We go deep, not wide.
Every condition we support gets dedicated infrastructure and community-informed features. We'd rather serve a handful of conditions brilliantly than thousands generically.
Don't see your condition? Request itLaunch conditions
These are the conditions we're building with first, in close partnership with their communities. More conditions will follow based on community need and partnership opportunities.
Phelan-McDermid Syndrome
SHANK3 / 22q13.3
Phelan-McDermid syndrome happens when a child is missing a working copy of the SHANK3 gene at 22q13.3. That can come from a terminal or interstitial deletion, a point variant in SHANK3 itself, a ring chromosome 22, or an unbalanced translocation that disrupts the gene. It mainly affects brain development, so most children have intellectual disability, low muscle tone, and absent or very limited speech, and many also live with seizures, sleep problems, reflux, and kidney or urinary differences. No two children are alike here. Presentation varies widely from child to child, even between children who have the same size deletion.
Commonly tracked
Dravet Syndrome
SCN1A variants
A severe, treatment-resistant epilepsy that begins in the first year of life, most often driven by SCN1A variants. Seizures are frequently triggered by fever and temperature change, alongside developmental and movement challenges.
Commonly tracked
Rett Syndrome
MECP2 mutations
A neurodevelopmental disorder caused by MECP2 mutations that primarily affects girls. After early typical development, children lose purposeful hand use and spoken language, and develop characteristic hand movements.
Commonly tracked
Conditions we're building toward next
After our launch conditions, these are the rare conditions on our roadmap. Each one has a patient foundation we can partner with. Search by condition, gene, or a symptom to find yours.
51 conditions on our roadmap
Spinal Muscular Atrophy
LargeLoss of the SMN1 gene weakens the motor neurons that control movement, so muscles get weaker over time.
Commonly tracked
Duchenne Muscular Dystrophy
LargeA change in the DMD gene means muscles cannot make dystrophin, a protein they need, so muscle weakens over time.
Commonly tracked
Cystic Fibrosis
LargeCFTR changes make mucus thick and sticky, mainly affecting the lungs and digestion.
Commonly tracked
Sickle Cell Disease
LargeA change in the HBB gene makes red blood cells stiff and sickle shaped, which can block blood flow.
Commonly tracked
Huntington's Disease
LargeAn expansion in the HTT gene gradually affects movement, thinking, and mood, usually in adulthood.
Commonly tracked
Amyotrophic Lateral Sclerosis
LargeMotor neurons that control voluntary muscles break down, so movement, speech, and breathing weaken over time.
Commonly tracked
Hemophilia
LargeA missing clotting factor means blood does not clot normally, so bleeding lasts longer.
Commonly tracked
Fragile X Syndrome
EstablishedSilencing of the FMR1 gene affects brain development. It is the most common inherited cause of intellectual disability.
Commonly tracked
Angelman Syndrome
EstablishedLoss of UBE3A function in the brain affects development, movement, and speech.
Commonly tracked
Tuberous Sclerosis Complex
EstablishedChanges in TSC1 or TSC2 lead to benign growths in the brain and other organs.
Commonly tracked
Prader-Willi Syndrome
EstablishedMissing gene activity on chromosome 15 affects appetite, growth, muscle tone, and behavior.
Commonly tracked
Neurofibromatosis Type 1
EstablishedNF1 changes cause tumors to grow along nerves, along with skin and learning differences.
Commonly tracked
Marfan Syndrome
EstablishedFBN1 changes affect connective tissue, including the heart, blood vessels, eyes, and skeleton.
Commonly tracked
Ehlers-Danlos Syndrome
EstablishedDifferences in connective tissue affect the joints, skin, and blood vessels.
Commonly tracked
Friedreich's Ataxia
EstablishedReduced frataxin protein affects the nervous system and heart, causing progressive loss of coordination.
Commonly tracked
Myotonic Dystrophy
EstablishedA repeat expansion affects muscles and other systems, with muscles slow to relax after use.
Commonly tracked
Charcot-Marie-Tooth
EstablishedInherited nerve changes affect the peripheral nerves that control the feet, legs, and hands.
Commonly tracked
Osteogenesis Imperfecta
EstablishedCollagen differences make bones fragile and prone to fracture.
Commonly tracked
Epidermolysis Bullosa
EstablishedFragile skin blisters and tears easily from minor friction.
Commonly tracked
Alpha-1 Antitrypsin Deficiency
EstablishedA protein deficiency can affect the lungs and liver.
Commonly tracked
Gaucher Disease
EstablishedAn enzyme shortage lets fatty material build up in organs like the spleen and liver.
Commonly tracked
Pulmonary Hypertension
EstablishedHigh blood pressure in the lung arteries makes the heart work harder.
Commonly tracked
Phenylketonuria
EstablishedThe body cannot break down phenylalanine, which can build up and affect the brain without dietary management.
