{"id":"CU26261","slug":"dna-variant-biomarkers-for--CU26261","source":{"id":"CU26261","dataset":"techtransfer","title":"DNA variant biomarkers for inherited lung disease severity diagnosis","description_":"<p>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. </p>\r \r<h2>Unmet Need: Genetic markers to accurately stratify COPD severity</h2>\r \r<p>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. </p>\r \r<h2>The Technology: SERPINA1 variant profiling to predict COPD severity risk</h2>\r \r<p>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. </p>\r \r<h2>Applications:</h2>\r \r<ul>\r<li><p>Genetic diagnostic test for alpha-1 antitrypsin deficiency (AATD) </p></li>\r<li><p>Prediction of disease severity in patients with AATD </p></li>\r<li><p>Biomarker development for monitoring disease progression in AATD </p></li>\r<li><p>Clinical decision support for management of inherited lung disease </p></li>\r<li><p>Research tool for studying genotype–phenotype relationships in AATD </p></li>\r<li><p>Therapeutics for AATD regarding the specific gene discovered </p></li>\r</ul>\r \r<h2>Advantages:</h2>\r \r<ul>\r<li><p>Detects previously unreported SERPINA1 DNA sequence variants </p></li>\r<li><p>Links a defined combination of variants to AATD severity </p></li>\r<li><p>Enables genetics-based severity assessment from patient DNA </p></li>\r<li><p>Supports improved patient stratification for diagnosis and clinical decisions </p></li>\r</ul>\r \r<h2>Lead Inventor:</h2>\r \r<p><a href=\"https://www.lamlab.org/\">Jeanine D’Armiento, M.D., Ph.D.</a>  </p>\r \r<h2>Related Publications:</h2>\r \r<ul>\r<li><a href=\"https://pubmed.ncbi.nlm.nih.gov/33539438/\">Stearns K, Goldklang M, Xiao R, Zelonina T, Blomenkamp K, Teckman J, D’Armiento JM. “Knockdown of Alpha-1 Antitrypsin with antisense oligonucleotide does not exacerbate smoke induced lung injury”. PLoS One. 2021 Feb 4;16(2):e0246040.</a>  </li>\r</ul>\r \r<h2>Tech Ventures Reference:</h2>\r \r<ul>\r<li><p>IR CU26261 </p></li>\r<li><p>Licensing Contact: <a href=\"mailto:techtransfer@columbia.edu\">Jerry Kokoshka</a>  </p></li>\r</ul>\r","tags":["Allele","Alpha-1 antitrypsin","Biomarker","Chronic obstructive pulmonary disease","Genotype","Lung","Oligonucleotide","SARS-CoV-2 Alpha variant","Spirometry","Stratified sampling"],"file_number":"CU26261","collections":[],"meta_description":"SERPINA1 variant profiling predicts AATD severity via DNA patterns, enabling genetics-based diagnosis, risk stratification, and tailored management.","apriori_judge_output":"{\"scores\":{\"novelty\":4.0,\"potential_impact\":4.0,\"readiness\":2.0,\"scalability\":3.0,\"timeliness\":3.0},\"weighted_score\":3.8,\"risks\":[\"Novelty may rely on specific variant patterns that require broad validation across diverse populations.\",\"Clinical utility and regulatory pathways for genetic diagnostics need clear demonstrations.\",\"Timeliness could be constrained by current adoption of genetics-based severity predictions in standard care.\"],\"one_sentence_take\":\"High novelty and impact with moderate readiness; needs validation, regulatory strategy, and clear clinical utility before scale-up.\"}","inventors":["Jeanine D'Armiento"],"manager":"Jerry Kokoshka","depts":["Medicine"],"divs":["Columbia University Medical Center (CUMC)"],"date_released":"2026-10-30"},"highlight":{},"matched_queries":null,"score":0.0}