Robert Desnick
Dean for Genetics and Genomic Medicine, Elected 2004 (NAM). · Icahn School of Medicine at Mount Sinai
Credentials: · · ·
History
- Present
elected 2004 (NAM). · Icahn School of Medicine at Mount Sinai
Hematology and Medical Oncology
Internal Medicine
Research
New England Journal of Medicine · 2001 · 1,222 citations
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
Science · 1996 · Last of 4 authors · 785 citations
High incidence of later-onset fabry disease revealed by newborn screening
The American Journal of Human Genetics · 2006 · Last of 8 authors · 747 citations
39 papers
- GG
36 papers
31 papers
- CE
28 papers
23 papers
- MM
22 papers
20 papers
18 papers
Grants
- 2025–2029
Oral Ciclopirox Treatment for Congenital Erythropoietic Porphyria.
Food and Drug Administration · R01
Contact PI · $2.6M · Icahn School of Medicine at Mount Sinai
- 2009–2025
National Institute of Diabetes and Digestive and Kidney Diseases · U54
Contact PI · $18.5M · Icahn School of Medicine at Mount Sinai
- 2008–2024
T32 Training Grant in Medical Genetics.
National Institute of General Medical Sciences · T32
Contact PI · $4.3M · Icahn School of Medicine at Mount Sinai
- 2017–2018
Heme Biosynthesis and the Porphyrias: Recent Advances
National Institute of Diabetes and Digestive and Kidney Diseases · R13
Contact PI · $25K · Icahn School of Medicine at Mount Sinai
Clinical trials
- 2022–2029
Identification of Acute Intermittent Porphyria Modifying Genes
Principal investigator · Recruiting
Icahn School of Medicine at Mount Sinai
- 2012–2013
Phase III Confirmatory Study in Erythropoietic Protoporphyria
Principal investigator · Completed · Phase 3
Clinuvel Pharmaceuticals Limited
- 2011–2018
Clinical Diagnosis of Acute Porphyria
Principal investigator · Completed
University of California, San Francisco
- 2010–2011
Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)
Principal investigator · Completed · Phase 2
Clinuvel Pharmaceuticals Limited