Riunione Regionale SIN Campania
|
|
|
- Stephen Morton
- 5 years ago
- Views:
Transcription
1 Riunione Regionale SIN Campania Dott.ssa Maria Lieto Dipartimento di Neuroscienze, Università Federico II Napoli Salerno, 14 dicembre 2018
2 HEREDITARY ATAXIAS SCAs (35 genes) ARCAs (94 genes) Diagnosis?
3 Ataxia: From Linkage analyses to NGS Timeline of the discovery of genes involved in hereditary spinocerebellar ataxia (Galatolo et al. 2017)
4 Next generation sequencing and Ataxia: the state of art Target Resequencing Panels (TRP) Exome Sequencing (ES) Whole Genome Sequencing (WGS)
5 Our Project To use NGS strategies (Target Resequencing Panel, Exome Sequencing, Whole Genome Sequencing) to define the molecular characterization of a group of 106 patients with undiagnosed ataxia
6 Patients and Methods Clinical evaluation Diagnostic evaluation Causes of secondary ataxias were ruled out Initial genetic screenin g Patients were tested for pathological CAG repeats in SCA genes and for the intronic GAA expansion in FXN 106 patients
7 Patients and Methods Diagnosis Target Resequenci ng Panel A gene panel containing 273 genes known or supposed to be related to hereditary ataxias was created using SureDesign Exome Sequencing Whole Genome Sequencing
8 Data Analysis: Filtering Using software SureCall which allows to align sequence raw data with reference human genome sequence Filtering Variant s Sanger validatio n Variants found are analyzed using Ingenuity variant analysis and filtered Call quality <30 Read depth <20 Frequency > 1% False positives (variants shared by more than 3 samples or more) Results Algorithms SIFT e PolyPhen2 for missens mutations, NeteGene2 e BDGP for splicing variants
9 Data Analysis: Variants Filtering Variants Confirmed pathogenic variants Variants of uncertain significance (VOUS) Sanger validation No candidate variants or variants with unlikely pathogenicity (Incidental findings) Results
10 Data Analysis: The State of Art Not analyzed yet Definite Possible/VOUS Unlikely pathogenic Total: 106 cases
11 Preliminary Results from Target Resequencing Panel: Confirmed Pathogenic Variants Others: RNF216, ZFYVE26, ANO10, PMM2, TGM6, ATP13A2, SCL2A1 TOTAL 20
12 SPG7 paraplegin
13 Onset 38 y (10-63) SPG7 paraplegin Autosomal recessive Spasticity NOT CONSTANT Ataxia Peripheral Neuropathy ABSENT Optic atrophy OCT
14 Onset < 8 y Boucher-Neuhäuser/SPG39 PNPLA6 Autosomal recessive Ataxia Peripheral Neuropathy Pyramidal sign Chorioretinal dystrophy Hypogonadism
15 Onset 22y (6-40) ARCA1/BEAUCE ATAXIA/SCAR8 SYNE1/Nesprin1 Autosomal recessive Pure Ataxia 20% Ataxia plus 80% Motor neuron Brainstem Mental retardation Skeletal deformities
16 Onset 0-20 y ARCA2 COQ8A/ADCK3/CABC1 Autosomal recessive Ataxia Spasticity Dystonia/tremor/myoclonus Migraine Cognitive.Epilepsy Treatable Q10 Peripheral neuropathy absent
17 Preliminary Results from Target Resequencing Panel: Variants of Uncertain Significance (VOUS) SCL2A1 ADCK3 Others Others: KIF1C, PRKCG, KCND3, HARS TOTAL: 48
18 SCL2A1/GLUT1 De novo mutation /Autosomal dominant Autosomal recessive Gait abnormalities (ataxia, spastic ataxia) Dysarthria Infantile epilepsy Dystonia, tremor, myoclonus Developmental delay
19 Next Future To analyze remaining data from TRP To complete the investigation through ES and WGS and TRIOS study Hoping to increase the diagnostic yield!
