FRAMBU. Resource Centre for Rare Disorders

Size: px
Start display at page:

Download "FRAMBU. Resource Centre for Rare Disorders"

Transcription

1

2 FRAMBU Resource Centre for Rare Disorders

3 Frambu Resource Centre for Rare Disorders is one of nine centres working with rare disorders in Norway. All nine centres are part of the Norwegian National Advisory Unit on Rare Disorders. The services provided are funded by the government as a supplement to the public health care system i Norway. Frambu s mission is to give people with rare or little known disabilities of all ages the possibility to live a life according to their abilities, wishes and needs. Developing and spreading knowledge about rare disorders is a primary goal to achive our mission. Frambu offers courses, councelling, research and up-to-date information about more than 400 rare disorders. National and international cooperation is essential in order to acquire knowledge about rare disorders. Therefore, Frambu works closely with professionals and organisations representing people with rare disorders around the world. Frambu actively participates in networking and research concerning rare disorders. Every year Frambu offers a variety of courses. Some courses are aimed at persons with rare disorders and their families, while others are aimed at professionals working with persons with rare disorders. During these courses participants receive information about rare disorders and related topics. They are also offered the opportunity of meeting other people in similar situations and share their experiences. If you are interested in more information about Frambu and our services, please visit or contact us by phone, , chat or social media.

4 Courses Frambu offers approximately 50 different courses every year. Courses aimed at people with rare disorders and their families focus on one or more disorder and related topics. Courses aimed at professionals focus on rare disorders and related topics adjusted to professionals needs. These courses are also made available by video conference and online streaming. In the summer, Frambu offers camps for children, youth and adults with rare disorders. They are given an opportunity to experience and master a variety of different activities, both social and physical. This is important in empowering people living with rare disorders. Communication and documentation Frambu collects and develops high quality transdisciplinary knowledge about rare disorders. Our knowledge is shared in courses, on our website, in social media and in various printed materials. Anyone can contact Frambu by phone, or social media.

5 Information and councelling Frambu offers information and councelling to people with rare disorders, both individually and in groups. The information can be adapted and tailored to special needs. It s important for people with rare disorders and their families to have a strong professional support network were they live. Therefore, Frambu offers councelling to professionals working in the local communities. Frambu regularily participates in video conferences, local meetings and conferences. Research Frambu develops new knowledge about rare disorders through research. Frambu collaborates on both national and international projects, in the fields of medicin, genetics, nutrition, fysiotherapy, occupational therapy, psychology, special education and social work. Frambu has its own research coordinator and we actively collaborate with students doing projects at bachelor-, master- and PhD-level.

6 National responsibilty for more than 400 disorders for example 22q11 deletion syndrome 22q13 deletion syndrome 4p- deletion syndrome 5p- deletion syndrome 47 XXX 47 XXY syndrome 47 XYY syndrome 48 XXXY syndrome 48 XXYY syndrome 49 XXXXY syndrome Adrenoleukodystrophy Aicardi-Goutières syndrome Alexander disease Alpers syndrome Alternating hemiplegia of childhood Angelman syndrome Aspartylglycosaminuria Ataxia telangiectasia Becker muscular dystrophy Beckwith-Wiedemann syndrome Canavan disease Carbohydrate-deficient glycoprotein syndrome Cardiofaciocutaneous syndrome Charcot-Marie-Tooth disease CHARGE syndrome Chronic progressive external opthalmoplegia Chromosomal anormaly (extremely rare, causing combined problems) Cockayne syndrome Coffin-Lowry syndrome Cognitive disability without known cause (innate) Cohen syndrome Congenital muscular dystrophy Cornelia de Lange syndrome Costello syndrome Cri du chat syndrome DiGeorge syndrome Duchenne muscular dystrophy Edward syndrom Emery-Dreyfuss muscular dystrophy Facio-scapulo-humeral muscular dystrophy Fahr disease Fucosidosis Fragile X syndrome Friedreich ataxia Gangliosidosis type II Gaucher disease Glutaric aciduria type 1 Hemihyperplasia Heritary spastic paraplegia Hunter syndrome Hurler syndrome Jacob syndrome Joubert syndrome Kabuki syndrome Kallmann syndrome Kearns-Sayre syndrome Kleefstra syndrome Klinefelter syndrome Klippel-Trénaunay syndrome Krabbe disease L1 syndrome Leber hereditary optic neuropathy Leigh disease Lesch-Nyhan syndrome Limb-girdle muscular dystrophy Lissencephaly Mannosidosis alpha B Marinesco-Sjögren disease Maroteaux-Lamy disease Menke syndrome Metachromatic leukodystrophy Miller-Dieker syndrome Mitochondrial encephalopathy, lactic acidosis and strokelike episodes Mitochondrial diseases Mitochondrial neurogastrointestinal encephalomyelopathy Morquio syndrome Mycoloipidosis type I-IV Mucopolysaccharidosis type I-IX Myoclonic epilepsy, ragged red fibres Myotonic dystrophy type 1 and 2 Möbius syndrome Neuroaxonal dystrophy (infantile) Neurofibromatosis type 1 Neurofibromatosis type 2 Neuromuscular diseases (hereditary or innate) Neuronal ceroid lipofuscinosis Niemann-Pick disease Noonan syndrome Numeric sex chromosome variations Ornithine carbamoyltransferase deficiency Panthothenate kinase-assosiated neurodegenerative disease Pearson syndrome Pelizaeus-Merzbacher disease Phelan-McDermid syndrome Pitt-Hopkin syndrome Pompe disease Potocki-Lupski disease Prader-Willi syndrome Primary familiar brain calcification Progeria Progressive disorder without known cause Progressive infantile poliodystrophy Progressive sclerosing poliodystrophy Proteus syndrome Pseudo-Hurler polydystrophy Rare premature aging conditions Rett syndrome Rubinstein-Taybi syndrome Salla syndrome Sandhoff disease Sanfillipo syndrome Santavuori-Haltia disease Scheie syndrome Schwannomatosis Seckel syndrome Seitelberger sykdom Septooptic dysplasia Sialidosis Silver-Russell syndrome Sly disease Smith-Lemli-Opitz syndrome Smith-Magenis disease Sotos syndrome Spielmeyer-Vogt disease Spinal muscular atrohpy Spinocerebellar ataxia Steinert disease Severe and progressive illness affecting the central nervous system Takao syndrome Tay-Sach disease Triple X Trisomy 13 Trisomy 18 Turner syndrome Velocardiofacial syndrome Vestibular schwannomatosis von Hippel-Lindau syndrome Weaver syndrome Werdnig-Hoffmann disease Williams syndrome White matter disease Wolf-Hirschorn syndrome X-bound recessive condition with cognitive disability See for more information

