Research Study Participation
Help Others Find Answers Faster
MyOme is conducting a research study to better diagnose rare genetic conditions using long-read whole-genome sequencing (WGS). By Joining, participants can help make genetic testing faster and more accurate for others with rare conditions.
Before contacting our team to participate, make sure you meet the eligibility criteria described below. MyOme is currently conducting research only on the specific conditions listed below.
Ready to enroll in our study or have additional questions?
Eligibility Criteria
You (or your child) are eligible to participate in our research study if you:
- Reside in the United States
- Are able to access and share previous genetic testing results
- Are willing to provide information consent over the phone
- Have a confirmed diagnosis of one of the rare genetic conditions listed in Table 1 or Table 2.
| Gene | Associated Condition(s) |
|---|---|
| ARX | X-linked complex neurodevelopmental disorder; Developmental and epileptic encephalopathy |
| ATXN10 | Spinocerebellar ataxia 10 |
| BEAN1 | Spinocerebellar ataxia 31 |
| CNBP | Myotonic dystrophy 2 |
| CSTB | Unverricht-Lundborg syndrome; Developmental and epileptic encephalopahy |
| DAB1 | Spinocerebellar ataxia 37 |
| FGF14 | GAA-FGF14-Related Ataxia |
| FOXL2 | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| GIPC1 | Oculopharyngodistal myopathy 2 |
| GLS | Glutaminase deficiency with impaired intellectual development and progressive ataxia |
| HOXA13 | Hand-foot-genital syndrome |
| HOXD13 | Hand-foot-genital syndrome |
| MARCHF6 | Familial adult myoclonic epilepsy 3 |
| NOP56 | Spinocerebellar ataxia 36 |
| NOTCH2NLC | Neuronal intranuclear inclusion disease |
| NUTM2B-AS1 | Oculopharyngeal myopathy with leukoencephalopathy 1 |
| PHOX2B | Central hypoventilation syndrome |
| PRNP | Creutzfeldt-Jakob Disease |
| RAPGEF2 | Familial adult myoclonic epilepsy 7 |
| RFC1 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome |
| SAMD12 | Familial adult myoclonic epilepsy 1 |
| SOX3 | X-linked pituitary hormone deficiency with or without intellectual developmental disorder |
| STARD7 | Familial adult myoclonic epilepsy 2 |
| TCF4 | Fuchs endothelial corneal dystrophy-3 |
| TNRC6A | Familial adult myoclonic epilepsy 6 |
| VWA1 | Hereditary motor neuropathy |
| XYLT1 | Desbuquois dysplasia-2 |
| ZFHX3 | Spinocerebellar ataxia 4 |
| ZIC2 | Holoprosencephaly 5 |
| Gene(s)/Region | Associated Condition(s) |
|---|---|
| 15q11 region (SNRPN, NDN) | Prader-Willi syndrome / Angelman-like features |
| ARID1B | Coffin-Siris syndrome |
| CHD2 | CHD2-related neurodevelopmental disorder / epilepsy |
| CHD7 | CHARGE syndrome |
| EHMT1 | Kleefstra syndrome |
| GNAS | Pseudohypoparathyroidism / Albright hereditary osteodystrophy |
| KDM6A | Kabuki syndome |
| KMT2D | Kabuki syndrome |
| NSD1 | Sotos syndrome |
| NSD2 | Wolf-Hirschhorn syndrome |
| ZEB2 | Mowat-Wilson syndrome |
Ready to enroll or have additional questions?
If you meet the eligibility criteria above, please contact our clinical team to enroll in the study. A MyOme genetic counselor will reach out to guide you through the next steps and answer any questions. Even if you don't qualify, you can still contact our clinical team— we're happy to provide more information.
