DNA variant biomarkers for inherited lung disease severity diagnosis
This technology is a genetic testing approach that detects specific SERPINA1 DNA variants and uses their combined pattern to assess and stratify the risk of alpha-1 antitrypsin deficiency severity.
Unmet Need: Genetic markers to accurately stratify COPD severity
In alpha-1 antitrypsin deficiency, disease assessment typically relies on serum alpha-1 antitrypsin (AAT) levels, testing for a limited set of common SERPINA1 alleles, and clinical measures such as spirometry and imaging, yet these approaches often do not predict COPD severity or progression well. Clinically meaningful differences in disease courses remain difficult to explain because uncommon or atypical variants may be missed, and genotype-to-severity relationships are not well defined, limiting reliable genetics-based severity stratification. There is a need for more predictive severity markers to better guide monitoring and treatment decisions and to enable clearer patient stratification in COPD clinical development and care.
The Technology: SERPINA1 variant profiling to predict COPD severity risk
This technology identifies precise DNA sequence variants within the SERPINA1 gene, including previously unreported variants, and evaluates a defined combination of these variants that correlates with the severity of alpha-1 antitrypsin deficiency. Detecting these variants in patient DNA and assessing whether the severity-associated combination is present enables a genetics-based assessment of disease severity to support diagnostic testing, patient stratification, and clinical decision-making.
Applications:
Genetic diagnostic test for alpha-1 antitrypsin deficiency (AATD)
Prediction of disease severity in patients with AATD
Biomarker development for monitoring disease progression in AATD
Clinical decision support for management of inherited lung disease
Research tool for studying genotype–phenotype relationships in AATD
Therapeutics for AATD regarding the specific gene discovered
Advantages:
Detects previously unreported SERPINA1 DNA sequence variants
Links a defined combination of variants to AATD severity
Enables genetics-based severity assessment from patient DNA
Supports improved patient stratification for diagnosis and clinical decisions
Lead Inventor:
Jeanine D’Armiento, M.D., Ph.D.
Related Publications:
Tech Ventures Reference:
IR CU26261
Licensing Contact: Jerry Kokoshka