Resources

Where the trustworthy information lives.

A new genetic diagnosis arrives with a flood of unfamiliar words and no map. This page is the map we would want handed to us: the established public authorities first, then a couple of plain-language guides for reading what you have been given.

None of it replaces your care team. It is here to help you talk with them.

Established authorities

Start with these

Public, non-commercial, and maintained by people whose job this is. We did not write any of them — these are the references our own material cites.

Start here

General rare-disease information, written for patients and families.

Understanding genetics

Plain-language explanations of genes, variants, inheritance and gene therapy.

MedlinePlus Genetics — gene therapy and how it worksMedlinePlus
MedlinePlus Genetics — Help Me Understand GeneticsMedlinePlus
MedlinePlus Genetics — how variants cause health conditionsMedlinePlus
What is a gene variant and how do variants occur?MedlinePlus

Gene and variant databases

The primary references a clinician or genetic counsellor will consult.

CASK — OMIM gene entry (300172)OMIM
CASK gene (Gene ID 8573) — NCBI GeneNCBI Gene
CASK variant interpretations in ClinVarClinVar
ClinVar — public archive of variant interpretationsClinVar
GeneReviews — expert-authored disease summariesGeneReviews
MICPCH — OMIM phenotype entry (300749)OMIM

Trials, research and regulation

Where to look for active studies and for regulatory information.

ClinicalTrials.gov — search trials related to CASKClinicalTrials.gov
National Institute of Neurological Disorders and Stroke (NINDS)NINDS
U.S. Food and Drug Administration (FDA)FDA

External links open in a new tab. We do not control these sites and are not responsible for their content; they are listed because they are the standard references in this field.

Plain-language guides

Written by us, and labelled as such

Two general guides, published openly. Everything else we have written sits behind an account, where it comes with the disclaimers it needs.

Genetics 101 — genes, variants, and inheritance

Genes, DNA, and variants; how variants are named; what pathogenic, VUS, and benign mean; and how a condition is inherited.

Not yet reviewed by a human expert

Resources & support — navigating diagnosis, care, and trials

How to read a genetic report, how to find a clinical geneticist and genetic counselor, what registries and clinical trials are, and a curated set of authoritative resources.

Not yet reviewed by a human expert

Looking for the research itself?

The evidence work — per-paper credibility, mechanism and variant analysis, the research agenda — sits behind an account, and access is for professional and research use.

How the method works Request access

Research aid only — not medical advice. Piper is a research and educational aid. It is not medical advice, not a diagnosis, and not a clinical determination. Its output is hypothesis-generating and may be incomplete, provisional, or wrong, including AI-generated errors. Always consult your own qualified healthcare professional before making any medical or treatment decision.