Objectives. Genetics and Rett syndrome: As easy as apple pie! Chromosome to gene to protein
|
|
- Winifred Phillips
- 5 years ago
- Views:
Transcription
1 Genetics and Rett syndrome: As easy as apple pie! Victoria Mok Siu M.D., FRCPC, FCCMG ORSA conference Ottawa April 24, 2016 Objectives Review chromosomes and genes Understand s Explore the reasons behind the wide variation in features of Rett syndrome Understand the challenges of gene-based therapy Chromosome to gene to protein Rett syndrome is a GENETIC condition because it is caused by a change in a gene Rett syndrome is usually NOT INHERITED The Cookbook analogy 46 chromosomes, ~22,000 genes MeCP2 1
2 Variations in our genes make us each unique! DNA Gene Protein TV program analogy commercial DNA exon intron splice site promoter TV program RNA Commercial free program after splicing! protein amino acids Over 99% of time, Rett syndrome is due to a new typo (de novo ) If the arose at the time of formation of the egg or sperm, risk to have another child with Rett syndrome is the same as the population risk Many roles of MeCP2 methylation Turns genes off Organizes genes Turns genes on Brings genes together 2
3 Many roles: Spectrum of features in individuals with RTT Classic Rett syndrome Variant Rett syndrome Mild learning disabilities (females) or neonatal encephalopathy and syndromic or nonsyndromic intellectual disability (males) Why the differences? 1. Mutations are like typos 1. The 2. Boys vs girls 3. X-inactivation 4. Tissue distribution 5. Other genes What is the change? A substitution A girl with Rett syndrome nutmeg cinnamon not too bad! R133C The amino acid arginine (Arg or R) At position 133 in the protein Has become a cysteine (Cys or C) pommes pommes de terre Preserved speech variant (phenotype-genotype correlation) 3
4 Premature stop A girl with Rett syndrome R168X The amino acid arginine (R) At position 168 in the protein Has become a stop codon (X) Missing the last step: Bake in oven at 350F An addition of a letter A girl with Rett syndrome: Mix the sugar and apples in the bowl. Mix the sugar and dapple si nth ebow l. Results in a shift of the reading frame (frameshift) and everything afterwards does not make sens. In the cdna sequence c. 1189insA At position 1189 An A has been inserted Mutations are like typos 2. Boys vs. girls Where is the change? The Y chromosome contains very few important genes! Binding sites are important 4
5 3. X-inactivation Females don`t need to use all the genes on both X chromosomes! early in embryonic life, one X in each cell in a female is inactivated (Barr body) through methylation (=an epigenetic modification) X-inactivation In some cells, the X with the normal gene is active and in others, the X with the is active What is the ratio in the brain, the gut, the blood cells? This will presumably determine the degree to which these systems are affected 4. Mosaicism for MeCP2 The may have arisen AFTER conception and only be present in a percentage of cells The presence of some cells with 2 normal MeCP2 genes may result in less severe features 5
6 Why does the occasional family have more than one child with Rett syndrome? Gonadal (germline) mosaicism No No a may have arisen only in the reproductive organ of a parent (gonad) no effect on the individual but risk for recurrence in offspring Gonadal mosaicism 5. Other genes with RTT features Looks like apple pie but this is peach pie! Genetic counselling aids Greenwood Genetic Centre CDKL5 The same phenotype (appearance) but a different gene CDKL5 features sound familiar? Seizures early onset before 5 months- difficult to treat Absent speech Hand wringing Slowing of head growth Small cold feet Toothgrinding Air swallowing Heart long QT, heartrate too fast or too slow X-linked 6
7 MeCP2 duplication The gene products interact Hypotonia Progressive spasticity No speech Recurrent respiratory infections Seizures Affects males more severely than females Angelman syndrome Unsteady gait Frequent laughing, smiling, and excitability. Microcephaly Seizures FOXG1 s Onset of Rett syndrome features from birth No regression Usually don t show loss of milestones Pitt-Hopkins syndrome intellectual disability hyperventilation recurrent seizures (epilepsy) distinctive facial features. typically do not develop speech fetal fingertip pads Diagnosis of Rett syndrome and related disorders Sequencing of specific gene Targeted gene panels Rett and atypical Rett Epilepsy panels Developmental delay panels 7
8 8
Corporate Medical Policy
Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_rett_syndrome 7/2012 3/2017 3/2018 5/2017 Description of Procedure or Service Rett syndrome
More informationJULY 21, Genetics 101: SCN1A. Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology
JULY 21, 2018 Genetics 101: SCN1A Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology Disclosures: I have no financial interests or relationships to disclose. Objectives 1. Review genetic
More informationProposal 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
More informationClinical 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
More informationSEX-LINKED INHERITANCE. Dr Rasime Kalkan
SEX-LINKED INHERITANCE Dr Rasime Kalkan Human Karyotype Picture of Human Chromosomes 22 Autosomes and 2 Sex Chromosomes Autosomal vs. Sex-Linked Traits can be either: Autosomal: traits (genes) are located
More informationRett Syndrome What you should know
Rett Syndrome What you should know Alan K. Percy University of Alabama at Birmingham June 25, 2016 Bengt Hagberg Andreas Rett CLINICAL DIAGNOSIS Rett Syndrome A Neurodevelopmental Disorder of Young Females
More informationMutations. Any change in DNA sequence is called a mutation.
