BULGARIAN NATIONAL PLAN. Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD)
|
|
- Hollie Greer
- 5 years ago
- Views:
Transcription
1 BULGARIAN NATIONAL PLAN FOR RARE DISEASES Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD)
2 Strategy for rare diseases in Bulgaria Project of National Program for Rare Diseases November 2006 March 2008 the Healthcar re Committee at the Bulgarian National Assembly started discussion on issues concerning prevention, diagnosis, treatment and rehabilitation of people with rare diseases in Bulgaria September 2008 Mr. E. Zhelev, Minister of Health, has approved the National Programme for Rare Diseases ( )
3 National program for rare diseases (genetic, birth defects and non inherited diseases) To create an adequate institutional framework and mechanisms, ensuring timely prevention, diagnosis, optimal treatment and rehabilitation of patients with rare diseases (genetic, birth defects and non inherited diseases) in Bulgaria. Patient associations Awareness Integrationn Research Medical training Neonatal screening Genetic services Epidemiological surveillance EU collaboration Budget: 11.3 M???
4 Program Activities 1. Establishment of a National Consulting Council for Rare Diseases (NCCRD) within the Ministry of Health
5 Program Activities 2. Establishment of expert panels for rare diseases working with the national consultants The main task is to propose to NCCRD a list of actual for Bulgaria rare dis seases within the scope of their corresponding medical specialty. Status still working on!!!
6 Program Activities 3. Establishment of a national network of information reference centres for rare diseases
7
8 Program Activities 4. Establishment of a national register of patients with rare diseases Status still working on!!!
9 NATIONAL ALLIANCE OF PEOPLE WITH RARE DISEASES NATIONAL ASSOCIATION OF GAUCHER DISEASE CORNELIA DE LANGE SYNDROME ASSOCIATION ASSOCIATION OF LYMPHOMA PATIENTS ASSOCIATION EPIDERMOLYSISS BULLOSA BULGARIA BULGARIAN ANTI THALASSAEM MIA ORGANISATION ORGANISATION OF THALASSAEMIA PATIENTS IN BULGARIA BULGARIAN ASSOCIATION FOR NEUROMUSCULAR DISEASES NATIONAL ASSOCIATION OF PEOPLE SUFFERING FROM CHRONIC MYELOGENOUS LEUKEMIA BULGARIAN ASSOCIATION PRADER WILLI SYNDROME BULGARIAN CYSTIC FIBROSIS ASSOCIATION BULGARIAN ASSOCIATION WILSON'S DISEASE
10 Program Activities 5. Improvement of the prevention and diagnostics of rare genetic diseases, predispositions, and congenital anomalies (PKU, CHT, 21 hydroxylase deficiency) 6. Improved treatment control of genetic and congenital diseases Introducing of mass neo onatal screening for 21 hydroxylase deficiency Promotion and Enlargment of Biochemical Screening for most common aneuploidies Introducing of genetic test for mental retardation, several monogenic disorders Introducing of methods for clarifying the carrier status in families with DMD, and SMA
11 List of disorders PKU Hyperphenylalaninemia Tyrosinemia I Tyrosinemia II MSUD Nonketotic hyperglycinemia Citrullinemia (ASS) Argininemia (ARG1) Alkaptonuria Methylmalonic acidemia Propionic acidemia Holocarboxilase synt. def. MLYCD Malonyl CoA decarboxilase def. Isovaleric acidemia (IVA) 3M crotonyl CoA Carboxilase def. (MCCC1) 3 M glutaconyl CoA hydratase def. (MGA3) III 3 OH 3 M Glutaric aciduria (HMGCL) Mevalonic aciduria (MVK) Dihydropyrimidine deficiency (DPD) Orotic aciduria 5 Oxoprolinuria Glutaric aciduria I (GAI) 2 OH Glutaric aciduria Glyceroluria (GK1) D Glyceric aciduria (D glycerate kinase deficiency) Fumarase def. (FH) Canavan 4 OH butyric aciduria (SSADH) MCAD SCAD LCAD LCHAD MADD (glutaric aciduria II) X ALD Lipoamide dehydrogenase defficiency (Е3) Galactosemia, classic Galactokinase deficiency G6PD deficincy GM1
12 List of disorders Orotic aciduria 5 Oxoprolinuria Glutaric aciduria I (GAI) 2 OH Glutaric aciduria Glyceroluria (GK1) D Glyceric aciduria (D glycerate kinase deficiency) Fumarase def. (FH) Canavan 4 OH butyric aciduria (SSADH) MCAD SCAD LCAD LCHAD MADDD (glutaric aciduria II) X ALD Lipoamide dehydrogenase defficiency (Е3) Galactosemia, classic Galactokinase deficiency G6PD deficincy GM1 Orotic aciduria 5 Oxo oprolinuria Glutaric aciduria I (GAI) 2 OH Glutaric aciduria Glyceroluria (GK1) D Glyceric aciduria (D glycerate kinase deficiency) Fumarase def. (FH)
