research

clinical genetics research

summary

Our group was established in 2006 with the aim of developing research at Murdoch Childrens Research Institute within the field of Clinical Genetics. Our investigation focuses on creating greater knowledge and understanding about genetic conditions, with a long term aim of benefiting individuals and families with these conditions through improved diagnosis, counselling and treatment.

group leader(s)

David AmorA/Professor David Amor
Genetic Health Services Victoria
Royal Children's Hospital
Flemington Road
Parkville VIC 3052

T   +61 3 8341 6293
F   +61 3 8341 6390
E   david.amor@mcri.edu.au

group leader biography

current research projects

Project 1: Accelerated Gene Identification Project

Each year almost 8 million children, about 6% of births worldwide, are born with a serious birth defect of genetic origin, for over half of these conditions, the genetic cause remains unknown. This study aims to understand the cause of these genetic conditions using a new sophisticated genetic technology called 'SNP microarray'. Such technology compares the genetic material (DNA) between individuals in a family affected by the condition. Utilising this research allows us to expand our current clinical services to facilitate quicker diagnosis and more extensive genetic counselling for families with rare genetic conditions. We are a multi-disciplinary team consisting of clinicians, researchers, biostatisticians and genetic counsellors, based at the Murdoch Childrens Research Institute and Genetic Health Services Victoria located at The Royal Children's Hospital, and the nearby Walter & Eliza Hall Institute of Medical Research. visit the site

Project 2: Natural history of genetic syndromes

We are interested in studying individuals with genetic conditions through different stages of life. By following these individuals through infancy, childhood, adolescence and adulthood, we hope to better understand the genetic conditions and their outcomes on affected individuals and their families.

Project 3: Pharmacogenetic Study of Antiepileptic Drugs

We are studying patients with epilepsy who take the antiepileptic drugs, valproate and carbamazepine. One in 100 people have epilepsy at any given time and drug side-effects, or lack of response to taking the drug, represent an important clinical problem. We are studying some of the genes that influence the way these drugs work and we hope to find genetic tests that will determine which drugs are best for each individual patient. We have already found several genes involved in epilepsy which seem to influence cognitive function and the effectiveness of therapy.

team members

  • Elyssia Bourke - BMedSci(Hons) (Monash Psych)
  • Miriam Fanjul Fernandes - OBSERVER
  • Clara Gaff - HONORARY RESEARCH FELLOW
  • Greta Gillies - Research Assistant
  • Melody Menezes - Research Assistant
  • Dean Phelan - PhD Student (UoM Paeds)
  • Kate Pope - Clinical Research Coordinator
  • Jessica Riseley - Volunteer
  • Nicholas Salce - Honours Student (UoM Paeds)
  • Joe Sim - Post Doctoral Fellow
  • Maddy Smith - Undergrad Placement (Deakin BBioMedSci)

