Theoretical Domains Framework (TDF).
Taking on the RAS Challenge
Gandouling alleviates Wilson disease-associated hepatic fibrosis through inhibiting DNA methyltransferase 3 alpha/dynamin-related protein 1 mediated mitochondrial fission.
Microbiome-Immune Crosstalk in Inflammatory Skin Diseases: Mechanisms and Therapeutic Potential of Probiotics.
Depicting External Crown Resorption in Syndromic Amelogenesis Imperfecta Associated With Junctional Epidermolysis Bullosa.
Could Functional Precision Medicine Be the New Precision Oncology?
Medical Genetics explains
The library →Knowledge that connects
Myotonic dystrophy type 1: look beyond muscle weakness
A DMPK repeat expansion establishes the genetic diagnosis, but muscle findings alone cannot define the clinical burden. Cardiac, respiratory and family assessments remain central.
Hereditary transthyretin amyloidosis: connect the genetic result to organ disease
A TTR variant, amyloid deposits and organ dysfunction answer different clinical questions. Interpreting them together helps distinguish inherited susceptibility from established disease.
GJB2-related hearing loss: why the exact genetic finding matters
GJB2 is an important hearing-loss gene, but different variants can have different effects. Understanding the result requires attention to inheritance, hearing assessments and uncertainty.
Marfan syndrome: connecting FBN1 findings with lifelong assessment
Marfan syndrome can affect the aorta, eyes and skeleton. Genetic testing helps clarify the diagnosis, while clinical assessment and monitoring establish what care is needed.
Amelogenesis imperfecta and junctional EB: interpreting a dental phenotype
Inherited enamel defects can occur alone or within a wider condition. Junctional epidermolysis bullosa illustrates how researchers should separate a shared phenotype from evidence about a specific complication.
DICER1 tumor predisposition: define the outcome before estimating risk
DICER1 links RNA processing to a distinctive tumor spectrum. For researchers, meaningful risk estimates depend on age, recruitment and whether an outcome includes benign growths.
Testing & counselling
More in this subject →Cascade testing: turn a familial variant into a clear testing question
Testing relatives for a known pathogenic variant can clarify inherited risk. The original report, family context and follow-up plan determine how useful the result becomes.
Secondary findings: make the consent conversation match the analysis
Discuss scope, choice and follow-up before sequencing uncovers a medically actionable result unrelated to the original question.
What a genetic test can miss: analytical sensitivity in context
A test can accurately detect the changes it was designed to find while missing others. Scope, coverage and sample choice help explain what a negative result means.
Research & discovery
More in this subject →Polygenic scores in clinic: prediction requires calibration and context
A high percentile is not an absolute risk, and strong association does not establish that using a score improves care.
Long-read sequencing: match the technology to the unresolved mechanism
Longer molecules can clarify structural variation and difficult regions, but analytical validation and study design still determine diagnostic value.
Single-cell genomics: more cells do not replace more participants
Cell atlases reveal biological heterogeneity, but meaningful disease comparisons require sound sampling, batch handling and independent replication.
Cancer genetics
More in this subject →DICER1 tumor predisposition: define the outcome before estimating risk
DICER1 links RNA processing to a distinctive tumor spectrum. For researchers, meaningful risk estimates depend on age, recruitment and whether an outcome includes benign growths.
KRAS G12C: how a specific variant opened a drug-discovery route
An October 2026 NCI retrospective revisits RAS drug discovery. The foundational KRAS G12C study shows why molecular selectivity and clinical benefit require different evidence.
Functional precision oncology: testing cells, then testing clinical value
An NCI research agenda highlights living-cell drug testing alongside genomics. A pediatric feasibility study shows why useful laboratory results still require stronger clinical evidence.
Clinical practice
More in this subject →Myotonic dystrophy type 1: look beyond muscle weakness
A DMPK repeat expansion establishes the genetic diagnosis, but muscle findings alone cannot define the clinical burden. Cardiac, respiratory and family assessments remain central.
Hereditary transthyretin amyloidosis: connect the genetic result to organ disease
A TTR variant, amyloid deposits and organ dysfunction answer different clinical questions. Interpreting them together helps distinguish inherited susceptibility from established disease.
Fabry disease in females: why enzyme activity alone can mislead
Females with Fabry disease can develop substantial organ involvement. Biochemical testing, genetic analysis and clinical assessment provide different information, and enzyme activity alone can miss the diagnosis.
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