13 List of disorders alpha 1 antitrypsine deficiency CCFDN GEFS+ Congenital myasthenia epsilon disease DMD BMD XLD LMD2A CMT 1A CMT 1B CMT 1F/2E CMTX1 CMT 2A: CMT 2A2, CMT 2A1 CMT 2D DI CMTC Spinal muscular atrophy type I (SMA 1) Spinal muscular atrophy type II (SMA 2) Spinal muscular atrophy type III (SMA 3) Beta thalassemia Cystic fibrosis Hemophilia A Dilatative cardiomyopathy (CMD1A), lamin A/C Familial partial lipodystrophy (FPLD), lamin A/C Mandibuloacral dysplasia (MAD), lamin A/C Hutchinson Gilford progeria syndrome (HGPS), lamin A/C Werner's syndrome (WS), lamin A/C Restrictive dermopathy (RD), lamin A/C Ken nedy disease CCFN CMS Niemann Pick disease MCAD HMSNL Smith Lemli Opitz syndrome Myotonic dystrophy 1 Steinert Disease Myotonic dystrophy 2 PROMM MUSCULAR DYSTROPHY, CONGENITAL MEROSIN DEFICIENT, 1A; MDC1A Huntington chorea, huntingtin
14 Program Activities 7. Improved communication among the medical genetic consulting offices throughout the country 8. Improved genetic and screening network structure in the country Internet based usag ge of software for risk calculation between the centers providing Biochemical Screening for aneupolidies Internet access to the results from Biochemical Screening for the patients.
15
16 Program Activities 9. Increase of the awareness, knowledge and professional qualification of the medical professionals. Meeting of the neonatologist for education in early diagnosis of ly ysosomal storage disorders in neonatal period Meeting of pediatricians for education in early diagnosis growth hormone deficiency in children
17 Program Activities Equal access to diagnostics and prevention in minority populations
18 Roma population Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet Oct;14(2): Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Ne eurol Jun;45(6):
19 Roma population Equal access to diagnostics and prevention OMIM ID A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet Sep;67(3): Epub 2000 Jul 27.
20 Program Activities Prenatal diagnosis s 1900 for diagnosed eneuploidies 8 risk pregnancies for monogenic disorders
21 "You got to make good out of bad "That's alll there is to make it with." Robert Penn Warren
Newborn Screening: Focus on Treatment
Newborn Screening: Focus on Treatment Alan R. Fleischman, M.D. Senior Vice President and Medical Director March of Dimes National Conference of State Legislatures July 21, 2008 Newborn Screening: A Public
More informationBROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.
BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING. The Inheritest SM Carrier Screen provides relevant genetic screening for many inherited diseases found throughout the pan-ethnic US population.
More informationOverview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy
Overview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy Alan R. Fleischman, M.D. Senior Vice President and Medical Director Chair, Federal Advisory Committee,
More informationCHRONIC MYELOGENOUS LEUKEMIA
CHRONIC MYELOGENOUS LEUKEMIA SHUFFLING THE GENETIC DECK IN CML 9 9 (q+) 22 Ph (22q-) bcr bcr-abl abl Fusion protein causes cancer GLEEVEC AND BCR-ABL FUSION PROTEIN GENETIC MEDICINE A. Genetic diseases
More informationFor Your Baby s Health Department of Health
Newborn Screening For Your Baby s Health Department of Health Why is my baby tested? To help make sure your baby will be as healthy as possible. The blood test provides important information about your
More informationMost common is the congenital adrenogenital syndrome (AGS) or congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
Newborn Screening Examination parameters: TSH-neonatal (hypothyreosis), 17-OH progesterone (AGS), galactose (galactosemia), galactose-uridyl transferase (galacto semia), biotinidase (biotinidase ), phenylalanine
More informationFurther expansion of the neonatal screening panel in the Netherlands
Further expansion of the neonatal screening panel in the Netherlands J.Gerard Loeber APHL-NBSGT, St.Louis (MO), USA 290216 Population Area Newborns 6.01 million 0.35:1 16.8 million 180,693 sq km 4.3:1
More informationRoutine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015
Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015 Metabolic birth defects can cause physical problems, mental retardation and, in some cases, death. It is
More informationCentres of reference for rare diseases expectations based on Polish experience. Małgorzata Krajewska-Walasek
Centres of reference for rare diseases expectations based on Polish experience Małgorzata Krajewska-Walasek Department of Medical Genetics, The Children s Memorial Health Institute, Warsaw, Poland My presentation
More informationPositive Newborn Screens: What do you do next?
