Yale Program Accepted Into NORD Rare Diseases Centers of Excellence Network
While a single rare disease may only affect a small proportion of the population, as many as 10 percent of Americans live with rare diseases, and most of those 30 million people have limited or no treatments and lack access to expert care. Now, Yale School of Medicine is joining the NORD Rare Disease Centers of Excellence network with a mission to provide better care for patients with large unmet needs.
Genetic analysis has potential to transform diagnosis and treatment of adults with liver disease of unknown cause
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.Source: Science Daily
November 15, 2018 Medical Grand Rounds Recap
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.”
Positive New Data Announced from Two Phase 3 Studies for Oral Eliglustat Tartrate for Gaucher Disease
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.Source: Genzyme
Winners of the 2012 Gaucher Generation Programme Awards Announced
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).Source: Gaucher Life.co.uk
A whole-body perspective on Gaucher disease
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.
Breakthrough could improve treatment for Type 1 Gaucher
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.
Cheaper, More Effective Treatment of Type 1 Gaucher Disease Possible
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.