7 Visit us at

8 a part of Norwegian National Advisory Unit on Rare Disorders Frambu is a resource centre for rare disorders and a part of the public special health care system i Norway. Transdisciplinary expertice All ages and phases of life Courses and councelling Research, development and documentation For families and professionals No referral needed Most services are free Feel free to contact us about rare disorders! info@frambu.no Phone:

All diseases on Foresight

All 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 information

Genomics and Genetics in Healthcare. By Mary Knutson, RN, MSN

Genomics 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 information

BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.

BROADENING 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 information

Redefining HIV encephalopathy in children living in SSA

Redefining HIV encephalopathy in children living in SSA Redefining HIV encephalopathy in children living in SSA Charles RJC Newton Kenya Medical Research Institute/ Wellcome Trust Collaborative Programme, Kilifi, Kenya Epidemiology of HIV in Children living

More information

Parent 1/Guardian Information. Parent 1/Guardian Information (If Different from Above)

Parent 1/Guardian Information. Parent 1/Guardian Information (If Different from Above) New Jersey Center on Deafblindness CENSUS REPORTING FORM (Please Print) Today s Date: Name of the Reporter: CHILD/STUDENT INFORMATION Last Name: First Name: MI: Age: Gender: M F Date of Birth: / / MM DD

More information

Iowa Deafblind Registry New Referral

Iowa Deafblind Registry New Referral Iowa Deafblind Registry New Referral Today s Date: Child s Name First: Address: Is there an IFSP or IEP in place for this child? Yes. Although written parental consent is not necessary for adding this

More information

CHRONIC MYELOGENOUS LEUKEMIA

CHRONIC 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 information

he A-Z Reference Book of Syndromes and Inherited Disorders

he A-Z Reference Book of Syndromes and Inherited Disorders he A-Z Reference Book of Syndromes and Inherited Disorders The A-Z Reference Book of Syndromes and Inherited Disorders Patricia Gilbert Visiting Senior Lecturer, Warwick University, UK SPRINGER-SCIENCE+BUSINESS

More information

The 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 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 information

New York Deaf-Blind Collaborative Referring a Child

New York Deaf-Blind Collaborative Referring a Child New York Deaf-Blind Collaborative Referring a Child NYDBC Overview The New York Deaf-Blind Collaborative (NYDBC) is statewide grant that provides technical assistance to improve services for children and

More information

Clinical Approach to Diagnosis of Lysosomal Storage Diseases

Clinical Approach to Diagnosis of Lysosomal Storage Diseases Clinical Approach to Diagnosis of Lysosomal Storage Diseases M. Rohrbach, MD, PhD FMH Pädiatrie und FMH Medizinische Genetik Abteilung Stoffwechsel Universitätskinderklinik Zürich Lysosomal storage disorders

More information

Symptoms and diagnosis of autism in individuals with genetic disorders

Symptoms and diagnosis of autism in individuals with genetic disorders Symptoms and diagnosis of autism in individuals with genetic disorders Dr Jane Waite Lecturer and Clinical Psychologist 15 th March 2018 The West Midlands Neurodevelopmental Disorders Network (2018) Overview