Positive Newborn Screens: What do you do next? James B. Gibson, MD, Ph.D. Biochemical Geneticist at Specially for Children Clinical Associate Professor of Pediatrics UTHSCSA Carla R. Scott, MD Pediatric
More informationState of the Art of Rare Disease Activities in EU Member States and Other European Countries. Slovak Republic Report
State of the Art of Rare Disease Activities in EU Member States and Other European Countries Slovak Republic Report Definition of a Rare Disease The Slovak Republic has adopted the European Commission
More informationA Lawyer s Perspective on Genetic Screening Performed by Cryobanks
A Lawyer s Perspective on Genetic Screening Performed by Cryobanks As a lawyer practicing in the area of sperm bank litigation, I have, unfortunately, represented too many couples that conceived a child
More informationNEWBORN SCREENING. in Massachusetts: Answers for You and Your Baby. University of Massachusetts Medical School
University of Massachusetts Medical School NEWBORN SCREENING in Massachusetts: Answers for You and Your Baby New England Newborn Screening Program Biotech 4, 2nd Floor UMass Medical School 377 Plantation
More informationActivities in the field of rare diseases in Slovakia. CISARIK František Faculty Hospital Žilina
Activities in the field of rare diseases in Slovakia CISARIK František Faculty Hospital Žilina As we progress? Slovak National Strategy for the Development of Health Care for Patients with Rare Diseases
More informationNEWBORN SCREENING. in Massachusetts: Information for You and Your Baby. University of Massachusetts Medical School
University of Massachusetts Medical School NEWBORN SCREENING in Massachusetts: Information for You and Your Baby New England Newborn Screening Program Biotech 4, 2nd Floor UMass Medical School 377 Plantation
More informationMISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES
NEWBORN SCREENING Protecting your newborn MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES [ 1 ] NEWBORN SCREENING [ 2 ] FREQUENTLY ASKED QUESTIONS [ 4 ] DISORDERS INCLUDED IN NEWBORN SCREENING [ 12 ]
More informationThe Israeli population carrier screening program. Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem
The Israeli population carrier screening program Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem The Israeli population 2015 8,134,500 inhabitants Jews (75.1%) Ashkenazi, non
More informationQUESTION. Personal Behavior History. Donor Genetic History. Donor Medical History. Family Medical History PERSONAL BEHAVIOR HISTORY. Never N/A.
Donor 4576 Medical Profile S Personal Behavior History Donor Genetic History Donor Medical History Family Medical History PERSONAL BEHAVIOR HISTORY Current alcohol use: If yes, oz./week and type of alcohol:
More informationState of the Art of Rare Disease - Activities in EU Member States and Other European Countries. Belgium Report
State of the Art of Rare Disease - Activities in EU Member States and Other European Countries Definition of a Rare Disease Belgium Report The definition of rare diseases in the Belgian Plan for Rare Diseases
More informationNEWBORN SCREENING. health.mo.gov/newbornscreening MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES
NEWBORN SCREENING health.mo.gov/newbornscreening MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES Table of Contents NEWBORN SCREENING...1 FREQUENTLY ASKED QUESTIONS...2 DISORDERS INCLUDED IN NEWBORN SCREENING...4
More informationShould Universal Carrier Screening be Universal?