20
variant led to a premature stop codon p.k316* which resulted in nonsense-mediated mrna decay. Although the exact function of the C19L1 is still
157 Neurological disorders primarily affect and impair the functioning of the brain and/or neurological system. Structural, electrical or metabolic abnormalities in the brain or neurological system can
CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY
CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY More genetic information requires cutting-edge interpretation techniques Whole Exome Sequencing For certain patients the combination of symptoms does not allow
CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY
CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY More genetic information requires cutting-edge interpretation techniques Whole Exome Sequencing For some patients, the combination of symptoms does not allow
Update on the Genetics of Ataxia. Vicki Wheelock MD UC Davis Department of Neurology GHPP Clinic
Update on the Genetics of Ataxia Vicki Wheelock MD UC Davis Department of Neurology GHPP Clinic Outline Definitions Review of genetics Autosomal Dominant cerebellar ataxias Autosomal Recessive cerebellar
Exploring hereditary ataxia and spasticity in the era of whole exome sequencing
Universiteit Antwerpen Faculteit Geneeskunde en Gezondheidswetenschappen Exploring hereditary ataxia and spasticity in the era of whole exome sequencing Proefschrift voorgelegd tot het behalen van de graad
NGS in neurodegenerative disorders - our experience
Neurology Clinic, Clinical Center of Serbia Faculty of Medicine, University of Belgrade Belgrade, Serbia NGS in neurodegenerative disorders - our experience Marija Branković, MSc Belgrade, 2018 Next Generation
Variant Detection & Interpretation in a diagnostic context. Christian Gilissen
Variant Detection & Interpretation in a diagnostic context Christian Gilissen c.gilissen@gen.umcn.nl 28-05-2013 So far Sequencing Johan den Dunnen Marja Jakobs Ewart de Bruijn Mapping Victor Guryev Variant
Genetics of Hereditary Spastic Paraplegia Dr. Arianna Tucci
Genetics of Hereditary Spastic Paraplegia 1 Clinical Research Fellow Institute of Neurology University College London Hereditary spastic paraplegia: definition Clinical designation for neurologic syndromes
Genetic Testing for Neurologic Disorders
Genetic Testing for Neurologic Disorders MP9497 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes as shown below Pre- and post-test genetic counseling
Movement disorders in childhood: assessment and diagnosis. Lucinda Carr
Movement disorders in childhood: assessment and diagnosis Lucinda Carr Movement disorders in childhood: Assessment Classification Causes Diagnosis Presentation of movement disorders in childhood: Concerns
Molecular Diagnosis of Genetic Diseases: From 1 Gene to 1000s
ROMA, 23 GIUGNO 2011 Molecular Diagnosis of Genetic Diseases: From 1 Gene to 1000s USSD Lab Genetica Medica Ospedali Riuniti Bergamo The problem What does the clinician/patient want to know?? Diagnosis,
Benefits and pitfalls of new genetic tests
Benefits and pitfalls of new genetic tests Amanda Krause Division of Human Genetics, NHLS and University of the Witwatersrand Definition of Genetic Testing the analysis of human DNA, RNA, chromosomes,
Genetic Counselling in relation to genetic testing
Genetic Counselling in relation to genetic testing Dr Julie Vogt Consultant Geneticist West Midlands Regional Genetics Service September 2016 Disclosures for Research Support/P.I. Employee Consultant Major
Advances in genetic diagnosis of neurological disorders
Acta Neurol Scand 2014: 129 (Suppl. 198): 20 25 DOI: 10.1111/ane.12232 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ACTA NEUROLOGICA SCANDINAVICA Review Article Advances in genetic diagnosis
Clinical Spectrum and Genetic Mechanism of GLUT1-DS. Yasushi ITO (Tokyo Women s Medical University, Japan)
Clinical Spectrum and Genetic Mechanism of GLUT1-DS Yasushi ITO (Tokyo Women s Medical University, Japan) Glucose transporter type 1 (GLUT1) deficiency syndrome Mutation in the SLC2A1 / GLUT1 gene Deficiency
MNG Exome Sequencing Test Request Form
Whole Exome Sequencing MNG Exome Sequencing Test Request Form Note: Clinical Information and Consent Form are required for MNG Exome Orders. IMPORTANT: Please note if any additional samples will be shipped
HEREDITARY ATAXIAS (HA)
HEREDITARY ATAXIAS (HA) Elison Sarapura-Castro January 11, 2018 OUTLINE Background Causes of ataxia and classification of HA SCAs Diagnostic workup Final Remarks BACKGROUND 25 years ago, ATAXIA: Abscense
Whole Exome Sequencing (WES) Whole Exome Sequencing. What Is Whole Exome Sequencing?
