Ed Jabbari

New genetic clues to PSP from India! At the IPMDS #MDSCongress? Visit our late-breaking abstract, LBA 3, to explore the PAIR-PSP findings and connect with our team. We are proud to share the first South Asian genome-wide association study (GWAS) of progressive supranuclear palsy (PSP)—bringing an underrepresented population into the search for answers to this devastating disease. 🔬 From discovery to replication Our discovery study included 800 genotyped PSP cases, with 784 analyzed against 3,184 South Asian controls. Six reported loci reached genome-wide significance. We then evaluated the findings in a separate cohort of 200 PSP cases and 200 controls. Two loci showed replication evidence: • CD2AP, chromosome 6 Discovery p=9.9×10⁻¹⁰ | Replication p=0.0071 • PPARGC1A, chromosome 4 Discovery p=3.1×10⁻⁹ | Replication p=0.0033 These findings strengthen the evidence for these associations and support further investigation into tau-related processes, cellular transport and mitochondrial biology in PSP. 🌏 Why ancestry matters The prominent MAPT association reported in European PSP studies was not detected in our Indian cohort. This does not mean MAPT is absent or irrelevant in Indians. Differences in allele frequencies, genetic architecture and statistical power need careful consideration. It raises an important question: what might we learn when more populations are represented in genetic research? For me, PAIR-PSP demonstrates the value of building deeply characterized cohorts in India and connecting them with global scientific collaboration. Discovery followed by replication is an important milestone; understanding how these findings contribute to disease biology is the next step. 🤝 The people behind the findings My sincere thanks to the patients and families who participated, our collaborating clinicians across India, and colleagues at the Parkinson’s Research Alliance of India (PRAI), @MedGenomeLabs and the Global Parkinson’s Genetics Program (GP2 @ASAP_Research ). This is a shared achievement, built on trust, participation and sustained teamwork. Please visit LBA 3—we would welcome your questions, perspectives and opportunities to collaborate. #PSP #GWAS #PAIRPSP #Neurogenetics @movedisorder @curepsp