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Damara Ortiz

Program Director, Clinical Genetics and Genomics Residency · UPMC Medical Education

Credentials: · · · · ·

History

Clinical Genetics and Genomics Residency · UPMC Medical Education
Present
Clinical Genetics and Genomics Residency · Univ of Pittsburgh Sch of Med
Present
Lysosomal Storage Disorders Program · UPMC Medical Education
Present

Pediatrics
NYU Grossman School of Medicine
2011–2014
Rutgers, Robert Wood Johnson Medical School
2006–2010

Research

IRF2BPL Is Associated with Neurological Phenotypes
The American Journal of Human Genetics · 2018 · 79 citations
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study
Molecular Genetics and Metabolism · 2020 · 64 citations
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III…
Journal of Medical Genetics · 2024 · 42 citations

Dmitriy Niyazov
3 papers · 2 as a resident
IW
Ingrid Wentzensen
3 papers
Suneeta Madan-Khetarpal
3 papers
Svetlana Yatsenko
3 papers
Andrew Dauber
2 papers
AT
Andrew Timberlake
2 papers · 2 as a resident
Anne McRae
2 papers
Can Ficicioglu
2 papers
Carrie Costin
2 papers
KK
Karen Kovak
2 papers
Khan Nedd
2 papers
Kira Dies
2 papers

Clinical trials

A proof-of Concept Study to Assess Safety and Tolerability of HM15421/GC1134A in Patients With Fabry Disease
Site PI · Recruiting · Phase 1, Phase 2
GC Biopharma Corp
2025–2028
Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease
Site PI · Recruiting · Phase 1, Phase 2
UniQure Biopharma B.V.
2024–2031
Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome
Site PI · Available
Takeda
Early Access Program With Arimoclomol in US Patients With NPC
Site PI · Available
ZevraDenmark