Whole Exome Sequencing (WES) Procedure(s) addressed by this policy: Exome (e.g., unexplained constitutional or heritable disorder or syndrome); sequence analysis Sequence analysis, each comparator exome
Case presentations from diagnostic exome sequencing results in ion channels M. Koko, U. Hedrich, H. Lerche DASNE meeting 2017, Eisenach
Case presentations from diagnostic exome sequencing results in ion channels M. Koko, U. Hedrich, H. Lerche DASNE meeting 2017, Eisenach CASE 1: Clinical picture Patient s presentation: 38 year old jewish
Genetics and Genomics: Applications to Developmental Disability
Tuesday, 12:30 2:00, B1 Objective: Genetics and Genomics: Applications to Developmental Disability Helga Toriello 616-234-2712 toriello@msu.edu Identify advances in clinical assessment and management of
The Patient Perspective: diagnostic Exome Sequencing
1 2 Hello, I m Teresa Kruisselbrink, genetic counselor in the Center of Individualized Medicine. 3 I have nothing to disclose. 4 The title of my talk, The patient perspective; diagnostic whole exome sequencing,
MNGenome Sequencing Test Request Form
MNGenome Sequencing Test Request Form Whole Whole Genome Exome Sequencing Note: Clinical Information and Consent Form are required for MNGenome Orders. *Please note if samples are shipping separately as
Postnatal Exome Sequencing
Postnatal Exome Sequencing Ata Bushehri, MD, PhD candidate Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran Genetic Counseling Overview Pattern of Inheritance
Movement Disorders Requisition Form
Movement Disorders Requisition Form The University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room G701/MC0077, Chicago, IL 60637 Toll Free: 888.824.3637 Local: 773.834.0555 Fax:
Reporting TP53 gene analysis results in CLL
Reporting TP53 gene analysis results in CLL Mutations in TP53 - From discovery to clinical practice in CLL Discovery Validation Clinical practice Variant diversity *Leroy at al, Cancer Research Review
Genetic causes 90% Other causes 10% No variants are found in known genes associated with ADPKD
CLINICIAN PRODUCT SHEET Genome.One Polycystic Kidney Disease Test Genome.One offers a diagnostic genetic test for patients with polycystic kidney disease (PKD), with a focus on the most common form, autosomal
Frontiers in Personalized Medicine. PW-GW-AS DNA sequencing Reverse human genetics
Frontiers in Personalized Medicine PW-GW-AS DNA sequencing Reverse human genetics Published Genome-Wide Associations through 06/2011, 1,449 published GWA at p 5x10-8 for 237 traits NHGRI GWA Catalog www.genome.gov/gwastudies
Implementation of the DDD/ClinGen OGT (CytoSure v3) Microarray
Implementation of the DDD/ClinGen OGT (CytoSure v3) Microarray OGT UGM Birmingham 08/09/2016 Dom McMullan Birmingham Women's NHS Trust WM chromosomal microarray (CMA) testing Population of ~6 million (10%)
Genetic mates SNPedia write-ups Final Next-gen sequencing Mike Snyder QA: new technology and the future
Genetic mates SNPedia write-ups Final Next-gen sequencing Mike Snyder QA: new technology and the future Genetic Mates Jonathan Mortensen/Francisco Gimenez Will need class to upload data Tuesday night Analyze
How genomics can help identify undiagnosed and misdiagnosed diseases David Bick, MD
How genomics can help identify undiagnosed and misdiagnosed diseases David Bick, MD Medical Director, Smith Family Clinic for Genomic Medicine, LLC Associate Director, HudsonAlpha Clinical Services Laboratory,
Welcome to the Genetic Code: An Overview of Basic Genetics. October 24, :00pm 3:00pm
Welcome to the Genetic Code: An Overview of Basic Genetics October 24, 2016 12:00pm 3:00pm Course Schedule 12:00 pm 2:00 pm Principles of Mendelian Genetics Introduction to Genetics of Complex Disease
USEFULNESS OF ONTOLOGIES FOR RARE DISEASES
USEFULNESS OF ONTOLOGIES FOR RARE DISEASES M a n u e l P o s a d a, Ve r ó n i c a A l o n s o a n d E s t r e l l a L ó p e z M a r t í n I n s t i t u t e o f R a r e D i s e a s e s R e s e a r c h
CASE REPORT. Abstract. Introduction. Case Report
CASE REPORT Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia
Advance Your Genomic Research Using Targeted Resequencing with SeqCap EZ Library
Advance Your Genomic Research Using Targeted Resequencing with SeqCap EZ Library Marilou Wijdicks International Product Manager Research For Life Science Research Only. Not for Use in Diagnostic Procedures.
