PPT-Genetic disorders (PKU, and Cystic Fibrosis)

Supervised by Dr Nuhad Alduri Prepared by zahraa basim mohammed Phenylketonuria Phenylketonuria an inborn error of metabolism inherited as an autosomal recessive trait the PAH gene is located on chromosome 12q24 is caused by a deficiency or absence of the enzyme needed to metabolize the essential amino acid phenylalanine Classic PKU is at one end of a spectrum of conditions known as . Rosa Rodriguez. What is it?. Cystic fibrosis is a hereditary disease that affects the cystic fibrosis transmembrane conductance regulator (CFTR) protein, thus its name. . Lifelong progressive disease. Module 1: Cystic Fibrosis Overview. Learning Objectives. Describe the pathophysiology of cystic fibrosis, and specifically how the disease process alters nutrient digestion, absorption, and metabolism.. Broadening Your Health Care Team . Meredith Wiltsie, MN, ANP, FNP . Nurse Practitioner, adult Cystic Fibrosis program. Cystic Fibrosis Education Day. March 11. th. , 2017. No disclosures. If you are a CF Center patient, why do you need a Primary Care Physician? . B. oyle. Other names for cystic fibrosis are CF, Pancreas fibrocystic disease, and Pancreatic cystic fibrosis. The name was chosen because.  . cystic . means biliary . area . and fibrosis refers to the scarring of the tissue. So Cystic Fibrosis means tissue scarring of the biliary . Module 1: Cystic Fibrosis Overview. Learning Objectives. Describe the pathophysiology of cystic fibrosis, and specifically how the disease process alters nutrient digestion, absorption, and metabolism.. . Single gene . Mendelian. disorder. Gene codes for the Cystic Fibrosis . Transmembrane. Conductance Regulator protein (CFTR). Daniel R. . Taub. and Joshua Page. Cystic Fibrosis: Exploration of evolutionary explanations for the high frequency of a common genetic disorder.. by. Kathleen A. Nolan and Allen J. . Burdowski. . Biology . and Health Sciences. St. Francis College, Brooklyn, NY. NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCE. Students, before coming to class you should have:. CP Biology. Genetic Disorders. Major types of genetic disorders:. Autosomal. Single genes. Multiple genes. Sex-linked. Chromosome abnormalities. Autosomal Disorders. Autosomal genetic disorders . are caused by alleles on autosomes (chromosomes other than the sex chromosomes). Table of Contents Presentation 5 Presentation Resources 6-7 Teacher/Faculty Curriculum 8-9 Teacher/Faculty Resources 10 K-2nd Grade Activities/Materials 11 3rd-5th Grade A Director Dell Children’s Medical Center CF Center. October 28, 2017. Objectives. Pathophysiology of CF. Genetics of CF. Diagnostic evaluation for CF. Respiratory issues in CF. GI and nutrition issues in CF. Nursing College. Cystic Fibrosis. Inherited—. autosomal. recessive. Both parents must be carriers. Each child has a 1 in 4 chance of being affected. Affects primarily white children. Father Mother. LUNG CYSTIC FIBROSIScontinuedHow Serious Is Cystic Fibrosis?CF is a life-threatening condition. There are about 30,000 people with cystic brosis in the United States and approximately 70,000 peop Hasan NA, Davidson RM, Epperson L, Kammlade SM, Beagle S, Levin AR, et al. Population Genomics and Inference of Mycobacterium avium Complex Clusters in Cystic Fibrosis Care Centers, United States. Emerg Infect Dis. 2021;27(11):2836-2846. https://doi.org/10.3201/eid2711.210124. Dr. JP Jarczyk, MD. February 11, 2023. Disclosures. I have no conflicts of interest to disclose. Objectives. Understand basic genetics of CF. Understand basic pathophysiology of CF. Understand treatments for pediatric patients with CF.