Pulmonology
Autosomal Recessive
Cystic Fibrosis
CFTR variant spectrum, CFTR modulator eligibility, and care models across 90+ registries.
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Directory
Rare Disease Knowledge Hub
Browse an expanding library of rare genetic disorders with curated genomic markers, clinical pearls, and links to in-depth dossiers. Use filters to focus by specialty or inheritance pattern.
Metabolics
Autosomal Recessive
Gaucher Disease
GBA1 variants, enzyme replacement therapy access, and health equity initiatives.
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Neurology
Autosomal Dominant
Huntington Disease
HTT CAG repeat analytics, gene-silencing trials, and integrated care strategies.
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Immunology
X-linked
Wiskott-Aldrich Syndrome
WAS gene variants, hematopoietic stem cell transplant outcomes, and gene therapy prospects.
Deep dive coming soon
Cardiogenetics
Autosomal Dominant
Long QT Syndrome
Ion channel gene variants, pharmacogenomic alerts, and tele-cardiology protocols.
Deep dive coming soon
Endocrinology
Autosomal Recessive
Congenital Adrenal Hyperplasia
21-hydroxylase deficiency newborn screening, steroid management, and fertility care.
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