Should Universal Carrier Screening be Universal? Disclosures Research funding from Natera Mary E Norton MD University of California, San Francisco Antepartum and Intrapartum Management June 15, 2017 Burden
More informationTitle: Assessing Recommendations Related To Timeliness of Newborn Screening
Title: Assessing Recommendations Related To Timeliness of Newborn Screening Purpose: In January 2014, the Secretary s Discretionary Advisory Committee on Heritable Diseases on Newborns and Children (Committee)
More informationRare Disease Day Brussels, 1 March
Research activities in Europe: Trends and determinants Rare Disease Day Brussels, 1 March 2010 Research Death valley Development Collaboration clinicians / researchers Pharmaceutical Innovation / Performance
More informationNewborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis)
Newborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis) 1) Argininosuccinic acidemia (ASA) a) Incidence: ~1 in 70,000 b) Deficiency in an enzyme of
More informationA Guide for Prenatal Educators
A Guide for Prenatal Educators Why Teach Newborn Screening This booklet is designed to make it easy for you, a prenatal educator, to effectively inform expectant parents about newborn screening. All of
More information[R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE PLANTATIONS DEPARTMENT OF HEALTH. February October October 1992 (E) September 1995
RULES AND REGULATIONS PERTAINING TO THE NEWBORN METABOLIC, ENDOCRINE, AND HEMOGLOBINOPATHY SCREENING PROGRAM AND THE NEWBORN HEARING LOSS SCREENING PROGRAM [R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE
More informationTIMELINESS OF NEWBORN SCREENING: RECOMMENDATIONS FROM ADVISORY COMMITTEE ON HERITABLE DISORDERS IN NEWBORNS AND CHILDREN
TIMELINESS OF NEWBORN SCREENING: RECOMMENDATIONS FROM ADVISORY COMMITTEE ON HERITABLE DISORDERS IN NEWBORNS AND CHILDREN Susan Tanksley, PhD May 19, 2015 TIMELINESS - BACKGROUND In order to effectively
More informationAll diseases on Foresight
All diseases on Foresight Disease 11-Beta-Hydroxylase- Deficient Congenital Adrenal Hyperplasia 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 3-Hydroxy-3-Methylglutaryl- CoA Lyase Deficiency
More informationInborn Errors of Metabolism (IEM)
Clinical Presentation Inborn Errors of Metabolism (IEM) Click on the following: - Clinical Pearl - link to movie clip - link to picture Investigations Blood Work Urine No Acidosis NH 4 + Metabolic Acidosis
More informationNewborn Bloodspot Screening Information for parents
Newborn Bloodspot Screening Information for parents You will be offered a bloodspot screening test for your newborn baby for several rare but serious conditions. The sample for this test is usually taken
More informationTopeka Indiana LaGrange/ Elkhart Counties Indiana Plain Church Population over 46,000
Topeka Indiana LaGrange/ Elkhart Counties Indiana Plain Church Population over 46,000 Need Recognition Recognition of need local community members and Indiana Hemophilia and Thrombosis Center Initial Survey
More informationDiagnose a broad range of metabolic disorders with a single test, Global MAPS
PEDIATRIC Assessing or diagnosing a metabolic disorder commonly requires several tests. Global Metabolomic Assisted Pathway Screen, commonly known as Global MAPS, is a unifying test for analyzing hundreds
More informationNewborn Screening: Blood Spot Disorders
Newborn Screening: Blood Spot Disorders Arizona s Newborn Screening Program Program Overview Panel of Disorders Disorder Descriptions Program Components Hospitals ADHS Lab ADHS Follow-up ADHS Billing Medical
More informationIntegrating the Latest in Genomic Science into Modern Medical Practice
Integrating the Latest in Genomic Science into Modern Medical Practice Mayo Clinic Center for Individualized Medicine Datapalooza DC, 2017 4/21/2017 1 My Genome is an iron overloaded, lipid accumulating,
More informationNewborn Bloodspot Screening Information for parents
Newborn Bloodspot Screening Information for parents You will be offered a bloodspot screening test for your newborn baby for several rare but serious conditions. The sample for this test is usually taken
More informationNEWBORN METABOLIC SCREEN, MINNESOTA