More information

FABRY DISEASE 12/30/2012. Ataxia-Telangiectasia. Ophthalmologic Signs of Genetic Neurological Disease

FABRY DISEASE 12/30/2012. Ataxia-Telangiectasia. Ophthalmologic Signs of Genetic Neurological Disease Ophthalmologic Signs of Genetic Neurological Disease ES ROACH,MD. Ophthalmologic Signs of Genetic Neurological Disease Conjunctival lesions Corneal lesions Lesions of iris & lens Retinal vascular lesions

More information

COLORADO STATEWIDE CHILD COUNT FOR CHILDREN AND YOUTH WITH COMBINED VISION AND HEARING LOSS (DEAF-BLINDNESS)

COLORADO STATEWIDE CHILD COUNT FOR CHILDREN AND YOUTH WITH COMBINED VISION AND HEARING LOSS (DEAF-BLINDNESS) COLORADO STATEWIDE CHILD COUNT FOR CHILDREN AND YOUTH WITH COMBINED VISION AND HEARING LOSS (DEAF-BLINDNESS) Colorado Department of Education / Exceptional Student Services Unit 1560 Broadway, Suite 1100,

More information

Neurodegenerative disorders: an approach to investigation. Robert Robinson Practical Paediatric Neurology Study Days April 2018

Neurodegenerative disorders: an approach to investigation. Robert Robinson Practical Paediatric Neurology Study Days April 2018 Neurodegenerative disorders: an approach to investigation Robert Robinson Practical Paediatric Neurology Study Days April 2018 Aims An approach to investigating and diagnosing young children with progressive

More information

Genetic diagnosis of limb girdle muscular dystrophy type 2A, A Case Report

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

More information

Strand Neuromuscular Disorders Test: Genes & Test Selection

Strand Neuromuscular Disorders Test: Genes & Test Selection 1 Strand Neuromuscular Disorders Test: Genes & Test Selection 2 Can the Strand Neuromuscular Disorders Test Be Offered for Prenatal Diagnosis? 3 Strand Neuromuscular Disorders Test: Genes & Test Selection

More information

6 AAMD Classifications

6 AAMD Classifications 6 AAMD Classifications This section contains the American Association on Mental Deficiency (1977 AAMD version) codes and decode values used in CARE. The codes are listed in numerical order. CARE System

More information

Draw a pedigree during the neurological consultation

Draw a pedigree during the neurological consultation 38 PRACTICAL NEUROLOGY HOW TO DO IT Draw a pedigree during the neurological consultation Saif S.M. Razvi* and Ian Bone *Specialist Registrar and Professor of Neurology, Division of Clinical Neurosciences,

More information

General Approach to Genetic Testing

General 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 information

Family Medical History Questionnaire (FMHQ)

Family Medical History Questionnaire (FMHQ) First, Last Name DOB: Cord Blood Bank Use Only: Family Medical History Questionnaire (FMHQ) NMDP CBU ID: Local CBU ID: NMDP Maternal ID: Today's Date: Local Maternal ID: Baby's Mother's Initials: Please

More information

EURORDIS Member Organisations - Diseases - ERN Groupings Working Document

EURORDIS Member Organisations - Diseases - ERN Groupings Working Document EURORDIS Member Organisations - Diseases - ERN Groupings Working Document Diseases ERN Group - Primary ERN Group - secondary Achondroplasia Fibrodysplasia ossificans progressiva Fibrous dysplasia of bone

More information

The presence of chronic conditions in children places the well being of the entire family at risk (Jackson, Frydenberg, Liang, Higgins & Murphy, 2015)

The presence of chronic conditions in children places the well being of the entire family at risk (Jackson, Frydenberg, Liang, Higgins & Murphy, 2015) Emotional Experiences among Siblings of Children with Rare Disorders Svein Mossige 1 Yngvild B. Haukeland 1, Krister W. Fjermestad 1,2, Torun M. Vatne 2 1 Department of Psychology, University of Oslo,

More information

Standard Therapies - Cord Blood

Standard Therapies - Cord Blood A healthy future is in your hands 01 02 03 04 Standard Therapies - Cord Blood Clinical Trials with Blood - Forming Stem Cells Gene Therapy for Inherited Disorders Using Blood - Forming Stem Cells Clinical

More information

Shared embryology Eye and brain develop from neuro-ectoderm

Shared embryology Eye and brain develop from neuro-ectoderm The Patient with Visual Loss: Localization of Neuropathologic Disease and Select Diseases of Neuropathologic Interest Steven A. Kane, M.D., Ph.D. The Edward S. Harkness Eye Institute Shared embryology

More information

General Approach to Genetic Testing

General 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 information

Gaucher disease 3/22/2009. Mendelian pedigree patterns. Autosomal-dominant inheritance