publications

  • Andreucci E., Aftimos S., Alcausin M., Haan E., Hunter W., Kannu P., Kerr B., McGillivray G., Gardner RJM., Patricelli MG., Sillence D., Thompson E., Zacharin M., Zankl A., Lamande SR., Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. ORPHANET JOURNAL OF RARE DISEASES 6 (2011) PubMed
  • Bonacquisto L. Antenatal screening - the first and second trimester. AUSTRALIAN FAMILY PHYSICIAN 40 (10) : 785 - 787(2011) PubMed
  • Bruno DL., Stark Z., Amor DJ., Burgess T., Butler K., Corrie S., Francis D., Ganesamoorthy D., Hills L., James PA., O'Rielly D., Oertel R., Savarirayan R., Prabhakara K., Salce N., Slater HR. Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays. HUMAN MUTATION 32 (12) : 1500 - 1506(2011) PubMed
  • Bruno DL., White SM., Ganesamoorthy D., Burgess T., Butler K., Corrie S., Francis D., Hills L., Prabhakara K., Ngo C., Norris F., Oertel R., Pertile MD., Stark Z., Amor DJ., Slater HR. Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. JOURNAL OF MEDICAL GENETICS 48 (12) : 831 - 839(2011) PubMed
  • Eastaugh LJ., James PA., Phelan DG., Davis AM. Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification. Journal of Cardiovascular Electrophysiology 22 (9) : 1073 - 1076(2011) PubMed
  • Farrar MA., Vucic S., Lin CSY., Park SB., Johnston HM., du Sart D., Bostock H., Kiernan MC. Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy. BRAIN 134 : 3185 - 3197(2011) PubMed
  • Fernando H., Bassler N., Habersberger J., Sheffield LJ., Sharma R., Dart AM., Peter KH., Shaw JA. Randomised Double Blind Placebo Controlled Crossover Study to Determine the Effects of Esomeprazole on Inhibition of Platelet Function by Clopidogrel. Journal of Thrombosis and Haemostasis 9 (8) : 1582 - 1589(2011) PubMed
  • Godler DE., Slater HR., Bui QM., Ono M., Gehling F., Francis D., Amor DJ., Hopper JL., Hennerich D., Hagerman R., Loesch DZ. FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles. Journal of Molecular Diagnostics 13 (5) : 528 - 536(2011) PubMed
  • Gordon L., Joo JHE., Andronikos R., Ollikainen M., Wallace EM., Umstad MP., Permezel M., Oshlack A., Morley R., Carlin JB., Saffery R., Smyth GK., Craig JM. Expression discordance of monozygotic twins at birth Effect of intrauterine environment and a possible mechanism for fetal programming. EPIGENETICS 6 (5) : 579 - 592(2011) PubMed
  • Ingles J., Zodgekar PR., Yeates L., Macciocca I., Semsarian C., Fatkin D. Guidelines for Genetic Testing of Inherited Cardiac Disorders. HEART LUNG AND CIRCULATION 20 (11) : 681 - 687(2011) PubMed
  • James PA., Rose K., Francis D., Norris F. High-level 46XX/46XY chimerism without clinical effect in a healthy multiparous female. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155 (10) : 2484 - 2488(2011) PubMed
  • Lamandé SR., Yuan Y., Gresshoff IL., Rowley L., Belluoccio D., Kaluarachchi K., Little CB., Botzenhart E., Zerres K., Amor DJ., Cole WG., Savarirayan R., McIntyre P., Bateman JF. Mutations in TRPV4 cause an inherited arthropathy of hands and feet. NATURE GENETICS 43 (11) : 1142 - 1146(2011)
  • Lasocki AL., Stark Z., Orchard D. A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. AUSTRALASIAN JOURNAL OF DERMATOLOGY 52 (1) : 48 - 51(2011) PubMed
  • McHugh DMS., Cameron CA., Abdenur JE., Abdulrahman M., Adair O., Al Nuaimi SA., Ahlman H., Allen JJ., Antonozzi I., Archer S., Au S., Auray-Blais C., Baker M., Bamforth F., Beckmann K., Pino GB., Berberich SL., Binard R., Boemer F., Bonham J., Breen NN., Bryant SC., Caggana M., Caldwell SG., Camilot M., Campbell C., Carducci C., Cariappa R., Carlisle C., Caruso U., Cassanello M., Castilla AM., Ramos DEC., Chakraborty P., Chandrasekar R., Ramos AC., Cheillan D., Chien YH., Childs TA., Chrastina P., Sica YC., de Juan JAC., Colandre ME., Espinoza VC., Corso G., Currier R., Cyr D., Czuczy N., D'Apolito O., Davis T., de Sain-Van der Velden MG., Pecellin CD., Di Gangi IM., Di Stefano CM., Dotsikas Y., Downing M., Downs SM., Dy B., Dymerski M., Rueda I., Elvers B., Eaton R., Eckerd BM., El Mougy F., Eroh S., Espada M., Evans C., Fawbush S., Fijolek KF., Fisher L., Franzson L., Frazier DM., Garcia LRC., Bermejo MSGV., Gavrilov D., Gerace R., Giordano G., Irazabal YG., Greed LC., Grier R., Grycki E., Gu XF., Gulamali-Majid F., Hagar AF., Han LS., Hannon WH., Haslip C., Hassan FA., He MA., Hietala A., Himstedt L., Hoffman GL., Hoffman W., Hoggatt P., Hopkins PV., Hougaard DM., Hughes K., Hunt PR., Hwu WL., Hynes J., Ibarra-Gonzalez I., Ingham CA., Ivanova M., Jacox WB., John C., Johnson JP., Jonsson JJ., Karg E., Kasper D., Klopper B., Katakouzinos D., Khneisser I., Knoll D., Kobayashi H., Koneski R., Kozich V., Kouapei R., Kohlmueller D., Kremensky I., la Marca G., Lavochkin M., Lee SY., Lehotay DC., Lemes A., Lepage J., Lesko B., Lewis B., Lim C., Linard S., Lindner M., Lloyd-Puryear MA., Lorey F., Loukas YL., Luedtke J., Maffitt N., Magee JF., Manning A., Manos S., Marie S., Hadachi SM., Marquardt G., Martin SJ., Matern D., Gibson SKM., Mayne P., McCallister TD., McCann M., McClure J., McGill JJ., McKeever