Lab Dept: Test Name: Chemistry NEWBORN METABOLIC SCREEN, MINNESOTA General Information Lab Order Codes: Synonyms: CPT Codes: Test Includes: PKUN Newborn Screen for Hyopothyroidism, Phenylketonuria (PKU),
More information(f) "Birthing center" means any facility that is licensed by the Georgia Department of Community Health as a birthing center;
Ga. Comp. R. & Regs. r. 511-5-5-.02 Definitions Rule 511-5-5-.02. Definitions (a) "Abnormal test result" is a test result from blood testing or physiologic monitoring that is outside the screening limits
More informationPREDICAGEN LLC REPORT
The report below is a scientific interpretation of the DNA variants (referred as RS numbers) to the customer by a third party (for example 23andMe). The report should not be considered exclusive, because
More informationNewborn Screening in Manitoba. Information for Health Care Providers
Newborn Screening in Manitoba Information for Health Care Providers Newborn screening: a healthy start leads to a healthier life Health care professionals have provided newborn screening for phenylketonuria
More informationConsiderations in Choosing Screening Conditions: One (US) Approach
22 Plenary Considerations in Choosing Screening Conditions: One (US) Approach Bradford L Therrell Jr, 1,2 MS, PhD Abstract The lack of a national policy on newborn screening (NBS) in the United States
More informationThe Compelling Benefits of Routine 2 nd NBS: A Fifteen-Year Review in Washington State. Saving lives with a simple blood spot
The Compelling Benefits of Routine 2 nd NBS: A Fifteen-Year Review in Washington State Caroline T. Nucup-Villaruz, MD Primary Author NBS Consultant - Disorder FU Santosh Shaunak Co-Author & Presenter Laboratory
More informationICD-10 Physician Education. Medical Genetics
ICD-10 Physician Education Medical Genetics Training Objectives ICD-9 to ICD-10 Comparison Documentation Tips Additional Educational Opportunities Questions 2 ICD-9 to ICD-10 Comparison Code Structure
More informationNeonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012
Neonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012 Hypotonia: reduced tension or resistance to range of motion Localization can be central (brain), peripheral (spinal cord, nerve,
More informationGenetic Diseases. SCPA202: Basic Pathology
Genetic Diseases SCPA202: Basic Pathology Amornrat N. Jensen, Ph.D. Department of Pathobiology School of Science, Mahidol University amornrat.nar@mahidol.ac.th Genetic disease An illness caused by abnormalities
More informationMetabolic Changes in ASD. Norma J. Arciniegas, MD Simón E. Carlo, MD Instituto Filius
Metabolic Changes in ASD Norma J. Arciniegas, MD Simón E. Carlo, MD Instituto Filius 12 patients 3 Autism: Ages 3/3/3.7 3 PDD: Ages 3/3/6 3 Asperger: Ages 6/7/15.1 3 Speech delay and Sensory Problems (SHL):
More informationEvaluation of the Hypotonic Infant and Child
Evaluation of the Hypotonic Infant and Child Basil T. Darras, M.D. Neuromuscular Program Boston Children s Hospital Harvard Medical School Boston, MA, USA Classification and General Clinical Evaluation
More informationGUIDE TO NEWBORN SCREENING PROGRAMME
\ GUIDE TO NEWBORN SCREENING PROGRAMME 1 MEDILAB PROFILE MEDILAB, the leading independent provider of Clinical Laboratory Diagnostic Services in Cyprus, was established in 1980 by Mr. C. Pavlides and has
More informationBeyond the case for NBS in South Africa. Chris Vorster 28/05/2016
Beyond the case for NBS in South Africa Chris Vorster 28/05/2016 The case for NBS in SA Economic justification Cost Utility analysis = Cost/QALY GDP/Capita Immediate implementation (WHO) Political justification
More informationHA Convention 2016 Master course How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up
HA Convention 2016 Master course How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up Dr. Josephine Chong Clinical Professional Consultant Centre of Inborn Errors
More informationNewborn bloodspot testing
Policy HUMAN GENETICS SOCIETY OF AUSTRALASIA ARBN. 076 130 937 (Incorporated Under the Associations Incorporation Act) The liability of members is limited RACP, 145 Macquarie Street, Sydney NSW 2000, Australia
More informationInborn Errors of Metabolism. Metabolic Pathway. Digestion and Fasting. How is Expanded Newborn Screening Different? MS/MS. The body is a factory.
