Icahn School of Medicine at Mount Sinai · GeneticsDesnick Therapeutics Lab
Robert J Desnick · New York, New York
Research Focus
Dr. Robert J. Desnick's lab focuses on developing innovative treatments for rare genetic disorders, particularly Congenital Erythropoietic Porphyria (CEP). They are conducting clinical trials to test an oral medication, ciclopirox olamine, which aims to improve the enzyme activity deficient in patients with CEP. This research could potentially transform the lives of individuals with this challenging condition by alleviating symptoms and improving overall quality of life.
Congenital Erythropoietic PorphyriaUros enzymeclinical trialspharmacologic chaperoneciclopirox olamine
Research Aims
5AIM 01Evaluate the safety of ciclopirox olamine in adults with CEP
AIM 02Assess the efficacy of ciclopirox olamine on hemoglobin levels and anemia
AIM 03Measure improvements in symptoms related to sunlight exposure
AIM 04Determine quality of life changes in treated patients
AIM 05Analyze the impact on pathogenic porphyrin levels in the blood.
Skills the Lab Values
clinical trial designpatient recruitmentdata collectionblood sample analysislaboratory safety protocols
Output against the department
Publications1,267top 2% of dept.5th of 259
this lab
most publishedleast published
Citations46ktop 14% of dept.35th of 259
this lab
most citedleast cited
Career totals from OpenAlex, compared against labs that share a department. A department spans everything from one paper to tens of thousands, so bar heights are on a log scale — otherwise the largest lab would flatten every other bar to a line.