Clinical Genetics Primer is an independent, educational reference that explains the genetic basis and clinical features of inherited conditions in plain clinical language. We write for two audiences at once: families who have just heard an unfamiliar genetic term from a clinician, and the clinicians, counselors, and allied professionals who refer patients onward for a closer look.
The site is organized around a small number of condition clusters, each built around a pillar page and a set of supporting pages. We currently cover inherited skin and ectodermal conditions, several well-documented neurogenetic conditions, and the basic inheritance patterns (autosomal dominant, autosomal recessive, X-linked, de novo variants, and genomic imprinting) that explain how these conditions pass through families. A full directory is on our conditions index, and the terms we use throughout are defined on our glossary page.
How we write
Every claim with a number attached to it, a prevalence estimate, an inheritance-risk figure, a gene name, is checked against a current medical reference before it goes on the page. We favor institutional sources such as MedlinePlus Genetics, the NIH Genetic and Rare Diseases Information Center (GARD), NORD, Orphanet, and NCBI/GeneReviews. Where a figure could not be verified, we describe it qualitatively instead of guessing at a number. Our full approach is set out on our editorial standards page.
Clinical Genetics Primer is written and maintained by an editorial team rather than a single named author. We are not a hospital, a clinic, or a diagnostic service, and nothing on this site should be used to diagnose or rule out a condition. See our disclaimer for the full scope of what this site is, and is not, for.
Getting in touch
If you notice an error, an outdated figure, or a broken reference, we want to know about it. Visit our contact page to reach us.