About Rare Diseases
A rare disease can be a life-threatening or chronically debilitating condition,1 and despite being individually rare, rare diseases are collectively common with an estimated 350 million individuals thought to be living with a rare disease worldwide.2
Hereditary Angioedema (HAE) is a very rare and potentially life-threatening genetic condition. HAE symptoms include episodes of edema (swelling) in various parts of the body including the hands, feet, face and airways.3–7 For more information and resources on HAE, click here.
Short Bowel Syndrome
Short Bowel Syndrome, or SBS, is a rare, life-threatening gastrointestinal disorder in which patients are unable to maintain nutrient and fluid balances with a normal diet, which generally occurs when a large portion of the small intestine is removed by surgery.8-10
Fabry Disease, Gaucher Disease and Hunter Syndrome all belong to a group of diseases called lysosomal storage disorders (LSDs). LSDs are caused by a mutation of a certain specific gene that causes a wide range of symptoms.11
Fabry disease is a rare genetic X-linked disorder that is one of a group called lysosomal storage disorders (LSDs)11,12 that causes a wide range of symptoms due to abnormal deposits of a fatty substance (called globotriaosylceramide) in the cells of the body.13,14 Click here to find more information about Fabry disease.
Gaucher disease is caused by a genetic mutation resulting in the deficiency, absence or incomplete functioning of a lysosomal enzyme called glucocerebrosidase. This leads to a build-up of a fatty waste substance (glucocerebroside) in cells, tissues and organs.15,16 Click here to find more information and resources on Gaucher disease.
Primarily affecting boys, Hunter syndrome (or mucopolysaccharidosis II/MPS II) is a serious genetic disorder that interferes with the way cells and organs in the body function.17 For more information and resources on Hunter syndrome, click here.
Dr. Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening ProgramDr. Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program for hereditary metabolic disorders since its inception more than 35 years ago. We recently had the pleasure of interviewing Dr Auray-Blais about her work on the Shire-supported project to generate a multiplex UPLC-MS analysis of biomarkers to diagnose MPS I, II, III, IV and VI.
Dr. Laura Baroncelli, PhD, Italian National Research Council (CNR) discusses the CCDS1 research she presented at SSIEM.Laura Baroncelli, PhD, has been a Researcher at the Neuroscience Institute of the Italian National Research Council (CNR) in Pisa since 2011. She received her PhD in Neurobiology at the Scuola Normale Superiore. The main focus of her work has been the study of cerebral plasticity during development and adulthood, and in animal models of neurodevelopmental and neurodegenerative disorders, using a multidisciplinary approach that comprised electrophysiological, biochemical, optical and behavioral techniques.
Professor Arndt Rolfs, M.D, discusses the importance of biomarkers in early diagnosis and monitoringAn interview with Professor Arndt Rolfs, a Professor for Neurology and Psychiatry at the University of Rostock, Germany, head of the Albrecht-Kossel-Institute at the University of Rostock and since June 2014 Chief Executive Officer of Centogene AG. Ahead of SSIEM 2016, we had the pleasure of interviewing Arndt Rolfs, M.D, Professor for Neurology, about his opinions on key topics related to the diagnosis of lysosomal storage diseases (LSDs).
SSIEM 2016 Day 2 summaries of Dr Simmons, Dr Lee, Dr Emma and Dr Auray-BlaisWe had another exciting day at SSIEM in Rome where we attended a number of lectures and heard about innovative new technologies and biomarkers in the rare disease space. We have highlighted a number of those lectures below, including those of Dr Simmons, Dr Lee, Dr Emma and Dr Auray-Blais.
This information should not be used in place of advice from your general practitioner or other healthcare professional. If in doubt please contact your doctor for advice.