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

More information

Genetic Disorders. PART ONE: Detecting Genetic Disorders. Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test

Genetic Disorders. PART ONE: Detecting Genetic Disorders. Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test Genetic Disorders PART ONE: Detecting Genetic Disorders Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test Amniocentesis A technique for determining genetic abnormalities in a fetus

More information

DISEASES GENETIC ENVIRONMENTAL BOTH

DISEASES GENETIC ENVIRONMENTAL BOTH GENETIC DISORDERS DISEASES GENETIC ENVIRONMENTAL BOTH MUTATIONS PERMANENT change in DNA GENE MUTATION: (may, and often, result in a single base error) CHROMOSOME MUTATION: (visible chromosome change) GENOME

More information

PROPOSED CHANGES TO EARLY ON ESTABLISHED CONDITIONS. Original material drawn from: MICHIGAN INTERAGENCY AGREEMENT Attachment 1

PROPOSED CHANGES TO EARLY ON ESTABLISHED CONDITIONS. Original material drawn from: MICHIGAN INTERAGENCY AGREEMENT Attachment 1 PROPOSED CHANGES TO EARLY ON ESTABLISHED CONDITIONS Original material drawn from: MICHIGAN INTERAGENCY AGREEMENT Attachment 1 Eligibility Definitions For Early Intervention Services in Michigan Under Part

More information

Basic Definitions. Dr. Mohammed Hussein Assi MBChB MSc DCH (UK) MRCPCH

Basic 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 information

MICROCEPHALY DEVELOPMENTAL IMPLICATIONS IN BIRTH-3 Diana M. Cejas, MD, MPH Child Neurology Fellow The University of Chicago Comer Children s Hospital

MICROCEPHALY DEVELOPMENTAL IMPLICATIONS IN BIRTH-3 Diana M. Cejas, MD, MPH Child Neurology Fellow The University of Chicago Comer Children s Hospital Early Intervention Training Program at the University of Illinois at Urbana Champaign presents Microcephaly: Developmental Implications in Birth-3 The webinar will begin at (1:30 PM CST). There will be

More information

A Presentation to: ABA. Howard M. Sandler, M.D. Sandler Occupational Medicine Associates, Inc. April 2008

A Presentation to: ABA. Howard M. Sandler, M.D. Sandler Occupational Medicine Associates, Inc. April 2008 Genetics, Testing and Toxic Torts A Presentation to: ABA Howard M. Sandler, M.D. Sandler Occupational Medicine Associates, Inc. April 2008 Common Genetic Disorders Disorder Mutation Chromosome 22q11.2

More information

Retro-bulbar visual anatomy Optic nerves carry. Normal left ocular fundus. Retinal nerve fiber layer anatomy

Retro-bulbar visual anatomy Optic nerves carry. Normal left ocular fundus. Retinal nerve fiber layer anatomy The Patient with Visual Loss: Localization of Neuropathologic Disease and Select Diseases of Neuropathologic Interest Steven A. Kane, M.D., Ph.D. The Edward S. Harkness Eye Institute Shared embryology

More information

PREDICAGEN LLC REPORT

PREDICAGEN 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 information

Eye and b develop fr neuro-ect. Their func. to disease. Blood ocular/bra. The eye is The eye is window in

Eye and b develop fr neuro-ect. Their func. to disease. Blood ocular/bra. The eye is The eye is window in The Patient wit th Visual Loss: Localization of Neuropathologic Disease and Select Diseases of Neuropathologic Interest Steven A. Kan e, MD M.D., PhD Ph.D. The Edward S. Harkness Eye Institute The eye

More information

Index. Phys Med Rehabil Clin N Am 14 (2003) Note: Page numbers of article titles are in boldface type.

Index. Phys Med Rehabil Clin N Am 14 (2003) Note: Page numbers of article titles are in boldface type. Phys Med Rehabil Clin N Am 14 (2003) 445 453 Index Note: Page numbers of article titles are in boldface type. A Acid maltase deficiencies, electrodiagnosis of, 420, 422 Acquired peripheral neuropathy,

More information

Genetic Diseases. SCPA202: Basic Pathology

Genetic 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 information

Update on the management of neurometabolic disorders in children.

Update on the management of neurometabolic disorders in children. Update on the management of neurometabolic disorders in children. Jane Ashworth Consultant Paediatric Ophthalmologist Manchester Royal Eye Hospital, UK Professor Kristina Fahnehjelm St Eriks Eye Hospital,

More information

What s New in Newborn Screening?

What 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 administered by the Illinois Department of Public Health.

