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.
Start here
Two places to begin
Curated directories of other people’s work, arranged for the two moments people most often arrive in.
After a diagnosis
The practical first weeks — reading the genetic report, asking for a genetic counsellor and a care coordinator, finding your disease organisation, and the free guides written for exactly this moment.
CASK gene disorder
The CASK-specific references: the GeneReviews clinical chapter, the plain-language NIH pages, the family organisations, the registries, and where variant interpretations are catalogued.
What we hold evidence on
The genes and conditions our corpus covers — CASK, MECP2, CDKL5, SCN1A, STXBP1, UBE3A and many more — with how many papers and measurements sit behind each, and how thin the tail gets.
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.
Gene and variant databases
The primary references a clinician or genetic counsellor will consult.
Trials, research and regulation
Where to look for active studies and for regulatory information.
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.
AI-generated — may contain mistakes · not expert reviewed
Genetic disorders — how variants cause disease
How variants actually cause disease — loss vs gain of function, dosage and haploinsufficiency, genotype–phenotype, and why ultra-rare conditions are hard to study.
AI-generated — may contain mistakes · not expert reviewed
CASK basics
What the CASK gene does, the spectrum of CASK-related disorders, why girls and boys are affected differently, what is monitored, and an honest picture of where research stands.
AI-generated — may contain mistakes · not expert reviewed
The blood-brain barrier & treatments
The blood-brain barrier, why it gates brain treatments, the main therapy types and how each does or does not cross, and why "works in a dish" is far from "reaches a child's brain."
AI-generated — may contain mistakes · not expert reviewed
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.
AI-generated — may contain mistakes · not expert reviewed
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.
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.
The material on this site is written with the help of AI and may contain mistakes. It describes the state of published knowledge rather than any individual, and every source it rests on is named so you can check it.