CureGRIN Foundation
Cycle 1
GRI Disorders are rare single-gene disorders related to the GRIA, GRIK, GRID and GRIN genes. Many GRI patients are non-verbal, unable to walk, and many cannot feed or toilet themselves. They often experience severe and frequent seizures that are not responsive to medical therapies.
Last updated 04/30/2025
Clinical
Disease Class
Neurological diseases
Body Systems
Digestive
Hematopoietic / Lymphatic / Immune
Muscular / Skeletal
Nervous / Sensory
Respiratory
Organs
Brain
Ears
Esophagus
Eyes
Intestines
Lungs
Muscles
Spinal cord
Stomach
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
GRIA1
GRIA2
GRIA3
GRIA4
GRID1
GRID2
GRIK2
GRIK5
GRIN1
GRIN2A
GRIN2B
GRIN2C
GRIN2D
GRIN3A
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
X-linked dominant
Newborn Screening
No
Disease Mechanism(s)
Glutamate pathway malfunction
Ion channel dysfunction
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Average Age at Diagnosis
Adolescence (12-17)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Pre-Birth
Affected Sex(es)
Female
Male
National Prevalence
1001-10000
Global Prevalence
10000+
National Incidence
11-50
Global Incidence
11-50
Symptoms / Phenotypes
autism
autistic behavior
behavioral changes
breathing difficulties
constipation
feeding difficulties
hearing loss / hearing impairment
hypotonia
intellectual disability
movement disorders / ataxia / tremor
neurostorming
seizures / epilepsy
sleep disorders
speech problems / apraxia
vision problems
Biomarkers
None
Existing Therapies
Complementary and Alternative treatments
· L-serine
FDA-Approved for Symptom Relief
· Multiple anti-seizure medications for epilepsy. Gabapentin, Clonidine, Propranolol for movement disorders & dysautonomia. Multiple drugs for sleep and GI symptoms.
Off-Label Drug Use
Organizational & Research
Cell Lines
iPSCs
LCLs
Other
Cell Lines, Institution
COMBINEDBrain
Simons Foundation Autism Research Initiative (SFARI)
Cell Lines, Involvement
Consulted
Funded
Own
Cell Lines, share
Some of our cell lines are freely available
Disease Model
Mouse
Disease Model, Involvement
Consulted
Disease Model, share
Unsure
Clinical Trial Role
Focus group
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Study protocol design, review
Biobank, Institution
COMBINEDBrain
Simons Foundation Autism Research Initiative (SFARI)
Biobank, Involvement
Consulted
Funded
Center of Excellence, Institution
Colorado Children's
ENCORE Erasmus MC Sofia Children's Hospital
Center of Excellence, Involvement
Consulted
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Genetic data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
REDCap
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
We have taken formal steps to schedule a meeting
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We are working on obtaining an ICD-10 code
We are working on obtaining an ICD-11 code
We use an ICD-10 code capturing the family of diseases to which our disease belongs
Diagnostic Guidelines
No
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe
Middle East
North America
South America