Mutations Mutations Any change in DNA sequence is called a mutation. Mutations can be caused by errors in replication, transcription, cell division, or by external agents. Mutations Mutations can be harmful.
More informationGenetic Testing for Rett Syndrome
Medical Policy Manual Genetic Testing, Policy No. 68 Genetic Testing for Rett Syndrome Next Review: January 2019 Last Review: July 2018 Effective: August 1, 2018 IMPORTANT REMINDER Medical Policies are
More informationEtiology of ASD: Do you offer a genetic evaluation to every patient with ASD? Paul Carbone, MD Associate Professor of Pediatrics University of Utah
Etiology of ASD: Do you offer a genetic evaluation to every patient with ASD? Paul Carbone, MD Associate Professor of Pediatrics University of Utah UNIVERSITY OF UTAH HEALTH Review The signs of ASD emerge
More informationWhat we know about Li-Fraumeni syndrome
What we know about Li-Fraumeni syndrome Dr Helen Hanson Consultant in Cancer Genetics St Georges Hospital, South-West Thames Regional Genetics Service History of LFS 1969 Li and Fraumeni describe four
More informationProtocol. Genetic Testing for Developmental Delay and Autism Spectrum Disorder
Genetic Testing for Developmental Delay and Autism Spectrum (20459, 20483, 20481) Medical Benefit Effective Date: 01/01/18 Next Review Date: 09/18 Preauthorization Yes Review Dates: 09/10, 09/11, 03/12,
More informationMEDICAL GENOMICS LABORATORY. Non-NF1 RASopathy panel by Next-Gen Sequencing and Deletion/Duplication Analysis of SPRED1 (NNP-NG)
Non-NF1 RASopathy panel by Next-Gen Sequencing and Deletion/Duplication Analysis of SPRED1 (NNP-NG) Ordering Information Acceptable specimen types: Blood (3-6ml EDTA; no time limitations associated with
More informationApproach to the Genetic Diagnosis of Neurological Disorders
Approach to the Genetic Diagnosis of Neurological Disorders Dr Wendy Jones MBBS MRCP Great Ormond Street Hospital for Children National Hospital for Neurology and Neurosurgery What is a genetic diagnosis?
More informationGenetics 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
More informationThis fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing.
11111 Fact Sheet 54 FRAGILE X SYNDROME This fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing. In summary Fragile X is a condition caused
More informationMutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations?
Mutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations? mutation basics Definition: a change in the genetic material of a cell Note: not all mutations are bad Can occur in 2 types
More informationMedical Advisory Council: Verified
What is White Sutton Syndrome? White Sutton Syndrome (WHSUS) is a condition characterized by autism and developmental delay and/or intellectual disability, as well as a characteristic facial profile. Children
More informationCentral Nervous System
Central Nervous System Developmental delay Loss of milestones Intellectual disability Dementia Seizures Neuropsychiatric disturbances Cerebral palsy Migraines Stroke and stroke-like episodes Movement disorders:
More informationChapter 12-4 DNA Mutations Notes
Chapter 12-4 DNA Mutations Notes I. Mutations Introduction A. Definition: Changes in the DNA sequence that affect genetic information B. Mutagen= physical or chemical agent that interacts with DNA to cause
More informationDravet syndrome : Clinical presentation, genetic investigation and anti-seizure medication. Bradley Osterman MD, FRCPC, CSCN
Dravet syndrome : Clinical presentation, genetic investigation and anti-seizure medication Bradley Osterman MD, FRCPC, CSCN Objectives Learn about the typical early clinical presentation of Dravet syndrome
More information14.1 Human Chromosomes pg
14.1 Human Chromosomes pg. 392-397 Lesson Objectives Identify the types of human chromosomes in a karotype. Describe the patterns of the inheritance of human traits. Explain how pedigrees are used to study
More informationWHEN DO MUTATIONS OCCUR?
WHEN DO MUTATIONS OCCUR? While most DNA replicates with fairly high accuracy, mistakes do happen. DNA polymerase sometimes inserts the wrong nucleotide or too many or too few nucleotides into a sequence.
More informationAre there foreseeable applications of genomic medicine for the management of neuropsychiatric conditions?
Are there foreseeable applications of genomic medicine for the management of neuropsychiatric conditions? Angus Clarke, Medical Genetics, Cardiff University, Wales Are there foreseeable applications of
More informationMEDICAL GENOMICS LABORATORY. Next-Gen Sequencing and Deletion/Duplication Analysis of NF1 Only (NF1-NG)
Next-Gen Sequencing and Deletion/Duplication Analysis of NF1 Only (NF1-NG) Ordering Information Acceptable specimen types: Fresh blood sample (3-6 ml EDTA; no time limitations associated with receipt)
More informationFEP Medical Policy Manual
FEP Medical Policy Manual Effective Date: October 15, 2018 Related Policies: None Genetic Testing for Rett Syndrome Description Rett syndrome (RTT), a neurodevelopmental disorder, is usually caused by
More informationTRANSLATION: 3 Stages to translation, can you guess what they are?
TRANSLATION: Translation: is the process by which a ribosome interprets a genetic message on mrna to place amino acids in a specific sequence in order to synthesize polypeptide. 3 Stages to translation,
More informationCHAPTER IV RESULTS. The goal of this study was to identify the underlying genetic defect in patients with MR
CHAPTER IV RESULTS The goal of this study was to identify the underlying genetic defect in patients with MR and epilepsy. Mutation analysis from the syndromic patients were performed, from the non syndromic
More informationAn exploration of the use of eye gaze & gestures in females with Rett syndrome. Anna Urbanowicz
An exploration of the use of eye gaze & gestures in females with Rett syndrome Anna Urbanowicz a.urbanowicz@uq.edu.au Background Communication Critical to participation in everyday life Challenging for
More informationOVERVIEW OF EPIGENETICS
OVERVIEW OF EIENETICS Date: * Time: 9:00 am - 9:50 am * Room: Berryhill 103 Lecturer: Terry Magnuson 4312 MBRB trm4@med.unc.edu 843-6475 *lease consult the online schedule for this course for the definitive
More informationInterrogating Rett Syndrome: developing ideas for research that matters. Angus Clarke, Clinical Genetics, Prifysgol Caerdydd, Cymru
Interrogating Rett Syndrome: developing ideas for research that matters Angus Clarke, Clinical Genetics, Prifysgol Caerdydd, Cymru Research into Rett Syndrome Four Factors: Unique clinical entity Biology
More informationProduct Description SALSA MLPA Probemix P015-F2 MECP2 To be used with the MLPA General Protocol.
Product Description SALSA Probemix P015-F2 MECP2 To be used with the MLPA General Protocol. Version F2. Compared to version F1, two reference probes have been replaced and the 118 nt Y fragment has been
More informationFragile X Syndrome. Genetics, Epigenetics & the Role of Unprogrammed Events in the expression of a Phenotype
Fragile X Syndrome Genetics, Epigenetics & the Role of Unprogrammed Events in the expression of a Phenotype A loss of function of the FMR-1 gene results in severe learning problems, intellectual disability
More informationCANCER GENETICS PROVIDER SURVEY
Dear Participant, Previously you agreed to participate in an evaluation of an education program we developed for primary care providers on the topic of cancer genetics. This is an IRB-approved, CDCfunded
More informationLESSON 3.2 WORKBOOK. How do normal cells become cancer cells? Workbook Lesson 3.2
For a complete list of defined terms, see the Glossary. Transformation the process by which a cell acquires characteristics of a tumor cell. LESSON 3.2 WORKBOOK How do normal cells become cancer cells?
