PPT-Advances in gene therapy for phenylketonuria (PKU)

Cary O Harding MD Department of Molecular amp Medical Genetics Disclosures BioMarin Corporation Funds for participation in clinical trials Sapropterin dihydrochloride rAvPALPEG National PKU Alliance. Keyp = Mutated PKU Gene Kevin M. Antshel, Ph.D.. Associate Professor of Psychiatry / Licensed Psychologist. State University of New York – Upstate Medical University. Outline. ADHD basics. Executive functioning. ADHD and PKU. By: Adrienne Gebele. What is PKU?. 1. Inherited disorder. Occurrence varied due to ethnicity and geography. About 1 and 10,000 to 15,000 infants are born with in the U.S.. People born with PKU have an inactive liver enzyme which causes a dangerous build up of phenylalanine in the blood. INTRODUCTION. Most developments in biotechnology originated for their potential applications in health care.. Contribution of biotechnology:. Diagnosis of diseases. Therapeutic agents. Correction of genetic disease-Gene therapy. By Kevin Zhu, Walter Chen, and. Sachin Patro. Definition. Phenylketonuria (PKU) is a genetic disorder that is described by an lack of ability of the body to use the necessary amino acid called phenylalanine. Amino acids are the building blocks for body’s proteins. 'Essential' amino acids can only be attained from the food that we eat. Our body does not normally produce them. The 'classic PKU', the enzyme that breaks down phenylalanine hydroxylase, is absolutely or almost completely lacking. This enzyme normally turns phenylalanine to another amino acid called tyrosine. Without this ‘Classic PKU', phenylalanine and it’s other breakdown chemicals from other enzyme method, build up in the blood and body tissues. . Through Modeling. Background Information. Robert Guthrie, M.D., Ph.D.. 1947 son John born disabled. Became interested in the causes and prevention of mental retardation. Son’s disability was never diagnosed. Development. PKU. : A Life Course . Development . Perspective. PKU & Life Course Development:. Birth to Two Years. Issues. :. Brain . is particularly sensitive to elevated phenylalanine . levels. Denise M. Ney, PhD, RD . Professor of Nutritional Sciences . Waisman Center. University of Wisconsin-Madison . Disclosure. D Ney is a co-inventor on US Patent Application US-2010-0317597, GMP Medical Foods for Nutritional Management of PKU, which is held by the Wisconsin Alumni Research Foundation and licensed to . . SYFTET. Göteborgs universitet ska skapa en modern, lättanvänd och . effektiv webbmiljö med fokus på användarnas förväntningar.. 1. ETT UNIVERSITET – EN GEMENSAM WEBB. Innehåll som är intressant för de prioriterade målgrupperna samlas på ett ställe till exempel:. Therapy of enzyme defects: general considerations. How many organs are affected by the enzyme defect: One organ, a few, or all organs?. How severe is the defect?. Can the defect be adequately controlled by conventional treatment?. Erbil. Collage . of . Education. Department of . Chemistry . Alkaptonuria. , Albinism, Phenylketonuria . Diseases. Prepared. . By. :. . Supervised. . By:. Sunds. Safar . Hussen. . Gene therapy . is when DNA is introduced into a patient to treat a genetic disease. The new DNA usually contains a functioning gene to correct the effects of a disease-causing mutation. . Gene therapy uses sections of DNA (usually genes) to treat or prevent disease. The DNA is carefully selected to correct the effect of a mutated gene that is causing disease. The technique was first developed in 1972 but has, so far, had limited success in treating human diseases. Gene therapy may be a promising treatment option for some genetic diseases, including . f the NPKUA. Justin Young, DDS, MD. Sarah Foster, MPS. Founding Co-Chairs. Speaker Conflict of Interest Statement. Justin Young . . Nothing to disclose. Sarah Foster. . Employee of Applied Nutrition, manufacturers of medical food for PKU and other inborn errors of metabolism. Cell therapy is defined as the administration of live whole cells or maturation of a specific cell population in a patient for the treatment of a disease. . – Bone Marrow Transplantation. Bone . Marrow Transplantation for DBA.