213+ patient cell lines across 15 rare disease genotypes. Our core focus is chromosome 15q imprinting disorders — the most underserved category in pediatric rare disease neurology.
Duplication 15q syndrome (Dup15q) results from extra copies of the 15q11-q13 chromosomal region — the most frequent chromosomal cause of autism spectrum disorder. The duplicated region contains several imprinted genes, including UBE3A, which is expressed exclusively from the maternal allele in neurons.
Depending on copy number and origin (maternal isodicentric vs. interstitial duplication), children with Dup15q present with intellectual disability, hypotonia, autism, and treatment-resistant epilepsy. Seizure onset often occurs in the first year of life.
Our DPSC neuronal models demonstrate significant transcriptional differences in Dup15q neurons compared to controls and to Angelman syndrome deletion neurons — revealing disease-specific molecular signatures that are not apparent from genetics alone.
Key reference: Urraca N et al. (2018). Molecular Autism. PMID: 29423132
Angelman syndrome (AS) results from loss of maternally-expressed UBE3A function in neurons. The most common cause is maternal deletion of 15q11-q13 (~65–70%), with the remainder due to paternal uniparental disomy, imprinting defects, or UBE3A point mutations.
Clinically, AS is characterized by severe intellectual disability, absent speech, ataxia, seizures (present in >90%), and a happy, sociable demeanor. It is one of the most severe imprinting disorders, with no approved disease-modifying treatment as of 2026.
The silenced paternal UBE3A allele is an attractive therapeutic target. Our DPSC neuronal platform supports both ASO-based unsilencing strategies (developed by multiple groups targeting the UBE3A antisense transcript) and CRISPR-Cas9 based correction approaches — tested directly in patient-matched neuronal cells.
Our lab also identified PIEZO2 mechanosensory channel dysfunction in an Angelman mouse model, revealing a new molecular phenotype relevant to the sensory abnormalities seen in patients. Nat Commun 2023.
Prader-Willi syndrome (PWS) results from loss of paternally-expressed genes in the 15q11-q13 region — the mirror image of Angelman syndrome. Causes include paternal deletion (~70%), maternal uniparental disomy (UPD, ~25%), and imprinting defects (~3%).
PWS presents with neonatal hypotonia and feeding difficulties, followed by hyperphagia and obesity, intellectual disability, behavioral problems, and in many cases autism spectrum disorder — with UPD cases showing higher rates of ASD than deletion cases.
Our 2021 Frontiers in Molecular Neuroscience paper revealed decreased mitochondrial volume specifically in UPD+ASD PWS neurons, providing a cellular mechanism for increased autism susceptibility in this genotype. Our 2025 HGG Advances paper identified circadian rhythm defects — two distinct period length phenotypes — in PWS DPSC neurons, opening new therapeutic avenues targeting the molecular clock.
Because DPSC come directly from a child's shed baby tooth — collected at home and mailed by parents — we can generate neurons from any individual with any rare neurogenetic variant, anywhere in the world.
This creates a true precision medicine approach: test ASO efficacy in the patient's own genetic background before committing to a clinical approach. Tune drug pharmacology to that patient's specific receptor variants. Validate CRISPR guide RNA efficiency in patient-matched neurons before any human use. Essentially, our cells can fill the pre-clinical gap between mouse models and clinical trials in actual patient neurons.
For ultra-rare diseases affecting only tens or hundreds of patients worldwide, the n=1 model isn't just an aspiration — it's the only viable path to personalized treatment. Our platform makes it practical.
Patient ships shed baby tooth from anywhere in the world
DPSC neurons generated in patient-specific genetic background
ASO, small molecule, or CRISPR validation in that patient's own neurons
| Disorder | Cell Lines |
|---|---|
| Neurotypical Control | 36 |
| Duplication 15q | 36 |
| Prader-Willi Syndrome | 46 |
| Angelman Syndrome | 23 |
| Tuberous Sclerosis | 22 |
| WAGR Syndrome | 10 |
| Smith-Magenis Syndrome | 7 |
| Schaaf-Yang Syndrome | 6 |
| CCHS | 6 |
| 22q Deletion Syndrome | 6 |
| Potocki-Lupski / PTLS | 8 |
| DDX3X Syndrome | 3 |
| USP7 | 2 |
| ATRX Syndrome | 1 |
| Smith-Lemli-Opitz Syndrome | 1 |
| Total | 213+ |
Cell library continues to grow. Contact us to discuss specific genotypes or custom collection arrangements.