Protective genetic mutations are a guide from natural experiments of Nature to identify genetically validated therapeutic targets.

For glaucoma, we discovered loss-of-function variants in ANGPTL7 that lower intraocular pressure and protect against glaucoma. Editor’s pick from Science journal.

For Inflammatory Bowel Diseases, we discovered loss-of-function variants in CARD9 and RNF186 that protect against Crohn’s disease and ulcerative colitis.

For cancers, we discovered a missense variant in WNT6 that protects against human cancers.

For chronic kidney disease and its related biomarkers including creatinine and eGFR we discovered genetic variants that lowered Creatinine (improved eGFR) and protected against chronic kidney disease.

These are genetically validated therapeutic hypotheses that will hopefully lead to effective therapies.