Key determinants of pathogenicity
Key determinants of pathogenicity Session 6: Determining pathogenicity and genotype-phenotype correlation J. Peter van Tintelen MD PhD Clinical geneticist Academic Medical Center Amsterdam, the Netherlands
Exploding Genetic Knowledge in Developmental Disabilities. Disclosures. The Genetic Principle
Exploding Genetic Knowledge in Developmental Disabilities How to acquire the data and how to make use of it Elliott H. Sherr MD PhD Professor of Neurology & Pediatrics UCSF Disclosures InVitae: clinical
LOCALIZATION NEUROLOGY EPISODE VI HEARING LOSS AND GAIT ATAXIA
LOCALIZATION NEUROLOGY EPISODE VI HEARING LOSS AND GAIT ATAXIA EPISODE VI HEARING LOSS APPROACH and DIAGNOSIS 2 Cochlea and Auditory nerve Pons (superior olive) lateral lemniscus Inferior colliculus Thalamus
MutationTaster & RegulationSpotter
MutationTaster & RegulationSpotter Pathogenicity Prediction of Sequence Variants: Past, Present and Future Dr. rer. nat. Jana Marie Schwarz Klinik für Pädiatrie m. S. Neurologie Exzellenzcluster NeuroCure
Improving genomic diagnoses through accurate, specific phenotype information
Improving genomic diagnoses through accurate, specific phenotype information Lisa Ewans Clinical Geneticist, RPAH, Sydney PhD student in genomics, KCCG, Garvan; UNSW https://vlab.org Overview Phenotype
Natural History of JNCL and other NCLs
Natural History of JNCL and other NCLs Jonathan W. Mink, MD PhD Departments of Neurology, Neurobiology & Anatomy, Brain & Cognitive Sciences, and Pediatrics University of Rochester Neuronal Ceroid Lipofuscinosis
Cryptogenic Cirrhosis: An Approach To The Diagnosis In The Era Of Molecular and Genomic Medicine
Cryptogenic Cirrhosis: An Approach To The Diagnosis In The Era Of Molecular and Genomic Medicine Introduction and historical perspective: Cryptogenic cirrhosis(cc) is defined as cases of cirrhosis where
The Promise of Epilepsy Genetics A Personal & Scientific Perspective December 3, 2012
The Promise of Epilepsy Genetics A Personal & Scientific Perspective December 3, 2012 Tracy Dixon-Salazar, Ph.D. University of California, San Diego American Epilepsy Society Annual Meeting 1 Disclosure
NGS panels in clinical diagnostics: Utrecht experience. Van Gijn ME PhD Genome Diagnostics UMCUtrecht
NGS panels in clinical diagnostics: Utrecht experience Van Gijn ME PhD Genome Diagnostics UMCUtrecht 93 Gene panels UMC Utrecht Cardiovascular disease (CAR) (5 panels) Epilepsy (EPI) (11 panels) Hereditary
EXAMPLE OF A SUCCESSFUL R&D COLLABORATION: THE RIBERMOV LATIN-AMERICAN NETWORK ON MOVEMENT DISORDERS.