More informationIndex. Child Adolesc Psychiatric Clin N Am 16 (2007) Note: Page numbers of article titles are in boldface type.
Child Adolesc Psychiatric Clin N Am 16 (2007) 745 749 Index Note: Page numbers of article titles are in boldface type. A Adolescent(s), velocardiofacial syndrome in, psychiatric disorders associated with,
More informationPACS1 related syndrome
PACS1 related syndrome rarechromo.org What is PACS1 related syndrome? How is it caused? PACS1 related syndrome is a recently discovered rare genetic condition whose hallmarks are developmental delay/ intellectual
More informationCURRENT 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
More informationDisorder name: Argininemia / Arginase deficiency Acronym: ARG 1 deficiency
Genetic Fact Sheets for Parents Amino Acid Disorders Screening, Technology, and Research in Genetics is a multi-state project to improve information about the financial, ethical, legal, and social issues
More informationvariant 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
More informationMeCP2 mutations in children with and without the phenotype of Rett syndrome
MeCP2 mutations in children with and without the phenotype of Rett syndrome K. Hoffbuhr, PhD; J.M. Devaney, PhD; B. LaFleur, PhD, MPH; N. Sirianni, MS; C. Scacheri, MS; J. Giron, BS; J. Schuette, MS; J.
More informationGenetics and Genomics in Medicine Chapter 6 Questions
Genetics and Genomics in Medicine Chapter 6 Questions Multiple Choice Questions Question 6.1 With respect to the interconversion between open and condensed chromatin shown below: Which of the directions
More information4/20/2016. Objectives. Epigenetic Definitions. Gene Expression. More Questions. Questions to Consider
Objectives Epigentics: You Might Be What Your Grandmother Ate Lynda Britton, Ph.D., MLS(ASCP) CM Professor LSU Health Shreveport Discuss epigenetics and its role in cancer, imprinting and X chromosome
More informationSNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY.
SAMPLE REPORT SNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY. RESULTS SNP Array Copy Number Variations Result: LOSS,
More informationTHE CHROMOSOMAL BASIS OF INHERITANCE CHAPTER 15
THE CHROMOSOMAL BASIS OF INHERITANCE CHAPTER 15 What you must know: Inheritance in sex-linked genes. Inheritance of linked genes and chromosomal mapping. How alteration of chromosome number or structurally
More informationGENDER James Bier
GENDER 2005-2008 James Bier Objectives 1. State the method of determining gender in several genetic systems. 2. List the three regions of the Y chromosome. 3. Describe the events that promote sexual development
More informationBio 111 Study Guide Chapter 17 From Gene to Protein
Bio 111 Study Guide Chapter 17 From Gene to Protein BEFORE CLASS: Reading: Read the introduction on p. 333, skip the beginning of Concept 17.1 from p. 334 to the bottom of the first column on p. 336, and
More informationValarie Kerschen M.D.
