Genetic disorders of the pancreas.
The venues opened to all by the remarkable studies of the genome are just starting to become manifest; they can now distinguish different variants of a disease; they are given the tools to better understand the pathophysiology of illness; they hope to be able to provide better treatment alternatives to our patients. The examples described in this review demonstrate the applicability of these concepts to pancreatic disorders. Researchers may be just scratching the surface at this time, but the potential is enormous. Many philosophic and ethical questions need to be answered as physicians move along: Should all family members of an index case be screened? Who should pay for testing? Who should get results? But, without the participation of so many patients, their family members, and numerous volunteers, researchers would not have witnessed the bridging of so many gaps as they have so far. All of us may now look forward to the application of this incredible knowledge to the therapeutic solutions so eagerly awaited.
Morinville
Véronique
V
Division of Gastroenterology and Nutrition, McGill University Health Center, Montreal Children's Hospital, 2300 Tupper Street #D562, Montreal, QC H3H 1P3 Canada.
Perrault
Jean
J
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency / Q000235:genetics; D002352:Carrier Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005838:Genotype; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics; D009154:Mutation; D010182:Pancreatic Diseases / Q000235:genetics*; D010641:Phenotype; D012307:Risk Factors; D014359:Trypsin Inhibitor, Kazal Pancreatic
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; C505032:CFTR protein, human; D002352:Carrier Proteins; D036341:Intercellular Signaling Peptides and Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D008071:Lipoprotein Lipase