CD., McNeilly B., Morrissey MA., Moutsatsou P., Mulcahy EA., Nikoloudis D., Norgaard-Pedersen B., Oglesbee D., Oltarzewski M., Ombrone D., Ojodu J., Papakonstantinou V., Reoyo SP., Park HD., Pasquali M., Pasquini E., Patel P., Pass KA., Peterson C., Pettersen RD., Pitt JJ., Poh S., Pollak A., Porter C., Poston PA., Price RW., Queijo C., Quesada J., Randell E., Ranieri E., Raymond K., Reddic JE., Reuben A., Ricciardi C., Rinaldo P., Rivera JD., Roberts A., Rocha H., Roche G., Greenberg CR., Mellado JME., Juan-Fita MJ., Ruiz C., Ruoppolo M., Rutledge SL., Ryu EJ., Saban C., Sahai I., Garcia-Blanco MIS., Santiago-Borrero P., Schenone A., Schoos R., Schweitzer B., Scott P., Seashore MR., Seeterlin MA., Sesser DE., Sevier DW., Shone SM., Sinclair G., Skrinska VA., Stanley EL., Strovel ET., Jones ALS., Sunny S., Takats Z., Tanyalcin T., Teofoli F., Thompson JR., Tomashitis K., Domingos MT., Torres J., Torres R., Tortorelli S., Turi S., Turner K., Tzanakos N., Valiente AG., Vallance H., Vela-Amieva M., Vilarinho L., von Dobeln U., Vincent MF., Vorster BC., Watson MS., Webster D., Weiss S., Wilcken B., Wiley V., Williams SK., Willis SA., Woontner M., Wright K., Yahyaoui R., Yamaguchi S., Yssel M., Zakowicz WM. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. GENETICS IN MEDICINE 13 (3) : 230 - 254(2011) PubMed
  • Mefford HC., Rosenfeld JA., Shur N., Slavotinek AM., Cox VA., Hennekam RC., Firth HV., Willatt L., Wheeler P., Morrow EM., Cook J., Sullivan R., Oh A., McDonald MT., Zonana J., Keller K., Hannibal MC., Ball S., Kussmann J., Gorski J., Zelewski S., Banks V., Smith W., Smith R., Paull L., Rosenbaum KN., Amor DJ., Silva J., Lamb A., Eichler EE. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. JOURNAL OF MEDICAL GENETICS (2011)
  • Mill P., Lockhart PJ., Fitzpatrick E., Mountford HS., Hall EA., Reijns MAM., Keighren M., Bahlo M., Bromhead CJ., Budd P., Aftimos S., Delatycki MB., Savarirayan R., Jackson IJ., Amor DJ. Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis. American Journal of Human Genetics 88 (4) : 508 - 515(2011) PubMed
  • Rahman B., Macciocca I., Sahhar M., Kamberi S., Connell V., Duncan RE. Adolescents with Implantable Cardioverter Defibrillators: A Patient and Parent Perspective. Pacing and Clinical Electrophysiology 35 (1) : 62 - 72(2011) PubMed
  • Rieubland C., Holmes AD., Caramins M., Roscioli T., Amor DJ. Lambdoid Synostosis and Craniofacial Dysmorphism With Normal Intellect: A Novel Syndrome?. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (1) : 233 - 234(2011) PubMed
  • Smith KR., Bromhead CJ., Hildebrand MS., Shearer AE., Lockhart PJ., Najmabadi H., Leventer RJ., McGillivray G., Amor DJ., Smith RJ., Bahlo M. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biology (2011) PubMed
  • Stark Z., Gillessen-Kaesbach G., Ryan MM., Cirstea IC., Gremer L., Ahmadian MR., Savarirayan R., Zenker M. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. Clinical genetics (2011) PubMed
  • Stark Z., Storen R., Bennetts B., Savarirayan R., Jamieson RV. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. EUROPEAN JOURNAL OF HUMAN GENETICS 19 (7) : 753 - 756(2011) PubMed
  • Suthers GK., McCusker EA., Wake SA. Alerting genetic relatives to a risk of serious inherited disease without a patient's consent. MEDICAL JOURNAL OF AUSTRALIA 194 (8) : 385 - 386(2011) PubMed
  • Tan TY., Collins A., James PA., McGillivray G., Stark Z., Gordon CT., Leventer RJ., Pope K., Forbes R., Crolla JA., Ganesamoorthy D., Burgess T., Bruno DL., Slater HR., Farlie PG., Amor DJ. Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (7) : 1623 - 1633(2011) PubMed
  • Techanukul T., Sethuraman G., Zlotogorski A., Horev L., Macarov M., Trainer A., Fong K., Lens M., Medenica L., Ramesh V., McGrath JA., Lai-Cheong JE. Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome. ACTA DERMATO-VENEREOLOGICA 91 (3) : 267 - 270(2011) PubMed
  • White S., Ohnesorg T., Notini A., Roeszler K., Hewitt J., Daggag H., Smith C., Turbitt E., Gustin S., van den Bergen J., Miles D., Western P., Arboleda V., Schumacher V., Gordon L., Bell K., Bengtsson H., Speed T., Hutson J., Warne G., Harley V., Koopman P., Vilain E., Sinclair A. Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis. PLOS ONE 6 (3) (2011) PubMed
  • White SM., Fahey M. Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. Clinical genetics 155 (10) : 2512 - 2515(2011) PubMed
  • White SM., Hodgson J. Drawing attention to difference: Dilemmas in discussing dysmorphism with parents. JOURNAL OF PAEDIATRICS AND CHILD HEALTH 47 (11) : 763 - 765(2011)
  • Wilson CL., Fisher JR., Hammarberg K., Amor DJ., Halliday JL. Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART. HUMAN REPRODUCTION 26 (5) : 1209 - 1219(2011) PubMed
  • Wright EM., Suri M., White SM., de Leeuw N., Silfhout AT., Stewart F., McKee S., Mansour S., Connell FC., Chopra M., Kirk EP., Devriendt K., Reardon W., Brunner H., Donnai D. Pierpont syndrome: A collaborative study. American journal of medical genetics 155 (9) : 2203 - 2211(2011) PubMed