Valarie Kerschen M.D. Greek word meaning self 1940 s Dr Leo Kanner describes classic autism 1940 s Dr Hans Asperger describes Aspergers Syndrome 1960 s Autism theorized to be due to refrigerator mothers
More informationNo relevant disclosures
No relevant disclosures - Epileptic Encephalopathy (EE): Epileptic activity itself contributes to cognitive and behavioural impairments - Developmental and Epileptic Encephalopathy (DEE): Impairments occur
More informationIntroduction to genetic variation. He Zhang Bioinformatics Core Facility 6/22/2016
Introduction to genetic variation He Zhang Bioinformatics Core Facility 6/22/2016 Outline Basic concepts of genetic variation Genetic variation in human populations Variation and genetic disorders Databases
More informationMUTATIONS, MUTAGENESIS, AND CARCINOGENESIS
MUTATIONS, MUTAGENESIS, AND CARCINOGENESIS How do different alleles arise? ( allele : form of a gene; specific base sequence at a site on DNA) Mutations: heritable changes in genes Mutations occur in DNA
More informationMOLECULAR DIAGNOSIS for X-LINKED INTELLECTUAL DISABILITY
MOLECULAR DIAGNOSIS for X-LINKED INTELLECTUAL DISABILITY Intellectual disability (ID) or mental retardation is characterized by significant limitations in cognitive abilities and social/behavioral adaptive
More informationDMD Genetics: complicated, complex and critical to understand
DMD Genetics: complicated, complex and critical to understand Stanley Nelson, MD Professor of Human Genetics, Pathology and Laboratory Medicine, and Psychiatry Co Director, Center for Duchenne Muscular
More informationThe Molecular Evolution of Gene Birth and Death. Author: Ann Brokaw AP Biology Teacher Rocky River High School Rocky River, Ohio
The Molecular Evolution of Gene Birth and Death Author: Ann Brokaw AP Biology Teacher Rocky River High School Rocky River, Ohio The Birth and Death of Genes To the student: The following slides provide
More informationMMB (MGPG) Non traditional Inheritance Epigenetics. A.Turco
MMB (MGPG) 2017 Non traditional Inheritance Epigenetics A.Turco NON TRADITIONAL INHERITANCE EXCEPTIONS TO MENDELISM - Genetic linkage (2 loci close to each other) - Complex or Multifactorial Disease (MFD)
More informationTay Sachs, Cystic Fibrosis, Sickle Cell Anemia and PKU. Tay Sachs Disease (also called Hexosaminidase deficiency)
Tay Sachs, Cystic Fibrosis, Sickle Cell Anemia and PKU Tay Sachs Disease (also called Hexosaminidase deficiency) Introduction 1. Tay Sachs is a rare condition named after 2 physicians, Tay and Sachs, who
More informationProduct Description SALSA MLPA Probemix P138-C1 SLC2A1-STXBP1 To be used with the MLPA General Protocol.
Product Description SALSA Probemix P138-C1 SLC2A1-STXBP1 To be used with the MLPA General Protocol. Version C1. For complete product history see page 7. Catalogue numbers: P138-025R: SALSA MLPA probemix
More informationChromosomes, Mapping, and the Meiosis-Inheritance Connection. Chapter 13
Chromosomes, Mapping, and the Meiosis-Inheritance Connection Chapter 13 Chromosome Theory Chromosomal theory of inheritance - developed in 1902 by Walter Sutton - proposed that genes are present on chromosomes
More informationSection Chapter 14. Go to Section:
Section 12-3 Chapter 14 Go to Section: Content Objectives Write these Down! I will be able to identify: The origin of genetic differences among organisms. The possible kinds of different mutations. The
More informationDNA is the genetic material that provides instructions for what our bodies look like and how they function. DNA is packaged into structures called
DNA is the genetic material that provides instructions for what our bodies look like and how they function. DNA is packaged into structures called chromosomes. We have 23 pairs of chromosomes (for a total
More informationEpigenetics: Basic Principals and role in health and disease
Epigenetics: Basic Principals and role in health and disease Cambridge Masterclass Workshop on Epigenetics in GI Health and Disease 3 rd September 2013 Matt Zilbauer Overview Basic principals of Epigenetics
More informationNeurodevelopmental Disorders
Neurodevelopmental Disorders Intellectual Disability Disorder Autism Spectrum Disorder (ASD) Attention-Deficit Hyperactivity Disorder (ADD/ADHD) Motor Disorders/Tourette s Disorder Intellectual Disability
More informationProposal 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 OMIM number for disease 147920 Disease alternative names Please provide any alternative
More informationGenetic Variation Junior Science
2018 Version Genetic Variation Junior Science http://img.publishthis.com/images/bookmarkimages/2015/05/d/5/c/d5cf017fb4f7e46e1c21b874472ea7d1_bookmarkimage_620x480_xlarge_original_1.jpg Sexual Reproduction
More information6.3 DNA Mutations. SBI4U Ms. Ho-Lau
6.3 DNA Mutations SBI4U Ms. Ho-Lau DNA Mutations Gene expression can be affected by errors that occur during DNA replication. Some errors are repaired, but others can become mutations (changes in the nucleotide
More informationVariant Classification. Author: Mike Thiesen, Golden Helix, Inc.