EXAMPLE OF A SUCCESSFUL R&D COLLABORATION: THE RIBERMOV LATIN-AMERICAN NETWORK ON MOVEMENT DISORDERS. Antoni Matilla Dueñas Director Functional and Translational Neurogenetics Unit RIBERMOV Coordinator
A CASE OF GIANT AXONAL NEUROPATHY HEMANANTH T SECOND YEAR POST GRADUATE IN PAEDIATRICS INSTITUTE OF SOCIAL PAEDIATRICS GOVERNMENT STANLEY HOSPITAL
A CASE OF GIANT AXONAL NEUROPATHY HEMANANTH T SECOND YEAR POST GRADUATE IN PAEDIATRICS INSTITUTE OF SOCIAL PAEDIATRICS GOVERNMENT STANLEY HOSPITAL CASE HISTORY Nine year old male child Second born Born
MP Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders
Medical Policy BCBSA Ref. Policy: 2.04.102 Last Review: 10/18/2018 Effective Date: 10/18/2018 Section: Medicine Related Policies 2.04.59 Genetic Testing for Developmental Delay/Intellectual Disability,
NGS Types of gene dossier applications UKGTN can evaluate
NGS Types of gene dossier applications UKGTN can evaluate Jo Whittaker on behalf of the Genetic Test Evaluation Working Group & UKGTN Project team NGS used in a number of ways Replacement technology for
Learning Objectives. Genomic Medicine and Primary Care. Clinical Applications of Genome-Level DNA Sequencing. Molecular Medicine.
Presenter Disclosure Information 9:45 10:25am Genomic Medicine and Primary Care SPEAKER Wayne W. Grody, MD, PhD, FACMG, FCAP The following relationships exist related to this presentation: Wayne W. Grody,
CHAPTER IV RESULTS Microcephaly General description
47 CHAPTER IV RESULTS 4.1. Microcephaly 4.1.1. General description This study found that from a previous study of 527 individuals with MR, 48 (23 female and 25 male) unrelated individuals were identified
Identifying genetic variants associated with rare Mendelian diseases: case studies
Identifying genetic variants associated with rare Mendelian diseases: case studies Jingga Inlora Stanford University Genetics Department (Snyder la) inloraj@stanford.edu 5 3 2017 Outline Case #1: Isolated
Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes
Short Communication doi: 10.1111/j.1469-1809.2009.00507.x Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes Lúcia Inês Macedo-Souza
An approach to movement disorders. Kailash Bhatia, DM, FRCP Professor of Clinical Neurology Institute of Neurology Queen Square, London
An approach to movement disorders Kailash Bhatia, DM, FRCP Professor of Clinical Neurology Institute of Neurology Queen Square, London Neurology Diagnosis Two main questions: What parts of the nervous
Molecular Diagnostic Laboratory 18 Sequencing St, Gene Town, ZY Tel: Fax:
Molecular Diagnostic Laboratory 18 Sequencing St, Gene Town, ZY 01234 Tel: 555-920-3333 Fax: 555-920-3334 www.moldxlaboratory.com Patient Name: Jane Doe Specimen type: Blood, peripheral DOB: 04/05/1990
Gaucher 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
How many disease-causing variants in a normal person? Matthew Hurles
How many disease-causing variants in a normal person? Matthew Hurles Summary What is in a genome? What is normal? Depends on age What is a disease-causing variant? Different classes of variation Final
Referring Physician Information Name: (Last, First, Middle):
Page 1 of 5 Patient Information Clinical Indication: Patient Name: (Last, First, Middle): DOB (M/D/Y): Sex: M F Guardian Name (for minor patients only): Address: City: State: ZIP: Phone: Ethnic Background
Protocol. Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders
Whole Exome and Whole Genome Sequencing for Diagnosis of (204102) Medical Benefit Effective Date: 07/01/17 Next Review Date: 03/18 Preauthorization No Review Dates: 03/17 This protocol considers this test
The Deciphering Development Disorders (DDD) project: What a genomic approach can achieve
The Deciphering Development Disorders (DDD) project: What a genomic approach can achieve RCP ADVANCED MEDICINE, LONDON FEB 5 TH 2018 HELEN FIRTH DM FRCP DCH, SANGER INSTITUTE 3,000,000,000 bases in each
Identifying Mutations Responsible for Rare Disorders Using New Technologies
Identifying Mutations Responsible for Rare Disorders Using New Technologies Jacek Majewski, Department of Human Genetics, McGill University, Montreal, QC Canada Mendelian Diseases Clear mode of inheritance
Clinical Summaries. CLN1 Disease, infantile onset and others
Clinical Summaries CLN1 Disease, infantile onset and others The gene called CLN1 lies on chromosome 1. CLN1 disease is inherited as an autosomal recessive disorder, which means that both chromosomes carry
CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi
2 CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE Dr. Bahar Naghavi Assistant professor of Basic Science Department, Shahid Beheshti University of Medical Sciences, Tehran,Iran 3 Introduction Over 4000
Whole exome sequencing as a first line test: Is there even a role for metabolic biochemists in the future?