More information

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

Schedule 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 information

Available for Montrose Therapy Services

Available for Montrose Therapy Services Funding O ptions Available for Montrose Therapy Services Funding Options There are number of ways to access Montrose services including the National Disability Insurance Scheme (NDIS) and private health

More information

Department of Aging and Disability Services Approved Diagnostic Codes for Persons with Related Conditions

Department of Aging and Disability Services Approved Diagnostic Codes for Persons with Related Conditions Department of Aging and Disability Services Approved Diagnostic Codes for Persons with Related Conditions The following diagnostic codes are found in the International Classification of Diseases, Ninth

More information

Index. Autism, infantile, diagnostic features, 2581 Axonogenesis, 6

Index. Autism, infantile, diagnostic features, 2581 Axonogenesis, 6 Index Acetylcholinesterase, 90 Acid maltase deficiency, 188 Acoustic neuroma, 109, 210 Acquired immune deficiency syndrome (AIDS) encephalopathy, 125 Acute cerebellar ataxia, 275 Acute confusional reaction,

More information

HEMATOPOIETIC CELL TRANSPLANTATION FOR GENETIC DISEASES AND ACQUIRED ANEMIAS

HEMATOPOIETIC CELL TRANSPLANTATION FOR GENETIC DISEASES AND ACQUIRED ANEMIAS ACQUIRED ANEMIAS 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 information

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

Schedule 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 information

7 Medical Genetics. Hemoglobinopathies. Hemoglobinopathies. Protein and Gene Structure. and Biochemical Genetics

7 Medical Genetics. Hemoglobinopathies. Hemoglobinopathies. Protein and Gene Structure. and Biochemical Genetics SESSION 7 Medical Genetics Hemoglobinopathies and Biochemical Genetics J a v a d F a s a J a m s h i d i U n i v e r s i t y o f M e d i c a l S c i e n c e s, N o v e m b e r 2 0 1 7 Hemoglobinopathies

More information

When to think about metabolic disorders in adulthood? Wouter Meersseman

When to think about metabolic disorders in adulthood? Wouter Meersseman When to think about metabolic disorders in adulthood? Wouter Meersseman General Internal Medicine Adult Metabolic Clinic Wouter Meersseman, Leuven, Belgium Man, 25 year-old Normal development From 15 months

More information

CPT Code and Price List

CPT Code and Price List CPT Code and Price List 2018 CPT Codes Molecular Tests Next Generation Sequencing Panels (2) Sanger Sequencing (3-4) Deletion/Duplication (MLPA) (4) Methylation Analysis (4) Targeted Analysis (4) Trinucleotide

More information

scfish: A Primer Peter K. Rogan, Ph.D. Joan H. M. Knoll, Ph.D., FACMG, FCCMG Children s Mercy Hospitals and Clinics Tuesday, July 29, 2003

scfish: A Primer Peter K. Rogan, Ph.D. Joan H. M. Knoll, Ph.D., FACMG, FCCMG Children s Mercy Hospitals and Clinics Tuesday, July 29, 2003 scfish: A Primer Peter K. Rogan, Ph.D. Joan H. M. Knoll, Ph.D., FACMG, FCCMG Children s Mercy Hospitals and Clinics Tuesday, July 29, 2003 FISH: A Molecular Cytogenetic Test Complementary nucleic acid

More information

Cytogenetic Biochemical

Cytogenetic Biochemical Diagnostic Laboratories Test Menu Molecular Cytogenetic Biochemical Table of Contents Lab Directors & Genetic Counselors...2 Molecular Diagnostic Lab Next Generation Sequencing Panels...3 Biochemical Diagnostic

More information

Referral Packet. COLLEGE OF EDUCATION Revised December Table of Contents

Referral Packet. COLLEGE OF EDUCATION Revised December Table of Contents 2015 Referral Packet Table of Contents Who are the children with dual sensory impairments? 1 What is the Nevada Dual Sensory Impairment Project?. 1 Who can refer children to the project?... 1 What is next?.

More information

Chromosomal Abnormalities and Karyotypes Creating a Karyotype

Chromosomal Abnormalities and Karyotypes Creating a Karyotype Chromosomal Abnormalities and Karyotypes Creating a Karyotype The Normal Human Karyotype The normal human karyotype is composed of SEVEN groups of chromosomes A G plus the sex chromosomes X and Y. The

More information

Human Genetic Mutations

Human Genetic Mutations Human Genetic Mutations 2 Main Types of Mutations 1.) Chromosomal Mutations 2.) Gene Mutations What are chromosomes? Humans have 23 pairs of chromosomes, with one chromosome from each parent. The chromosomes

More information

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

Schedule 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 Accredited to ISO 15189:2012 Laboratory Genetics Level 2B, Laboratory Medicine Queen Elizabeth University Hospital Govan Road Glasgow G51

More information

1/28/2019. OSF HealthCare INI Care Center Team. Neuromuscular Disease: Muscular Dystrophy. OSF HealthCare INI Care Center Team: Who are we?