Inborn Errors of Metabolism The body is a factory. Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects
More informationNewborn screening for congenital metabolic diseases Optional out-of-pocket tests Information Sheet
Newborn screening for congenital metabolic diseases Optional out-of-pocket tests Information Sheet Website:www.tipn.org.tw Telephone:(02)85962050 Ext. 401-403 Service line:(02)85962065 Fax:(02)85962067
More informationHealth and Wellness for all Arizonans. azdhs.gov
To identify newborns with certain, rare disorders and assist families of affected infants so that they receive appropriate and timely treatment to prevent or delay serious medical problems. To identify
More informationPATIENT EDUCATION. carrier screening INFORMATION
PATIENT EDUCATION carrier screening INFORMATION carrier screening AT A GLANCE Why is carrier screening recommended? Carrier screening is one of many tests that can help provide information to you and your
More informationA. disorders of amino acid metabolism classical phenylketonuria and hyperphenylalaninemia
OMIM # FULL NAME A. disorders of amino acid metabolism 1 261600 classical phenylketonuria and hyperphenylalaninemia 2 261640 phenylketonuria due to PTPS deficiency 3 261630 phenylketonuria due to DHPR
More informationGeneral Approach to Genetic Testing
Protocol General Approach to Genetic Testing (20491) (Formerly Genetic Testing for Inherited Disorders) Medical Benefit Effective Date: 01/01/14 Next Review Date: 09/14 Preauthorization Yes Review Dates:
More informationState of the Art of Rare Disease - Activities in EU Member States and Other European Countries. Portugal Report
State of the Art of Rare Disease - Activities in EU Member States and Other European Countries Definition of a Rare Disease Portugal Report Portugal has adopted the European Commission definition of a
More informationMedical Policy Preimplantation Genetic Testing
Medical Policy Preimplantation Genetic Testing Document Number: 004 Commercial* and Connector/ Qualified Health Plans Authorization required X No notification or authorization Not covered * Not all commercial
More informationExecutive summary. Criteria for inclusion in the screening programme
Executive summary Health Council of the Netherlands. Neonatal screening: new recommendations. The Hague: Health Council of the Netherlands, 2015; publication no. 2015/08 Shortly after birth, almost every
More informationSUMMARY COMPARISON OF NATIONAL PLANS AND PRACTICES. Domenica Taruscio
Presentation to the European Conference Rare Diseases Luxembourg, 21-22 June, 2005 SUMMARY COMPARISON OF NATIONAL PLANS AND PRACTICES Domenica Taruscio taruscio@iss.it http://www.cnmr.iss.it Co-ordinator
More informationFor the Ongoing Management of Babies under 1 year old.
Pathway Author: Nicy Turney, Senior Nurse Professional Lead, Health Visiting 19.06.17 For the Ongoing Management of Babies under 1 year old. Check Health Records (CHR) to undertake daily checks to identify:
More informationMEDICAL COVERAGE GUIDELINES ORIGINAL EFFECTIVE DATE: 12/19/17 SECTION: MEDICINE LAST REVIEW DATE: LAST CRITERIA REVISION DATE: ARCHIVE DATE:
MEDICAL FOODS Non-Discrimination Statement and Multi-Language Interpreter Services information are located at the end of this document. Coverage for services, procedures, medical devices and drugs are
More informationExpanded Carrier Screening: What s Best?
Expanded Carrier Screening: What s Best? James D Goldberg, MD September 17, 2017 Disclosures James D. Goldberg, M.D. Chief Medical Officer, Counsyl 3 Learning Objectives Guidelines Data Design Practice
More information2015 Annual Report for New Mexico s Newborn Screening (NBS) Program
2015 Annual Report for New Mexico s Newborn Screening (NBS) Program Sawyer-A Family s Story Inside this Edition A Family Story......1 Why Screen....4 When to Screen...4 What is NBS....5 Screened Conditions..5
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
Building 9 Contact: Dr Catherine Sturgeon BioQuarter Tel: +44 (0)131-2426885 Little France Road Fax: +44 (0)131-242-6882 E-Mail: c.sturgeon@ed.ac.uk Websites: http://edqas.org EH16 4UX Proficiency Testing
More informationIntroduction to Organic Acidemias. Hilary Vernon, MD PhD Assistant Professor of Genetic Medicine Johns Hopkins University 7.25.
Introduction to Organic Acidemias Hilary Vernon, MD PhD Assistant Professor of Genetic Medicine Johns Hopkins University 7.25.2014 A Brief Historical Overview Garrod, Archibald E. 1902. The Incidence of
More informationMedical Foods for Inborn Errors of Metabolism
Medical Foods for Inborn Errors of Metabolism Policy Number: Original Effective Date: MM.02.014 02/18/2000 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST 08/23/2013 Section: Medicine Place(s)
More informationNewborn Screening & Methods for Diagnosing Inborn Errors of Metabolism
Newborn Screening & Methods for Diagnosing Inborn Errors of Metabolism Patricia Jones, PhD DABCC FACB UT Southwestern Medical Center Children s Medical Center Dallas, Texas Learning Objectives Justify
More informationProposal for EXPANDED NEWBORN SCREENING
Proposal for EXPANDED NEWBORN SCREENING Tel:+971-4-4503875 Fax:+971-4-4503874 DuBiotech, P.O.Box 212671Dubai, UAE. Email: info@easternbiotech.com www.easternbiotech.com Winner of Dubai SME100 Ranked #19
More informationNutraHacker. Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d. Instructions:
NutraHacker Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d Instructions: In this report, NutraHacker examines single nucleotide polymorphisms that reveal carrier status
More informationThe Floppy Baby. Clare Betteridge
The Floppy Baby Clare Betteridge The floppy baby Identification Evaluation Investigation Diagnosis Examples What is a floppy baby? Elbows and knees loosely extended. Head control is usually poor or absent.
