UC1 Multi-Modal Data Lake Visualization

Live Demo CHIA Grant POC โ€” Seattle Children's Hospital
๐Ÿ‘ค

Patient SCH-EP-2847

MRN: 847-229-3061 ยท Study Cohort: CHIA-DRV-2024
Age8 yr
SexFemale
DiagnosisDravet Syndrome
Onset14 months
Seizure Freq4-6/month
847
FHIR
47
EEG
12
Scans
3
Variants
Condition FHIR R4
"resourceType": "Condition", "id": "cond-ep-dravet-001", "clinicalStatus": { "coding": [{ "code": "active" }] }, "verificationStatus": "confirmed", "code": { "coding": [{ "system": "http://snomed.info/sct", "code": "230437007", "display": "Dravet syndrome" }] }, "onsetAge": { "value": 14, "unit": "months" }, "severity": "severe"
MedicationRequest FHIR R4
"resourceType": "MedicationRequest", "status": "active", "intent": "order", "medicationCodeableConcept": { "coding": [{ "system": "http://www.nlm.nih.gov/research/umls/rxnorm", "code": "2183126", "display": "Fenfluramine 2.2mg/mL" }] }, "dosageInstruction": [{ "doseQuantity": { "value": 0.35, "unit": "mg/kg/day" } }], "note": "Adjunctive therapy; valproate-based regimen"
Observation FHIR R4
"resourceType": "Observation", "status": "final", "code": { "coding": [{ "system": "http://loinc.org", "code": "11524-6", "display": "EEG study" }] }, "valueString": "Generalized 3-4Hz spike-and-wave; multifocal spikes; photosensitivity present", "effectiveDateTime": "2026-03-14T09:30:00Z"
Encounter FHIR R4
"resourceType": "Encounter", "status": "finished", "class": "inpatient", "type": [{ "coding": [{ "display": "Video-EEG Monitoring" }] }], "period": { "start": "2026-03-12", "end": "2026-03-15" }, "reasonCode": "Seizure characterization; drug-resistant epilepsy evaluation"

๐Ÿ• Encounter Timeline

2019-06-14
First febrile seizure (prolonged, 22 min)
Age 14 months ยท ED visit ยท Status epilepticus protocol initiated
2019-09-02
Genetics referral โ€” SCN1A panel ordered
Dravet syndrome suspected based on clinical phenotype
2019-10-18
Valproate initiated (15 mg/kg/day)
Sodium channel blockers avoided per SCN1A genotype
2022-01-08
Status epilepticus โ€” PICU admission (3 days)
Breakthrough seizure cluster ยท Clobazam added
2024-08-20
Fenfluramine (Fintepla) initiated
Adjunctive therapy ยท 50% seizure reduction at 3-month follow-up
2026-03-12
Video-EEG monitoring (72hr) โ€” current admission
CHIA research protocol ยท Multi-modal data capture

EEG Recording โ€” Generalized Spike-and-Wave with Seizure Event

Background
Interictal Spikes
Ictal Event
Patient Studies
47
This patient (cohort: 35,247)
Dominant Freq
3.2 Hz
Spike-wave complex
Seizure Events
12
Annotated in 72hr recording
Channels
21
10-20 montage + EMG
T1W MPRAGE

Structural MRI โ€” Axial

Sequence3D T1 MPRAGE
Resolution1.0 ร— 1.0 ร— 1.0 mm
Slices176
FindingMild hippocampal asymmetry
BOLD fMRI

Functional MRI โ€” Activation Map

ParadigmResting state
TR / TE2000 / 30 ms
Volumes300
Findingโ†‘ Thalamic connectivity
DTI Tractography

Diffusion Tensor โ€” Fiber Tracts

Directions64
b-value1000 s/mmยฒ
FA (CC)0.42 (โ†“)
FindingReduced CC integrity

๐Ÿ—„๏ธ AWS HealthImaging โ€” DICOM Metadata

(0008,0060)MR
(0008,0070)SIEMENS
(0008,1030)EPILEPSY_PROTOCOL_CHIA
(0010,0020)SCH-EP-2847
(0018,0087)3.0 T
(0018,1030)ep2d_diff_64dir
(0020,000D)1.2.840.113619...
(0028,0010)256 ร— 256
Genomics Data Pipeline
HealthOmics
Sequence Store
FASTQ/CRAM
โ†’
HealthOmics
Workflows
GATK, DeepVariant
โ†’
Glue Variant ETL
VCF โ†’ Iceberg
AWS ref. implementation
โ†’
S3 Table Buckets
Managed Iceberg
Partitioned by sample + chrom
โ†’
Athena
SQL Analytics
Query variants
โš ๏ธ Note: HealthOmics Variant Stores deprecated Nov 2025. Using AWS-recommended migration path: S3 Table Buckets + Glue Variant ETL

๐Ÿงฌ SCN1A Variant โ€” Primary Pathogenic Mutation

GeneSCN1A (Nav1.1)
Chromosome2q24.3
Variantc.4933C>T (p.Arg1645Trp)
TypeMissense (heterozygous)
InheritanceDe novo
Classificationโš  Pathogenic
ClinVar IDVCV000208671
gnomAD Freq0 / 251,354 (absent)
CADD Score34.0 (deleterious)
DomainDIV S4 voltage sensor
SCN1A Gene Structure โ€” Mutation Location
Exon 1 (DI) DII DIII DIV โ† R1645W

๐Ÿ›ก๏ธ ClinVar Annotation

Condition
Dravet syndrome (OMIM #607208)
Review Status
โ˜…โ˜…โ˜…โ˜… Expert panel reviewed
Last Evaluated
2025-11-14
Submitters
GeneDx, Invitae, ClinGen EP
ACMG Criteria
PS2, PM1, PM2, PP3, PP5
Allele Registry
CA127893
Functional Impact

Missense variant in DIV S4 voltage-sensing segment of Nav1.1 sodium channel. Results in loss-of-function of inhibitory interneuron firing, leading to hyperexcitability. Consistent with Dravet syndrome phenotype of temperature-sensitive seizures progressing to drug-resistant epilepsy.

๐Ÿ”€ Patient-Centric Data Linkage

โค๏ธ
Clinical
847 resources
๐Ÿ“Š
EEG
47 studies
SCH-EP-2847
Patient Key
๐Ÿง 
Imaging
12 series
๐Ÿงฌ
Genomics
3 variants
100%
Linkage Rate
<2s
Query Latency
4
Modalities Linked
HIPAA
Compliance Level

โ–ฆ Cross-Modal Join Keys

Source Store Key Field Format Records
Epic EMR HealthLake Patient.identifier[MRN] FHIR R4 JSON 847
Natus EEG S3 (EDF) patient_id in metadata.json EDF+ / Parquet 47
PACS (Siemens) HealthImaging (0010,0020) PatientID DICOM 12
GeneDx Lab S3 Table Buckets sample_id โ†’ MRN map Iceberg (from VCF) 3

Data Pipeline Architecture

๐Ÿฅ
Epic / Natus
Source Systems
โ†’
๐Ÿ”ฅ
HealthLake
FHIR Store
โ†’
๐Ÿงฌ
HealthOmics
Seq Store + Workflows
โ†’
โ—‰
S3 Table Buckets
EEG + Genomics (Iceberg)
โ†’
๐Ÿฉป
HealthImaging
DICOM Store
โ†’
๐Ÿ“Š
Athena
Federated Query
โ†’
๐Ÿง 
SageMaker
ML / Analytics