1/28/2019. OSF HealthCare INI Care Center Team. Neuromuscular Disease: Muscular Dystrophy. OSF HealthCare INI Care Center Team: Who are we? Neuromuscular Disease: Muscular Dystrophy Muscular Dystrophy Association (MDA) and OSF HealthCare Illinois Neurological Institute (INI) Care Center Team The Neuromuscular clinic is a designated MDA Care

More information

Prevalence of lysosomal storage diseases in Portugal

Prevalence of lysosomal storage diseases in Portugal (2004) 12, 87 92 & 2004 Nature Publishing Group All rights reserved 1018-4813/04 $25.00 www.nature.com/ejhg ARTICLE Rui Pinto 1,2, Carla Caseiro 1, Manuela Lemos 1, Lurdes Lopes 1, Augusta Fontes 1, Helena

More information

Eligibility Determination Notice to Coordinators

Eligibility Determination Notice to Coordinators Eligibility Determination Notice to Coordinators Michigan Department of Education Early On Reference Bulletin No. 10 October 21, 2009 BACKGROUND Effective July 1, 2010 the eligibility criteria for children

More information

What s New in Newborn Screening?

What 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 information

Beyond Mendel s Laws of Inheritance

Beyond Mendel s Laws of Inheritance Beyond Mendel s Laws of Inheritance 2006-2007 Extending Mendelian genetics Mendel worked with a simple system peas are genetically simple most traits are controlled by a single gene each gene has only

More information

PGD: A Celebration of 20 years:

PGD: A Celebration of 20 years: PGD: A Celebration of 20 years: What is Reality and What is Not? Roma June 30, 2010 Mark Hughes, M.D., Ph.D. Professor of Genetics, Internal Medicine, Pathology Director, Genesis Genetics Institute Director,

More information

A. disorders of amino acid metabolism classical phenylketonuria and hyperphenylalaninemia

A. 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 information

Contents 1 The Apparently Blind Infant

Contents 1 The Apparently Blind Infant Contents 1 The Apparently Blind Infant... 1 Introduction... 1 Neuro-Ophthalmologic Clues... 1 Crossmodality of Sensory Input... 4 Assessment of Vision... 5 Hereditary Retinal Disorders... 7 Leber Congenital

More information

Articles Clinical Approach to Genetic Cardiomyopathy in Children Abstract

Articles Clinical Approach to Genetic Cardiomyopathy in Children Abstract (Circulation. 1996;94:2021-2038.) 1996 American Heart Association, Inc. Articles Clinical Approach to Genetic Cardiomyopathy in Children Marcy L. Schwartz, MD; Gerald F. Cox, MD, PhD; Angela E. Lin, MD;

More information

Centres 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 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 information

panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders

panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders NGS tests panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders UKGTN website lists 13 laboratories offering a total of 56 panel test UKGTN listed panel

More information

BULGARIAN NATIONAL PLAN. Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD)

BULGARIAN NATIONAL PLAN. Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD) BULGARIAN NATIONAL PLAN FOR RARE DISEASES 2009 2013 Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD) Strategy for rare diseases in Bulgaria Project of National

More information

Neonatal Hypotonia. Encephalopathy acute No encephalopathy. Neurology Chapter of IAP

Neonatal 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 information

CONTENTS. List of Entries...vii Introduction...xiii Advisory Board... xv Contributors... xvii Symbol Guide for Pedigree Charts...

CONTENTS. List of Entries...vii Introduction...xiii Advisory Board... xv Contributors... xvii Symbol Guide for Pedigree Charts... CONTENTS List of Entries...vii Introduction....xiii Advisory Board... xv Contributors.... xvii Symbol Guide for Pedigree Charts...xxi Entries Volume 1: A-L........1 Volume 2: M-Z........767 Appendix Chromosome

More information

ICD- 9 to ICD- 10 Transition PT SERVICES. October 1, 2015

ICD- 9 to ICD- 10 Transition PT SERVICES. October 1, 2015 ICD- 9 to ICD- 10 Transition PT SERVICES October 1, 2015 ICD- 9 ICD- 10 Description (ICD- 10) 1919 C71.9 Malignant neoplasm of brain, unspecified 1940 C74.90 Malignant neoplasm of unspecified part of unspecified

More information

Neurological Syndromes

Neurological Syndromes J. Gordon Millichap Neurological Syndromes A Clinical Guide to Symptoms and Diagnosis 123 Neurological Syndromes J. Gordon Millichap Neurological Syndromes A Clinical Guide to Symptoms and Diagnosis J.