More informationGaucher disease 3/22/2009. Mendelian pedigree patterns. Autosomal-dominant inheritance
Mendelian pedigree patterns Autosomal-dominant inheritance Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Y-linked Examples of AD inheritance Autosomal-recessive inheritance
More informationNeonatal Hypotonia. Encephalopathy acute No encephalopathy. Neurology Chapter of IAP
The floppy infant assumes a frog legged position. On ventral suspension, the baby can not maintain limb posture against gravity and assumes the position of a rag doll. Encephalopathy acute No encephalopathy
More informationNewborn Screening in Washington State Saving lives with a simple blood spot
Newborn Screening in Washington State Saving lives with a simple blood spot Ashleigh Ragsdale, MPH Gauri Gupta, MScPH Objectives Newborn Screening Overview Process and Law Completing Collection Cards Video
More informationInborn Errors of Metabolism Clinical Approach to Diagnosis and Treatment
Case Scenario: 15 year old girl presented in ED with aggressive behaviour and hallucinations. No associated fever, vomiting, seizures or developmental concerns Previously well Inborn Errors of Metabolism
More informationCOMMON INHERITED METABOLIC CONDITIONS IN SOUTH AFRICA DIAGNOSING RARE DISEASE IN GENETICALLY UNIQUE AND UNDERSTUDIED POPULATION GROUPS
COMMON INHERITED METABOLIC CONDITIONS IN SOUTH AFRICA DIAGNOSING RARE DISEASE IN GENETICALLY UNIQUE AND UNDERSTUDIED POPULATION GROUPS S MELDAU, G VAN DER WATT INHERITED METABOLIC DISEASES GROUP UCT /
More informationNewborn Screening: What s New?
Newborn Screening: What s New? Patricia M. Jones, PhD (Department of Pathology, University of Texas Southwestern Medical Center and Children s Medical Center of Dallas, Dallas, TX) DOI: 10.1309/LMOOXWVPSM5FC3B6
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK University Hospitals NHS Foundation Trust, Level 1, The Women s Centre John Radcliffe Hospital University Hospitals NHS Foundation Trust OX3
More informationMEDICAL GENETICS CLINICAL CARE ROTATION
Medical Genetics Clinical Care Rotation 1 MEDICAL GENETICS CLINICAL CARE ROTATION Overview: The Medical Genetics Clinical Care Rotation (MGC) is the backbone of the clinical genetics experience for the
More informationCarrier Screening: How to be tested
Carrier Screening: How to be tested 1 in 20 people carry a gene change for cystic fibrosis, fragile X syndrome, or spinal muscular atrophy, but most people are unaware that they are carriers. Genetic carrier
More informationGeneral Approach to Genetic Testing
Protocol General Approach to Genetic Testing (20491) Medical Benefit Effective Date: 01/01/17 Next Review Date: 11/18 Preauthorization Yes Review Dates: 01/11, 01/12, 09/12, 05/13, 09/13, 09/14, 09/15,
More informationCLINICAL AND HUMAN TESTING
CLINICAL AND HUMAN TESTING CARRIER SCREENING FOR FAMILY PLANNING Let knowledge be your guide. Identify genetic conditions before or during a pregnancy to help predict the chances of having a child with
More informationUK Newborn Screening for X-ALD - progress from a lab perspective
UK Newborn Screening for X-ALD - progress from a lab perspective Mrs. Leila Cornes Senior Clinical Scientist, Newborn Screening Southmead Hospital, Bristol May 2016 C26:0-lysoPC C26:0-lysophosphatidylcholine
More informationGenomics and Genetics in Healthcare. By Mary Knutson, RN, MSN
Genomics and Genetics in Healthcare By Mary Knutson, RN, MSN Clinical Objectives Understand the importance of genomics to provide effective nursing care Integrate genetic knowledge and skills into nursing
More informationM-N. Neisseria gonorrhoeae. Neopterin, Serum. Analytik
Neisseria gonorrhoeae Background: Neisseria gonorrhoeae is a gram negative oxidase positive bacteria producing a lipooligosaccharide endotoxin which contains lipid A without long repeating sugar side chains.