Variant Classification Author: Mike Thiesen, Golden Helix, Inc. Overview Sequencing pipelines are able to identify rare variants not found in catalogs such as dbsnp. As a result, variants in these datasets
More informationA guide to understanding variant classification
White paper A guide to understanding variant classification In a diagnostic setting, variant classification forms the basis for clinical judgment, making proper classification of variants critical to your
More information9/25/ Some traits are controlled by a single gene. Selective Breeding: Observing Heredity
Chapter 7 Learning Outcomes Explain the concept of a single-gene trait Describe Mendel s contributions to the field of genetics Be able to define the terms gene, allele, dominant, recessive, homozygous,
More informationControversies Genetic: How do I tell the patient? 4/12/12
Controversies Genetic: How do I tell the patient? 4/12/12 1 Sameer M Zuberi MD, FRCP Paediatric Neurologist Honorary Clinical Associate Professor Royal Hospital for Sick Children Glasgow, UK American Epilepsy
More informationProposal 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 and description (please provide any alternative names Osteogenesis Imperfecta
More informationPatterns of Single-Gene Inheritance Cont.
Genetic Basis of Disease Patterns of Single-Gene Inheritance Cont. Traditional Mechanisms Chromosomal disorders Single-gene gene disorders Polygenic/multifactorial disorders Novel mechanisms Imprinting
More informationUnit 3: DNA and Genetics Module 9: Human Genetics
Unit 3: DNA and Genetics Module 9: Human Genetics NC Essential Standard: 3.2 Understand how the environment, and /or the interaction of alleles, influences the expression of genetic traits. 3.3.3 Evaluate
More informationPrevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
Mangatt et al. Orphanet Journal of Rare Diseases (2016) 11:39 DOI 10.1186/s13023-016-0418-y RESEARCH Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome Open Access Meghana
More informationUnderstanding Autism Spectrum Disorder. By: Nicole Tyminski
Understanding Autism Spectrum Disorder By: Nicole Tyminski What is Autism? Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These
More informationGenetic screening. Martin Delatycki
7 Genetic screening Martin Delatycki Case study 1 Vanessa and John are planning a family. They see their general practitioner and ask whether they should have any tests prior to falling pregnant to maximise
More informationNature vs nurture: Epigenetics
Nature vs nurture: Epigenetics What is epigenetics? Epigenetic processes control whether a gene is switched on or off (gene expression), without altering the underlying DNA sequence They include modifications
More informationSotos syndrome. Nazneen Rahman Institute of Cancer Research
Sotos syndrome Nazneen Rahman Institute of Cancer Research Sotos syndrome- background Sporadic condition Distinctive facial appearance Overgrowth (tall with big heads) Learning difficulties Other variably
More informationMutations. A2 Biology For WJEC
12. Mutation is a change in the amount, arrangement or structure in the DNA of an organism. 13. There are two types of mutations, chromosome mutations and gene mutations. Mutations A2 Biology For WJEC
More informationWhat is the relationship between genes and chromosomes? Is twinning genetic or can a person choose to have twins?
WHAT WILL YOU KNOW? What is the relationship between genes and chromosomes? Is twinning genetic or can a person choose to have twins? How could a person have the gene for something that is never apparent?
More informationExploding 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
More informationCommittee Paper SCAAC(05/09)01. ICSI guidance. Hannah Darby and Rachel Fowler
Committee Paper Committee: Scientific and Clinical Advances Advisory Committee Meeting Date: 12 May 2009 Agenda Item: 4 Paper Number: SCAAC(05/09)01 Paper Title: ICSI guidance Author: Hannah Darby and
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider TEST DISEASE/CONDITION POPULATION TRIAD Submitting laboratory: Manchester RGC Approved: September 2013
More informationGENOTYPE-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
More informationSNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY.