Whole exome sequencing as a first line test: Is there even a role for metabolic biochemists in the future? Tony Marinakii Purine Research Laboratory Biochemical Sciences Whole exome sequencing No doubt
Flexible gene panels are essential for personalised genetic testing
Flexible gene panels are essential for personalised genetic testing Stephen Abbs East Anglian Medical Genetics Service Cambridge University Hospitals NHS Foundation Trust Clinical exome sequencing GEMINI
Analysis with SureCall 2.1
Analysis with SureCall 2.1 Danielle Fletcher Field Application Scientist July 2014 1 Stages of NGS Analysis Primary analysis, base calling Control Software FASTQ file reads + quality 2 Stages of NGS Analysis
Autosomal recessive hereditary spastic paraplegia clinical and genetic characteristics of a well-defined cohort
DOI 10.1007/s10048-013-0366-9 ORIGINAL ARTICLE Autosomal recessive hereditary spastic paraplegia clinical and genetic characteristics of a well-defined cohort G. Yoon & B. Baskin & M. Tarnopolsky & K.
CITATION FILE CONTENT/FORMAT
CITATION For any resultant publications using please cite: Matthew A. Field, Vicky Cho, T. Daniel Andrews, and Chris C. Goodnow (2015). "Reliably detecting clinically important variants requires both combined
RACP Congress 2017 Genetics of Intellectual Disability and Autism: Past Present and Future 9 th May 2017
RACP Congress 2017 Genetics of Intellectual Disability and Autism: Past Present and Future 9 th May 2017 Why causation? Explanation for family Prognosis Recurrence risk and reproductive options Guide medical
Canada's path forward for rare diseases: Discovery to translation Kym Boycott PhD, MD, FRCPC, FCCMG
Canada's path forward for rare diseases: Discovery to translation Kym Boycott PhD, MD, FRCPC, FCCMG Clinician Scientist, University of Ottawa, Canada In Canada ~250,000 Canadian children have a rare genetic
Systematizing in vivo modeling of pediatric disorders
Systematizing in vivo modeling of pediatric disorders Nicholas Katsanis, Ph.D. Duke University Medical Center Center for Human Disease Modeling Rescindo Therapeutics www.dukegenes.org Task Force for
TPMI Presents: Translational Genomics Research Update, Opportunities and Challenges
TPMI Presents: Translational Genomics Research Update, Opportunities and Challenges April 12, 2016 Darren D. O Rielly, Ph.D., FCCMG Director, Molecular Genetics Laboratory, Eastern Health Director, Translational
GENETICS AND TREATMENT OF DYSTONIA
GENETICS AND TREATMENT OF DYSTONIA Oksana Suchowersky, M.D., FRCPC, FCCMG Professor of Medicine, Medical Genetics, and Psychiatry Toupin Research Chair in Neurology DYSTONIA Definition: abnormal sustained
Comprehensive Phenotype of the p.arg420his Allelic Form of Spinocerebellar Ataxia Type 13
Cerebellum (2013) 12:932 936 DOI 10.1007/s12311-013-0507-6 ORIGINAL PAPER Comprehensive Phenotype of the p.arg420his Allelic Form of Spinocerebellar Ataxia Type 13 SH Subramony & Joel Advincula & Susan
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy
Hamdan et al., Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy Supplementary Information Gene screening and bioinformatics PCR primers
SETPEG GENETIC TESTING GUIDELINES Version 1.0, 5 th October 2017
SETPEG GENETIC TESTING GUIDELINES Version 1.0, 5 th October 2017 1. The Epilepsy Genetic Diagnostic & Counselling Service at King s Health Partners Professor Deb Pal PhD MRCP (Consultant) deb.pal@nhs.net
Role of next generation sequencing in clinical care
