NeuroPsyBiT-BD Omics: Genomic & Epigenomic Biobank of Bipolar Disorder

This project, NeuroPsyBiT-BD-001: Genomic & Epigenomic Biobank of Bipolar Disorder, is an observational patient registry designed to establish a large-scale biobank and standardized phenotypic data platform for individuals with bipolar disorder in Türkiye.

Objectives and Rationale:

Bipolar disorder (BD) is a chronic and heterogeneous psychiatric condition with high morbidity, relapse rates, and unmet clinical needs. Genetic and epigenetic factors are believed to play a central role in its pathogenesis, yet reliable biomarkers remain scarce. By combining deeply phenotyped clinical data with biological samples, this registry seeks to create a robust foundation for genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS). This approach will enable future biomarker discovery, stratification of subtypes, and exploration of treatment response predictors.

Study Design:

Population: Patients diagnosed with bipolar disorder according to DSM-5 criteria will be recruited through the NeuroPsyBiT consortium, a partnership between the Research and Treatment Society of Genetic Disorders (RTSGD) and the Department of Psychiatry at Selçuk University Medical Faculty.

Sample Size: The initial target is 500 patients in the first phase, with an expansion goal of ≥1,000 patients within one year.

Data Collection: Phenotypic and clinical data (>250 variables) will be systematically recorded using the NeuroCybe Data Collector, a proprietary software platform developed for standardized psychiatric data capture. Domains include demographics, medical/psychiatric history, clinical course, comorbidities, lifestyle/exposome, treatments, and psychometric assessments.

Biospecimen Collection: Blood samples (EDTA tubes) will be collected for DNA extraction, genotyping, and future methylation profiling. Samples will be processed and stored under ISO-compliant biobanking standards, ensuring traceability and long-term integrity.

Infrastructure and Data Security:

Biobank Management: RTSGD laboratories will serve as the central biobank facility, operating under internationally recognized quality standards for sample processing and storage.

Data Governance: All phenotypic and genotypic data will be securely stored on RTSGD on-premise servers with no cloud storage permitted.

Ethics & Privacy: Data handling will strictly comply with national (KVKK) and international (GDPR) regulations. Personally identifiable information will be de-identified. Data access will only be granted following approval by both institutional ethics committees and the Turkish Ministry of Health.

Future Access: De-identified datasets and biospecimens will be made available for national and international collaboration upon direct application to the consortium, subject to ethical approvals.

Scientific Impact:

This registry represents the first large-scale, ISO-standardized biobank for bipolar disorder in Türkiye. By unifying deep phenotyping with genomic and epigenomic resources, it will:

Enable high-resolution GWAS and EWAS in BD.

Provide a resource for cross-cohort meta-analysis and replication studies.

Facilitate translational research toward precision psychiatry approaches (diagnostic tools, risk stratification, and individualized treatment).

Create a sustainable national and international platform for collaboration in psychiatric genetics and epigenetics.

Long-term Vision:

The NeuroPsyBiT-BD registry is designed as a scalable infrastructure. In its initial phases, it will serve national research priorities; over time, it will expand to international collaborations, training opportunities, and joint projects. By combining phenotypic richness with state-of-the-art genomic technologies, the registry will contribute significantly to global efforts aimed at unraveling the biological basis of bipolar disorder.

Inclusion criteria

(Bipolar Disorder Cohort):

• Age 18-65 years.
• DSM-5 diagnosis of Bipolar I, II and NOS confirmed by SCID-5.
• Able to provide written informed consent.
• Willing to complete standardized phenotyping (e.g., YMRS, HDRS-17, FAST/WHODAS) and to provide biospecimens (minimum: whole blood in EDTA; optional: serum, plasma, PAXgene-RNA, cfDNA tubes).
• Stable psychotropic regimen for ≥14 days prior to sampling or drug-free for ≥14 days.

Inclusion criteria

(Control Cohort):

• Age 18-65 years.
• No lifetime DSM-5 psychiatric disorder (including bipolar and schizophrenia spectrum and others) by SCID-5.
• No first-degree family history of major psychiatric disorder (including bipolar and schizophrenia spectrum).
• Able to provide informed consent and blood samples for biobanking.
• No current psychotropic medication.

Exclusion criteria

(applies to both cohorts):

• Presence of neurological disorders (e.g., epilepsy, multiple sclerosis, Parkinson's disease).
• Severe, uncontrolled medical illness that could affect participation or biological measures (e.g., decompensated cardiac, renal, hepatic, or endocrine disease).
• Active infection or fever within 14 days; systemic corticosteroids or immunomodulators within 30 days; vaccination within 14 days.
• Blood transfusion within 3 months or blood donation within 2 weeks prior to sampling.
• Current substance use disorder.
• Pregnancy or breastfeeding at enrollment.
• Inability to comply with procedures or lack of capacity to consent (e.g., significant cognitive impairment, severe language barrier), or acute mania/psychosis requiring immediate hospitalization.