More information

Lecture 18 Evolution and human health

Lecture 18 Evolution and human health Lecture 18 Evolution and human health Evolution and human health 1. Genetic factors 2. Infectious diseases Evolution and human health 1. Genetic factors Evolution and human health 1. Genetic factors P

More information

MLPA SAMPLES USER GUIDE

MLPA SAMPLES USER GUIDE MLPA SAMPLES USER GUIDE MLPA microdeletion studies Requirements: 1-2 mls (minimum) of peripheral blood in a lithium heparin tube (green or orange top) AND 1-2 mls of peripheral blood in a EDTA tube (purple

More information

Appendix B: List of Rare Diseases

Appendix B: List of Rare Diseases Appendix B: List of Rare Diseases Rare caregivers were asked to indicate what rare disease, illness, or condition their care recipient had from a list of over 6,000 potential rare diseases. Below is a

More information

PRE-IMPLANTATION GENETIC DIAGNOSIS AND ASSISTED REPRODUCTIVE TECHNOLOGY IN HAEMOPHILIA DR PENELOPE FOSTER

PRE-IMPLANTATION GENETIC DIAGNOSIS AND ASSISTED REPRODUCTIVE TECHNOLOGY IN HAEMOPHILIA DR PENELOPE FOSTER PRE-IMPLANTATION GENETIC DIAGNOSIS AND ASSISTED REPRODUCTIVE TECHNOLOGY IN HAEMOPHILIA DR PENELOPE FOSTER WHAT IS PGD? early embryo diagnosis allows identification of gender or abnormal gene can select

More information

Patterns of Single-Gene Inheritance Cont.

Patterns 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 information

Metabolic Disorders Screened Overseas but not Screened in Australia Condition Features Inherited Diagnosis Treatment Newborn Screen

Metabolic Disorders Screened Overseas but not Screened in Australia Condition Features Inherited Diagnosis Treatment Newborn Screen Metabolic Disorders ed Overseas but not ed in Australia Biotinidase Deficiency Severe form causes seizures & delay Biotin can prevent complications NZ, USA Tyrosinaemia Type I Coma & death before age 10

More information

Lumbosacral plexus lesion Lumbosacral plexus disorders G54.1 Neuralgic amyotrophy Neuralgic amyotrophy G

Lumbosacral plexus lesion Lumbosacral plexus disorders G54.1 Neuralgic amyotrophy Neuralgic amyotrophy G ICD-9-CM and ICD-10-CM NEUROMUSCULAR DIAGNOSIS CODES Focal Neuropathy ICD-9-CM ICD-10-CM Mononeuropathy G56.00 Carpal tunnel syndrome 354.00 Other median nerve lesion 354.10 Lesion of ulnar nerve 354.20

More information

Table of Contents. Preface... xi. Part I: Introduction to Movement Disorders

Table of Contents. Preface... xi. Part I: Introduction to Movement Disorders Table of Contents Visit www.healthreferenceseries.com to view A Contents Guide to the Health Reference Series, a listing of more than 14,000 topics and the volumes in which they are covered. Preface...

More information

Date of commencement: February Principal Investigator Dr. Jayesh J. Sheth CASE RECORD FORM

Date of commencement: February Principal Investigator Dr. Jayesh J. Sheth CASE RECORD FORM ICMR-FRIGE-MULTICENTRIC LSDs Project Foundation for Research in Genetics & Endocrinology [FRIGE], FRIGE House, Jodhpur Gam road, Satellite, Ahmedabad-380015 Tel no: 079-26921414, Fax no: 079-26921415 E-mail:

More information

Unusual Modes of Inheritance. Wayne Lam

Unusual Modes of Inheritance. Wayne Lam Unusual Modes of Inheritance Wayne Lam wayne.lam@ed.ac.uk New Genetics Non-Mendelian Genomic Imprinting Digenic Inheritance Triallelic inheritance Mitochondrial Inheritance Chromosomal Telomeric deletions

More information

Approach to Intellectual Disability

Approach to Intellectual Disability Approach to Intellectual Disability Dr Prajnya Ranganath Definition Significant sub-average intellectual function existing concurrently with deficits in adaptive behaviour and manifested during the developmental

More information

Neuroradiological Imaging Techniques in Pediatric Neurology

Neuroradiological Imaging Techniques in Pediatric Neurology Neuroradiological Imaging Techniques in Pediatric Neurology Rajan Patel, MD Director, Pediatric Neuroimaging Assistant Professor, Division of Neuroradiology DISCLOSURE No financial disclosure. LEARNING

More information

Survey of prenatal testing for genetic disorders in Japan: Recent report

Survey of prenatal testing for genetic disorders in Japan: Recent report doi:10.1111/jog.12948 J. Obstet. Gynaecol. Res. Vol. 42, No. 4: 375 379, April 2016 Survey of prenatal testing for genetic disorders in Japan: Recent report Takahiro Nobuzane 1, Takahiro Yamada 2,KiyonoriMiura

More information

Presentation and investigation of mitochondrial disease in children

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

More information

Role of Molecular Genetic Assessment for Autism in Clinical Setting

Role of Molecular Genetic Assessment for Autism in Clinical Setting Role of Molecular Genetic Assessment for Autism in Clinical Setting Young Shin Kim, MD, MS, MPH, PhD Director STAR Center for ASD and NDDs Psychiatric Genetic Epidemiology Associate Professor Dept. of

More information

Is my child going backwards in development? An overview of Neuro-degenerative Disorders of Childhood.

