New York Center for Rare Diseases Research

The New York Center for Rare Diseases at Montefiore Einstein is at the forefront of innovation and rare disease research, committed to finding new ways to predict, prevent, diagnose and treat rare conditions. As a National Organization for Rare Disorders (NORD)-designated Rare Disease Center of Excellence, we offer a research-focused, evidence-based approach to care. Our world-renowned physician-scientists and scientists collaborate closely across disciplines and with investigators worldwide, leading research and spearheading numerous studies and clinical trials. This gives our patients access to emerging technologies and innovative treatments and cures that may otherwise be unavailable.

Our research teams are actively conducting basic, translational and clinical research to explore the genetic mechanisms, natural history, epigenomics and population genetics of rare diseases and develop diagnostic and therapeutic solutions for a broad range of rare conditions. From co-developing the clinical guidelines setting the standard of care for acid sphingomyelinase deficiency to spearheading the nation’s largest pilot newborn rare diseases screening study (ScreenPlus), we continue to lead the way in rare disease research. We have also partnered with GeneDx, PacBio and the Genomics team in Google Research to help identify the genetic causes and best treatments for rare diseases.

Our basic science and translational research programs are focused on numerous compelling areas of rare disease research at the cellular and molecular levels. From investigating the mechanisms of human disease, transcriptional regulation and DNA sequence variation in the non-coding majority of the genome, and why rare diseases occur in an individual or family, to exploring the mechanisms responsible for birth defects in 22q11.2 deletion syndrome (22q11.2DS) and neurodegeneration in RNA polymerase III-related leukodystrophy, and developing gene therapy for hereditary red blood cell disorders, our researchers are pushing the boundaries of modern science.