Role of next generation sequencing in clinical care Anne Slavotinek Division of Genetics, Department of Pediatrics, UCSF Structure 1. Next generation technologies 2. Consent and secondary findings 3. Genetics
CNNH NeuroGenomics Program Peer-to-Peer Service Consent/Information Form
CNNH NeuroGenomics Program Peer-to-Peer Service Consent/Information Form WHO WEARE The Center for Neurological and Neurodevelopmental Health (CNNH) is an innovative patient- and family-centered "Specialty
Personalis ACE Clinical Exome The First Test to Combine an Enhanced Clinical Exome with Genome- Scale Structural Variant Detection
Personalis ACE Clinical Exome The First Test to Combine an Enhanced Clinical Exome with Genome- Scale Structural Variant Detection Personalis, Inc. 1350 Willow Road, Suite 202, Menlo Park, California 94025
Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders
Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders Policy Number: 2.04.102 Last Review: 12/2017 Origination: 12/2015 Next Review: 12/2018 Policy Blue Cross and Blue Shield of Kansas
Van test naar diagnose naar
Van test naar diagnose naar V therapie op maat Marjolein Kriek, LUMC Joris Veltman, RUNMC Exome diagnostics in genetically heterogeneous disease Joris Veltman, PhD Department of Human Genetics Radboud
Analysis of Massively Parallel Sequencing Data Application of Illumina Sequencing to the Genetics of Human Cancers
Analysis of Massively Parallel Sequencing Data Application of Illumina Sequencing to the Genetics of Human Cancers Gordon Blackshields Senior Bioinformatician Source BioScience 1 To Cancer Genetics Studies
Clinical Genetics. Functional validation in a diagnostic context. Robert Hofstra. Leading the way in genetic issues
Clinical Genetics Leading the way in genetic issues Functional validation in a diagnostic context Robert Hofstra Clinical Genetics Leading the way in genetic issues Future application of exome sequencing
Mr. Glenn McGuirk Centers for Medicare and Medicaid Services 7500 Security Boulevard Baltimore, MD 21244
August 6, 2018 Mr. Glenn McGuirk Centers for Medicare and Medicaid Services 7500 Security Boulevard Baltimore, MD 21244 Submitted via email: glenn.mcguirk@cms.hhs.gov Dear Mr. McGuirk, The American Clinical
SELECTIVE VULNERABILITY (HYPOXIA AND HYPOGLYCEMIA)
DEFICIENCY OF METABOLITE -HYPOXIA AND HYPOGLYCEMIA -HYPOVITAMINOSIS SELECTIVE VULNERABILITY (HYPOXIA AND HYPOGLYCEMIA) -SPECIFIC CELL TYPE NEURONS>OLIGODENDROCYTES>ASTROCYTES -SPECIFIC BRAIN REGION PYRAMIDAL
NGS in neurodegenerative disorders. Our first experience
NGS in neurodegenerative disorders Our first experience Milena Jankovic, PhD Laboratory for genetic and molecular diagnostic of neurological disorders Neurology Clinic, Clinical Center of Serbia University
Genetic 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
Frequency and phenotype of SPG11 and SPG15 in complicated spastic paraplegia (HSP)
Frequency and phenotype of SPG11 and SPG15 in complicated spastic paraplegia (HSP) Rebecca Schüle, Nina Schlipf, Matthis Synofzik, Stefan Klebe, Sven Klimpe, Ute Hehr, Beate Winner, Tobias Lindig, Andrea
Presentation and investigation of mitochondrial disease in children
Presentation and investigation of mitochondrial disease in children Andrew Morris Willink Unit, Manchester Mitochondrial function Carbohydrate Fat Respiratory chain Energy Mitochondria are the product
EYE POSITION FEEDBACK IN A MODEL OF THE VESTIBULO-OCULAR REFLEX FOR SPINO-CEREBELLAR ATAXIA 6