Is my child going backwards in development? An overview of Neuro-degenerative Disorders of Childhood. Is my child going backwards in development? An overview of Neuro-degenerative Disorders of Childhood. - By Dr.Ratnakar.P.Kini M.D. Pediatrician Objectives: The learner will be able to explain - What neuro

More information

The role of the laboratory in diagnosing lysosomal disorders

The role of the laboratory in diagnosing lysosomal disorders The role of the laboratory in diagnosing lysosomal disorders Dr Guy Besley, formerly Willink Biochemical Genetics Unit, Manchester Children s Hospital, Manchester M27 4HA, UK. Lysosomal disorders What

More information

Mutations 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? 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 information

Genetic Disorders. and. blood vessels the and. How many genes are affected by this deletion? Turner s Syndrome- An incomplete or missing chromosome

Genetic Disorders. and. blood vessels the and. How many genes are affected by this deletion? Turner s Syndrome- An incomplete or missing chromosome Genetic Disorders A genetic disorder is an abnormality in the. They can range for a deletion of a gene to the deletion of an entire chromosome. List the types of genetic disorders. Williams Syndrome- A

More information

Click on Karyotyping under human biology and read the Introduction page: 1. What causes a dark band on the chromosome?

Click on Karyotyping under human biology and read the Introduction page: 1. What causes a dark band on the chromosome? Karyotyping Activity Name: In this activity, you will use a computer model to look at chromosomes and prepare a karyotype. You will diagnose patients for abnormalities and learn the correct notation for

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Allogeneic Hematopoietic Transplant for Genetic Diseases and File Name: Origination: Last CAP Review: Next CAP Review: Last Review: allogeneic_hematopoietic_transplant_for_genetic_diseases

More information

Recognizable Patterns of Malformation Chromosomal Abnormality Syndromes Down Syndrome Trisomy 18 Syndrome Trisomy 13 Syndrome Trisomy 8 Syndrome

Recognizable Patterns of Malformation Chromosomal Abnormality Syndromes Down Syndrome Trisomy 18 Syndrome Trisomy 13 Syndrome Trisomy 8 Syndrome Recognizable Patterns of Malformation Chromosomal Abnormality Syndromes Down Syndrome Trisomy 18 Syndrome Trisomy 13 Syndrome Trisomy 8 Syndrome Trisomy 9 Mosaic Syndrome Triploidy Syndrome and Diploid/Triploid

More information

Case 1B. 46,XY,-14,+t(14;21)

Case 1B. 46,XY,-14,+t(14;21) Case 1B 46,XY,-14,+t(14;21) G-banded Chromosome telomere centromere G-dark bands AT-rich few genes G-pale bands GC-rich many genes telomere ideograms ideograms Conventional (light microscopy) p = short

More information

Learn the steps to identify pediatric muscle weakness and signs of neuromuscular disease.

Learn the steps to identify pediatric muscle weakness and signs of neuromuscular disease. Learn the steps to identify pediatric muscle weakness and signs of neuromuscular disease. Listen Observe Evaluate Test Refer Guide for primary care providers includes: Surveillance Aid: Assessing Weakness

More information

Gene Expression and Mutation

Gene Expression and Mutation Gene Expression and Mutation GENE EXPRESSION: There are hormonal and environmental factors that may cause the expression of some genetic information. Some examples are: 1. The two- colour pattern of some

More information

Formal Genetics of Humans: Modes of Inheritance. Dr. S Hosseini-Asl

Formal Genetics of Humans: Modes of Inheritance. Dr. S Hosseini-Asl Formal Genetics of Humans: Modes of Inheritance Dr. S Hosseini-Asl 1 Autosomal dominant (AD) a: Wild type (Wt) allele A: Mutant allele aa: Normal phenotype Aa: Affected (heterozygous) AA: Affected (homozygous)

More information

Coagulation factor VII deficiency. Hemophilia A (German Shepherd Dog, type 1) Pyruvate kinase deficiency (Labrador Retriever type)

Coagulation factor VII deficiency. Hemophilia A (German Shepherd Dog, type 1) Pyruvate kinase deficiency (Labrador Retriever type) Blood and Clotting Coagulation factor VII deficiency Elliptocytosis Hemophilia A (German Shepherd Dog, type 2) Pyruvate kinase deficiency (Labrador Retriever type) Thrombopathia (American Eskimo Dog type)

More information

Medical Policy Preimplantation Genetic Testing

Medical 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 information

Inheritance and the muscular dystrophies

Inheritance and the muscular dystrophies Inheritance and the muscular dystrophies This leaflet provides a brief summary of the genetics of the muscular dystrophies. An understanding of their inheritance patterns makes it possible for families

More information