- June 14, 2019
Connecticut Magazine’s 2019 “Best Doctors” list includes 217 Yale Medicine physicians in 50 specialties who were selected by their peers as the best in their fields.
- April 15, 2019
Genetic analysis has potential to transform diagnosis and treatment of adults with liver disease of unknown causeSource: Science Daily
Adults suffering from liver disease of unknown cause represent an understudied and underserved patient population. A new study supports the incorporation of whole-exome sequencing (WES) in the diagnosis and management of adults suffering from unexplained liver disease and underscores its value in developing an understanding of which liver phenotypes of unknown cause in adults are genetic.
- November 16, 2018
Pramod Mistry, MBBS, PhD, FRCP, professor of medicine (digestive diseases) and pediatrics; professor of cellular & molecular physiology, presented statistics, research, and patient examples in the November 15 Department of Internal Medicine’s Medical Grand Rounds: “Gaucher Disease: The Story of How a Rare Inborn Error of Metabolism Transforms our Understanding of Two Common Diseases.”
- November 20, 2017Source: Yale Medicine
For years, physicians and specialists puzzled over Amanda Gonzalez-Bunster's unusual -- and seemingly unrelated -- symptoms, until a Yale doctor suggested genetic sequencing.
- February 13, 2013
Positive New Data Announced from Two Phase 3 Studies for Oral Eliglustat Tartrate for Gaucher DiseaseSource: Genzyme
Genzyme, a Sanofi company, today announced positive new data from the Phase 3 ENGAGE and ENCORE studies of eliglustat tartrate, its investigational oral therapy for Gaucher disease type 1.
- November 01, 2012Source: Gaucher Life.co.uk
The winners of the 2012 Gaucher Generation Programme Awards are Elena Pavlova, MD, PhD, of Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK (New Investigator Award), Gustavo Tiscornia, University of Algarve, Faro, Portugal, (New Investigator Award), and Pramod K Mistry, Yale University School of Medicine, New Haven, USA (Established Investigator Award).
- October 01, 2011
Dr. Pramod K. Mistry, professor of pediatrics and internal medicine, explains that Gaucher disease does not only affect macrophage cell types. Related diseases such as cancer, Parkinson, and osteoporosis occur as a direct interaction with cells across the entire body. Currently approved options are successful at controlling Gaucher disease but do not focus on the entire body, he says, adding that the next step is to have an agent that can actively regulate lipid metabolism in all cells.
- November 01, 2010
In an important breakthrough, researchers at Yale School of Medicine have found that new disease pathways involving more than one cell type leads to Type 1 Gaucher disease, a rare genetic disorder resulting in liver/spleen enlargement, low blood counts, osteoporosis, bone pain, and increased risk of cancer and Parkinson's disease.
- October 19, 2010
Researchers at Yale School of Medicine have found that new disease pathways involving more than one cell type leads to Type 1 Gaucher disease, a rare genetic disorder in which fatty substances called glycosphingolipids accumulate in cells, resulting in liver/spleen enlargement, osteoporosis, bone pain, and increased risk of cancer and Parkinson's disease.