More informationUtility of Microarrays in Molecular Genetics
Utility of Microarrays in Molecular Genetics Madhuri Hegde, Ph.D., FACMG Associate Professor Senior Director Department of Human Genetics Emory Genetics Laboratory Emory University School of Medicine Atlanta,
More informationCLINICAL GENETICS 1. GENERAL ASPECTS OF THE SPECIALISATION. 1.1 Purpose of the specialisation
CLINICAL GENETICS 1. GENERAL ASPECTS OF THE SPECIALISATION 1.1 Purpose of the specialisation The specialisation is an education and learning process in which trainee specialists (residents) acquire theoretical
More informationIdentifying Needs, Implementing Services in the Indiana Plain Community
Identifying Needs, Implementing Services in the Indiana Plain Community Chris Roberson, JD, MPH Director of Compliance & Community Programs The Indiana Hemophilia & Thrombosis Center Board of Directors
More informationHuman Genetic Diseases (Ch. 15)
Human Genetic Diseases (Ch. 15) 1 2 2006-2007 3 4 5 6 Genetic counseling Pedigrees can help us understand the past & predict the future Thousands of genetic disorders are inherited as simple recessive
More informationInformation for health professionals
Changes to the Newborn Bloodspot Screening Policy for Congenital Hypothyroidism (CHT) in Preterm Babies A UK policy change has been agreed that will mean changes to: which preterm babies require second
More informationA Brief History of Newborn Screening
A Brief History of Newborn Screening The first 50 years. Ken Pass I didn t do this alone Thanks to: Amy Hoffman Alex Kemper Kathy Harris Piero Rinaldo and others 1902 Liv Dag Asbjorn Follin Pediatrics
More informationPRE-PREGNANCY CARRIER SCREENING. What is it, how does it work and should future parents consider it?
PRE-PREGNANCY CARRIER SCREENING What is it, how does it work and should future parents consider it? Hi, we re Eugene. We started Eugene to create the healthcare experience we d want for ourselves and our
More informationGenetic diagnosis of limb girdle muscular dystrophy type 2A, A Case Report
Genetic diagnosis of limb girdle muscular dystrophy type 2A, A Case Report Roshanak Jazayeri, MD, PhD Assistant Professor of Medical Genetics Faculty of Medicine, Alborz University of Medical Sciences
More informationWhat s New in Newborn Screening?
What s New in Newborn Screening? Funded by: Illinois Department of Public Health Information on Newborn Screening Newborn screening in Illinois is mandated and administered by the Illinois Department of
More informationThe Many Lives of the Newborn Screening Dried Blood Spot (the LIFE CYCLE of a Blood Spot)
The Many Lives of the Newborn Screening Dried Blood Spot (the LIFE CYCLE of a Blood Spot) Piero Rinaldo, MD, PhD Professor of Laboratory Medicine T. Denny Sanford Professor of Pediatrics Mayo Clinic College
More informationNEONATAL SCREENING FOR INBORN ERRORS OF METABOLISM OUR EXPERIENCE AT CABRI, GULF MEDICAL UNIVERSITY
GMJ GULF MEDICAL JOURNAL ORAL PROCEEDINGS NEONATAL SCREENING FOR INBORN ERRORS OF METABOLISM OUR EXPERIENCE AT CABRI, GULF MEDICAL UNIVERSITY I.A. Shaafie 1 *, A.D. Vijay Raju 2, P.K. Menon 3 1Division
More informationE-IMD European registry and network for intoxication type metabolic diseases
E-IMD European registry and network for intoxication type metabolic diseases Johannes Häberle University Children s Hospital Zurich Luxembourg 26 October 2011 Intoxication type metabolic diseases E-IMD
More informationTesting Strategy for Inborn Errors of Metabolism in the Neonate Aditi I. Dagli, Roberto T. Zori and Bryce A. Heese. DOI: /neo.
Testing Strategy for Inborn Errors of Metabolism in the Neonate Aditi I. Dagli, Roberto T. Zori and Bryce A. Heese Neoreviews 2008;9;e291 DOI: 10.1542/neo.9-7-e291 The online version of this article, along
More informationThe spectrum and outcome of the. neonates with inborn errors of. metabolism at a tertiary care hospital
The spectrum and outcome of the neonates with inborn errors of metabolism at a tertiary care hospital Dr. Sevim Ünal Neonatology Division, Ankara Children s Hematology Oncology Research Hospital, Ankara,
More informationForesight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: OG-510 Saliva Date of Collection: 06/23/2017 Date Received: 06/28/2017 Date Tested: 06/28/2017 Indication:
More information