• diagnosis
  • Although carrier-screening programs in this population have been established at some centers to identify couples at risk for having a child affected with Gaucher disease, testing must be offered in conjunction with genetic counseling to provide couples at risk, even asymptomatic individuals, with a description of the range of associated phenotypes and their options, which include prenatal diagnosis. (medscape.com)
  • Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. (medscape.com)
  • Bone
  • Gaucher disease symptoms range from mild to severe, are a result of the accumulation of a fatty substance (lipid) called glucocerebroside in bone marrow cells. (brighthub.com)
  • A second form of treatment is bone marrow transplantation, although this carries more risk and is generally not performed on individuals with Gaucher. (brighthub.com)
  • Skeletal weakness and bone disease may be extensive. (wikipedia.org)
  • severity
  • These changes correlated strongly with disease severity. (nih.gov)
  • The cellular changes in GCase deficiency were accompanied by elevated T-helper (Th)1 and Th2 cytokines that also tracked with disease severity. (nih.gov)
  • Profound changes in thymic immune cells in GBA1-deficient mice correlate with disease severity. (nih.gov)
  • Shire
  • This study also contains company profiling, product picture and specifications, sales, market share and contact information of various international, regional, and local vendors of United States Gaucher Disease Market, some of them are Sanofi, Shire, Actelion Pharma, Pfizer & ISU Pharm . (medgadget.com)
  • disorders
  • These findings provide insight into a therapeutic strategy for Gaucher disease and other human disorders that are associated with protein misfolding. (pnas.org)
  • Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. (wikipedia.org)
  • Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. (wikipedia.org)
  • citation needed] Disorders of carbohydrate metabolism E.g., glycogen storage disease, G6PD deficiency Disorders of amino acid metabolism E.g., phenylketonuria, maple syrup urine disease, glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects E.g. (wikipedia.org)
  • These genetic defects are related to several neurodegenerative disorders, cancer, cardiovascular diseases, and ageing-related diseases. (wikipedia.org)
  • Termeer created a business model adopted by many others in the biotech industry by garnering steep prices- mainly from insurers and government payers- for therapies for rare genetic disorders known as orphan diseases that mainly affect children. (wikipedia.org)
  • physician
  • In its simplest form, a disease registry could consist of a collection of paper cards kept inside "a shoe box" by an individual physician. (wikipedia.org)
  • treatment
  • Treatment for Type 1 Gaucher disease""the type that does not cause a rare and fatal neurodegenerative childhood disease""involves expensive recombinant enzyme infusions every two weeks for life, which on average cost $200,000 per year. (redorbit.com)
  • In order to tailor treatment to individuals, we need an improved understanding of the disease mechanisms," said senior author of the study, Pramod Mistry, M.D., professor of pediatrics and internal medicine at Yale School of Medicine. (redorbit.com)
  • Discovering that a child has neuronopathic Gaucher disease is devastating but to learn that there are few other sufferers, that there is little information available or known about the disease, and that there is not an effective treatment for the neurological aspects of the disease is at first incomprehensible. (gaucher.org.uk)
  • Zavesca approved -- first oral treatment option for type 1 Gaucher disease UK Medicines Information. (wikipedia.org)
  • Actelion currently has 10 compounds in its pipeline - including 3 in late-stage development - and 4 medicines on the market for orphan diseases: Tracleer (bosentan): Tracleer was the first oral treatment approved for pulmonary arterial hypertension, a rare, chronic, life-threatening disorder that severely compromises the functions of the lungs and heart. (wikipedia.org)
  • disorder
  • Type 1 Gaucher disease is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. (healthcentral.com)
  • As the lipid accumulates, the glucosyl ceramide gets stored in macrophages (the scavenges cells of the body), which takes up characteristic appearance unique to those affected with this disorder ('Gaucher Cells' - basically termed as). (pharmainfo.net)
  • When a disorder is dominant, the disease can occur when there are DNA mistakes in only one of the two gene copies. (ukessays.com)
  • Type 1 Gaucher disease is a rare and debilitating metabolic disorder. (wikipedia.org)
  • treatments
  • With this knowledge, we can look forward to developing treatments that are directed not only to macrophages, but to all cell types involved in the disease process. (redorbit.com)
  • Ashkenazi Jewish
  • This series describes the diseases tested for in the Ashkenazi Jewish Genetics Panel (AJGP). (brighthub.com)
  • Those of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease, with 1 in 750 affected. (redorbit.com)
  • Gaucher disease occurs in 1 in 50,000 to 100,000 people in the broad population' (ii) and occurs more commonly in people of Ashkenazi Jewish heritage than anyone else. (ukessays.com)
  • This disease affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage' (ii) the reason it affects people of Ashkenazi Jewish heritage is because of 'founder effect is where a gene mutation is observed in high frequency in a specific population due to the presence of that gene mutation in a single ancestor or small number of ancestors. (ukessays.com)
  • rare diseases
  • Termeer was named as one of the top fifty leaders of thought in orphan drugs and rare diseases in a list published by Terrapin for the World Orphan Drug Congress which included "eminent personalities that have advanced rare disease research. (wikipedia.org)
  • He will always be known as the guy who figured out how to build a great business by making drugs for rare diseases. (wikipedia.org)
  • Osteochondrodysplasias are rare diseases. (wikipedia.org)