Commonly tracked
22q11.2 Deletion Syndrome
EstablishedA small deletion on chromosome 22 can affect the heart, palate, immune system, and development.
Commonly tracked
Williams Syndrome
EstablishedA deletion on chromosome 7 affects the heart and development, often with a very social personality.
Commonly tracked
Achondroplasia
EstablishedThe most common form of short-limbed dwarfism, from an FGFR3 change affecting bone growth.
Commonly tracked
Scleroderma
EstablishedAn autoimmune condition that hardens and tightens the skin and can affect internal organs.
Commonly tracked
Myasthenia Gravis
EstablishedAn autoimmune condition where nerve-to-muscle signals are disrupted, causing weakness that worsens with activity.
Commonly tracked
Usher Syndrome
EstablishedA genetic condition affecting both hearing and vision, and sometimes balance.
Commonly tracked
CDKL5 Deficiency Disorder
EmergingCDKL5 changes cause early, hard-to-control seizures and developmental differences.
Commonly tracked
SYNGAP1-Related Disorder
EmergingSYNGAP1 changes affect brain synapses, leading to developmental delay, epilepsy, and autism traits.
Commonly tracked
Glut1 Deficiency Syndrome
EmergingThe brain cannot get enough glucose for energy, which can cause seizures and movement problems.
Commonly tracked
Cornelia de Lange Syndrome
EmergingA developmental condition affecting growth, limbs, and learning.
Commonly tracked
CHARGE Syndrome
EmergingA pattern of features that can affect the eyes, heart, hearing, and growth.
Commonly tracked
Kabuki Syndrome
EmergingA developmental condition with distinctive features, affecting growth, heart, and immunity.
Commonly tracked
Smith-Magenis Syndrome
EmergingA developmental condition often marked by disrupted sleep and behavior challenges.
Commonly tracked
Cri du Chat Syndrome
EmergingA deletion on chromosome 5 affecting development, often with a high-pitched cry in infancy.
Commonly tracked
Wolf-Hirschhorn Syndrome
EmergingA deletion on chromosome 4 affecting growth, development, and often seizures.
Commonly tracked
Sturge-Weber Syndrome
EmergingA condition with a port-wine birthmark that can also affect the brain and eyes.
Commonly tracked
Aicardi Syndrome
EmergingA rare condition affecting brain structure, usually in girls, with seizures early in life.
Commonly tracked
Batten Disease
EmergingA group of inherited conditions affecting the nervous system, with progressive changes over time.
Commonly tracked
Niemann-Pick Disease
EmergingA lysosomal condition where fatty substances build up in cells, affecting organs and the nervous system.
Commonly tracked
Fabry Disease
EmergingAn enzyme shortage lets a fatty substance build up, affecting the skin, kidneys, and heart.
Commonly tracked
Pompe Disease
EmergingAn enzyme shortage lets glycogen build up in muscles, affecting movement and breathing.
Commonly tracked
Wilson Disease
EmergingCopper builds up in the body, mainly affecting the liver and brain.
Commonly tracked
Alagille Syndrome
EmergingA condition affecting the liver's bile ducts, along with the heart and other systems.
Commonly tracked
Ataxia-Telangiectasia
EmergingA condition affecting coordination and the immune system, with progressive loss of balance.
Commonly tracked
Von Hippel-Lindau
EmergingAn inherited condition that raises the risk of tumors and cysts in several organs.
Commonly tracked
Primary Ciliary Dyskinesia
EmergingTiny hair-like cilia do not move mucus properly, leading to chronic lung and sinus problems.
Commonly tracked
Maple Syrup Urine Disease
EmergingThe body cannot break down certain amino acids, which requires careful dietary management from birth.
Commonly tracked
Galactosemia
EmergingThe body cannot process galactose, a sugar in milk, which requires a galactose-free diet.
Commonly tracked
This roadmap reflects conditions with active patient communities, not a fixed launch order. Foundations, don't see your condition, or want to move it up? Partner with us →
Why we start here
We chose our launch conditions based on three criteria:
Active research pipeline
Conditions with gene therapy trials in progress, where real-time patient data can accelerate treatment development.
Engaged community
Communities we can learn from, so we build what families actually need.
Complex care coordination
Conditions where families manage multiple specialists, medications, and therapies. CareGene adds the most value here.
How we approach new conditions
Adding a condition isn't flipping a switch. We invest deeply in understanding nuances, research landscape, and community needs.
Research infrastructure
For each condition, we go deep on the literature, treatment protocols, and condition-specific terminology so Sage can search and retrieve accurately.
Family-centered tools
Custom symptom tracking aligned with how the condition actually presents, plus automatic clinical-trial eligibility based on genetic markers and medical history.
Community-informed design
We learn from patient communities and advocacy groups so the support we build reflects how families actually live with the condition, not how textbooks describe it.
Request a condition
We prioritize based on community need, data availability, and partnership opportunities.
Foundation or advocacy organization? See our pilot partnership program →