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Ozlem Goker-Alpan, MD
Founder and CMO of LDRTC

Ozlem Goker-Alpan, MD has over 20 years of experience in the rare diseases field. She is a world-renowned clinician and translational scientist in rare genetic and lysosomal storage disorders, training new generation of physicians and advocacy patient groups. At LDRTC, Dr. Goker-Alpan oversees multiple scientific projects exploring immune pathways and lysosomal functions to develop new diagnostic and monitoring tools in LSDs and GBA-related Parkinsonism.

My Publications

My Work


Publications •

Recent Publications:

Horowitz M, Braunstein H, Zimran A, Revel-Vilk S, Goker-Alpan O. Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease. Adv Drug Deliv Rev. 2022 Aug;187:114402. doi: 10.1016/j.addr.2022.114402. Epub 2022 Jun 25. PMID: 35764179.

Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators. Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. Neurology. 2022 May 26:10.1212/WNL.0000000000200746. doi: 10.1212/WNL.0000000000200746. Epub ahead of print. PMID: 35618441.

Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9. PMID: 35367141.

Elstein D, Belmatoug N, Deegan P, Göker-Alpan Ö, Hughes DA, Schwartz IVD, Weinreb N, Bonner N, Panter C, Fountain D, Lenny A, Longworth L, Miller R, Shah K, Schenk J, Sen R, Zimran A. Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials. Orphanet J Rare Dis. 2022 Jan 6;17(1):9. doi: 10.1186/s13023-021-02163-y. PMID: 34991656; PMCID: PMC8734239.

Kishnani PS, Al-Hertani W, Balwani M, Göker-Alpan Ö, Lau HA, Wasserstein M, Weinreb NJ, Grabowski G. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. Mol Genet Metab. 2022 Feb;135(2):154-162. doi: 10.1016/j.ymgme.2021.12.009. Epub 2021 Dec 22. PMID: 34972655.