SAMPLE REPORT SNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY. RESULTS SNP Array Copy Number Variations Result: GAIN,
More informationRegulation of Gene Expression in Eukaryotes
Ch. 19 Regulation of Gene Expression in Eukaryotes BIOL 222 Differential Gene Expression in Eukaryotes Signal Cells in a multicellular eukaryotic organism genetically identical differential gene expression
More informationClinical evaluation of microarray data
Clinical evaluation of microarray data David Amor 19 th June 2011 Single base change Microarrays 3-4Mb What is a microarray? Up to 10 6 bits of Information!! Highly multiplexed FISH hybridisations. Microarray
More informationEpilepsy Syndromes: Where does Dravet Syndrome fit in?
Epilepsy Syndromes: Where does Dravet Syndrome fit in? Scott Demarest MD Assistant Professor, Departments of Pediatrics and Neurology University of Colorado School of Medicine Children's Hospital Colorado
More informationKlinefelter syndrome ( 47, XXY )
Sex Chromosome Abnormalities, Sex Chromosome Aneuploidy It has been estimated that, overall, approximately one in 400 infants have some form of sex chromosome aneuploidy. A thorough discussion of sex chromosomes
More informationBasic Definitions. Dr. Mohammed Hussein Assi MBChB MSc DCH (UK) MRCPCH
Basic Definitions Chromosomes There are two types of chromosomes: autosomes (1-22) and sex chromosomes (X & Y). Humans are composed of two groups of cells: Gametes. Ova and sperm cells, which are haploid,
More informationMultiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016
Multiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016 Marwan Tayeh, PhD, FACMG Director, MMGL Molecular Genetics Assistant Professor of Pediatrics Department of Pediatrics
More informationRACP 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
More informationDr. Sarah Weckhuysen, MD, PhD. Neurogenetics Group, VIB-Department of Molecular Genetics University of Antwerp, Belgium
Dr. Sarah Weckhuysen, MD, PhD Neurogenetics Group, VIB-Department of Molecular Genetics University of Antwerp, Belgium Common Prevalence 4-8/1000 Life time incidence 3% Key symptom = seizures Nature Reviews
More informationProposal 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 and description (please provide any alternative names you wish listed) (A)-Testing
More informationAutism Spectrum Disorder
Autism Spectrum Disorder 1) Approximately 1 out of every children in the United States will have an ASD. a) 44 b) 88 c) 122 d) 244 2) Asperger s syndrome presents more frequently in boys than it does in
More informationGenetic Conditions and Services: An Introduction
Genetic Conditions and Services: An Introduction Jennifer Roberts, MC, MS, CGC Laboratory Genetics Counselor The Children s Mercy Hospital, 2017 Goals Determine which children/families may benefit from
More informationUnit 3: DNA and Genetics Module 9: Human Genetics
Unit 3: DNA and Genetics Module 9: Human Genetics NC Essential Standard: 3.2.3 Explain how the environment can influence expression of genetic traits 3.3.3 Evaluate ethical issues surrounding the use of
More informationWhat You ll Learn. Genetics Since Mendel. ! Explain how traits are inherited by incomplete dominance
Genetics Since Mendel GLE 0707.4.4 Predict the probable appearance of offspring based on the genetic characteristics of the parents. What You ll Learn! Explain how traits are inherited by incomplete dominance!
More informationFACT SHEET 15. Epigenetics. What is imprinting of genes? Produced by the Centre for Genetics Education. Internet:
Important points It is increasingly clear that translation of the genetic code into proteins is not the only way that our genes influence our growth, development and health and that changes in the genetic
More informationHuman Inheritance Lesson 4
Human Inheritance Lesson 4 May 10 6:55 PM What are some patterns of human inheritance? What are the functions of the sex chromosomes? May 10 6:56 PM 1 I. What are some patterns of human inheritance A.
More informationLab #10: Karyotyping Lab
Lab #10: Karyotyping Lab INTRODUCTION A karyotype is a visual display of the number and appearance of all chromosomes from a single somatic cell. A normal human karyotype would reveal 46 chromosomes (22
More informationLecture 7. Chapter 5: Extensions and Modifications of Basic Principles, Part 2. Complementation Test. white squash x white squash WwYy x WwYy
Lecture 7 white squash x white squash WwYy x WwYy Chapter 5: Extensions and Modifications of Basic Principles, Part 2 Problem Set 1B due on Monday Genotype W_Y_ 9/16 W_yy 3/16 wwy_ 3/16 wwyy 1/16 Phenotype
More information