EYE POSITION FEEDBACK IN A MODEL OF THE VESTIBULO-OCULAR REFLEX FOR SPINO-CEREBELLAR ATAXIA 6 J. H. Anderson 1, M. C. Yavuz 2, B. M. Kazar 3, P. Christova 1, C. M. Gomez 4 1 Department of Otolaryngology,
EPIDEMIOLOGY AND CLASSIFICATION OF MOVEMENT DISORDERS
EPIDEMIOLOGY AND CLASSIFICATION OF MOVEMENT DISORDERS Njideka U. Okubadejo Professor & Consultant Neurologist College of Medicine, University of Lagos & Lagos University Teaching Hospital, Lagos State,
Genome Summary. Sequencing Coverage: Variation Counts: Known Phenotype Summary: 106 disease or trait variations are found in this genome
Report Date: August 24, 2016 Software Annotation Version: 8 Genome Summary Name: (unknown) Genome ID: GFG_filtered_unphased_genotypes Sequencing Provider: (unknown) Sequencing Type: (unknown) Sequencing
6/12/2018. Disclosures. Clinical Genomics The CLIA Lab Perspective. Outline. COH HopeSeq Heme Panels
Clinical Genomics The CLIA Lab Perspective Disclosures Raju K. Pillai, M.D. Hematopathologist / Molecular Pathologist Director, Pathology Bioinformatics City of Hope National Medical Center, Duarte, CA
Germline Testing for Hereditary Cancer with Multigene Panel
Germline Testing for Hereditary Cancer with Multigene Panel Po-Han Lin, MD Department of Medical Genetics National Taiwan University Hospital 2017-04-20 Disclosure No relevant financial relationships with
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Epileptic encephalopathy, early infantile 4. OMIM number for disease 612164 Disease
MITOCHONDRIAL DISEASE. Amel Karaa, MD Mitochondrial Disease Program Massachusetts General Hospital
MITOCHONDRIAL DISEASE Amel Karaa, MD Mitochondrial Disease Program Massachusetts General Hospital Disclosures & Disclaimers United Mitochondrial Disease Foundation Research Grant North American Mitochondrial
Heartland Genetics and Newborn Screening Collaborative Conference
Heartland Genetics and Newborn Screening Collaborative Conference Laurel K. Willig, MD Assistant Medical Director for the Center for Pediatric Genomic Medicine and Joshua E. Petrikin, MD Director of Neonatal
Article publié le 12 juin 2015 et tiré de BMC Medical Genetics
Article publié le 12 juin 2015 et tiré de BMC Medical Genetics Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia Wahiba Hamza1, Lamia Ali Pacha23, Tarik
Neurogenetics Genetic Testing and Ethical Issues
Neurogenetics Genetic Testing and Ethical Issues Grace Yoon, MD, FRCP(C) Divisions of Neurology and Clinical and Metabolic Genetics The Hospital for Sick Children Objectives 1) To recognize the ethical
GENOTYPE-PHENOTYPE CORRELATIONS IN GALACTOSEMIA COMPLICATIONS COMPLICATIONS COMPLICATIONS LONG-TERM CHRONIC COMPLICATIONS WITH NO CLEAR CAUSE
Galactosemia Deficiency: galactose-1-phosphate-uridyltransferase(galt) GENOTYPE-PHENOTYPE CORRELATIONS IN GALACTOSEMIA GALT D-galactose-1-phosphate UDPgalactose + + UDPglucose D-glucose-1-phosphate DIVISION
Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing M. DawnTeare and Mauro F.
BRIEFINGS IN FUNCTIONAL GENOMICS. VOL 13. NO 5. 378^383 doi:10.1093/bfgp/elu024 Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing M. DawnTeare and Mauro
Genetic Testing and Analysis. (858) MRN: Specimen: Saliva Received: 07/26/2016 GENETIC ANALYSIS REPORT
GBinsight Sample Name: GB4411 Race: Gender: Female Reason for Testing: Type 2 diabetes, early onset MRN: 0123456789 Specimen: Saliva Received: 07/26/2016 Test ID: 113-1487118782-4 Test: Type 2 Diabetes