Conny van Ravenswaaij, MD, PhD

Professor of Clinical Dysmorphology, with special attention for genome analysis

PhD thesis: "Heart rate variability: physiology and clinical applicability in very preterm infants", 1993, Radboud University Nijmegen
Inaugural lecture: "Bruggen bouwen in de genetica: van patiënt naar genoom en weer terug", 15 May 2012, University of Groningen, full text (in Dutch)

Tel: +31-(0)50-3617229
Email

Publications: GoogleScholar, PubMed

News

March-April 2019 - Conny will spend her sabbatical walking the Camino de Santiago de Compostela and raising money for C6 research. See here for updates and how to support the project.
Dec 2017 - Guest editor of American Journal of Medical Genetics' seminar issue on "New Insights and Advances in CHARGE Syndrome: Diagnosis, Etiologies, Treatments, and Research Discoveries", 2017;vol 175C (4), including several papers by the Van Ravenswaaij research group.
June 2016 - Awarded honorary membership by the German CHARGE Syndrome group
October 2015 - Contrary, tenacity and breakthroughs Interview with Conny van Ravenswaaij
"It’s becoming more difficult to publish research on rare disorders.”
...while it may be all well and good to gather data about genetics and do research, in the end, such research needs to benefit patients. In the case of Van Ravenswaaij, that means patients and their parents: she specializes in children who have rare chromosomal abnormalities. ...more. Translated from a book published by ZonMw, written by Frans Meulenberg, October 2015
August 2015 - Awarded a Stars-in-CHARGE: a crystal star engraved with the CHARGE Foundation's logo and recipient's name. This is the Foundation’s highest award and is given for significant contributions over a long period of time. Video of Conny van Ravenswaaij discussing her C6 research, recorded after attending the 12th International CHARGE Syndrome Conference in Chicago
June 2015 - ‘Publiceren over postzegels is steeds lastiger’ (in dit geval over bijzondere gevallen/ziektebeelden), een hoofdstuk in Dwarsdenken en Doordouwen (in Dutch) "...genetische kennis vergaren en onderzoek doen zijn prima, maar uiteindelijk moet het onderzoek ten goede komen aan de patiënt. In het geval van Van Ravenswaaij zijn dat patiënt én ouders, omdat zij is gespecialiseerd in kinderen met zeldzame chromosoomafwijkingen." Tekst: ZonMw, Frans Meulenberg, pdf van hoofdstuk over Conny van Ravenswaaij.
March 2015 - Expertisecentra zeldzame aandoeningen: op weg naar Europees keurmerk. Voor patiënten met een zeldzame aandoening is het essentieel dat ze weten waar ze de beste zorg kunnen krijgen. ... De EU bepaald dat er expertisecentra moeten komen waarvan de kwaliteit gegarandeerd is en die onderling goed samenwerken aan zorg en onderzoek. Hoogeleraar Connie van Ravenswaaij is er blij mee: “Patiënten hebben behoefte aan een plek waar men meteen begrijpt wat er met ze aan de hand is.” Meer

My work

I graduated in medicine at the University of Leiden, the Netherlands (1986) and, after my paediatric internships, I started a PhD study on the surveillance of preterm newborns. My thesis was entitled "Heart rate variability: physiology and clinical applicability in very preterm infants". In 1992 I started a specialisation in clinical genetics in Nijmegen and became registered as a clinical geneticist (1997) and clinical cytogeneticist (2002).

My main interest has always been children with multiple congenital anomalies and chromosome disorders, including disorders of sexual differentiation. Together with Prof. Albert Schinzel and others, I have initiated a European project on rare chromosome disorders (www.ECARUCA.net).

I am also interested in new molecular cytogenetic techniques to find small chromosome aberrations in children with mental retardation and/or congenital anomalies. The development of the array CGH technique offers new research possibilities and these have led to many phenotype-genotype studies in chromosome disorders and to the discovery of the CHD7 gene involved in CHARGE syndrome.

In 2006 I moved to the University Medical Centre Groningen, where I have continued my two multi-disciplinary outpatient clinics (for rare chromosome disorders and for CHARGE syndrome) and my studies into these syndromes. I am also involved in a multi-disciplinary team for disorders of sexual differentiation and in pre-implantation genetic diagnosis. In 2008 I became an associate professor in clinical genetics and, in 2011, I was appointed to a chair in Clinical Dysmorphology at the University of Groningen.

My main focus is the identification of genetic causes for syndromes and congenital anomalies using state-of-the-art high resolution molecular techniques, implementing these techniques in routine diagnostics, and translating the results back to patients and their families. In November 2011, I was awarded a ZonMw grant (Eur 212,000) to investigate how intranasal insulin aids the development and behaviour of children with Phelan-McDermid syndrome.

Ongoing research projects

Clinical cytogenetics: Phenotype-genotype studies, interpretation of array CGH results, genetic causes of male infertility, international databases (ECARUCA)
Microcephaly: Finding genetic causes of microcephaly by whole-exome sequencing and by studies on extended, consanguineous families
SNP-haplotyping and whole-exome sequencing in familial syndromes
Chromosome 6 research : Parent-driven project on 6q deletions and duplications, aiming to make a detailed genotype-phenotype map. In this phenotype-genotype study we try to relate certain genetic deletions or duplications on chromosome 6q to clinical features (e.g. development, behaviour and health, MRI brain scan, heart ultrasound).
CHARGE syndrome and CHD7 gene : Clinical and embryological overlap between CHARGE syndrome and Kallmann syndrome, classification of congenital heart defects in CHARGE syndrome, and CHD7 sequencing in congenital heart defects, cranial nerve defects, hearing and swallowing in CHARGE syndrome, exome-sequencing in CHARGE syndrome patients without a CHD7 mutation, interpretation of CHD7 missense mutations.
Phelan-McDermid syndrome : Intranasal insulin and the development and behaviour of children with Phelan-McDermid syndrome.
Genetic screening in children with epilepsy: Early and broad genetic screening of children with epilepsy using targeted next-generation sequencing. Aiming to improve diagnosis and quality of care

Abnormal Neurological Development - Early Diagnosis and Intervention (ANDDI)

The ANDDI research programme will study early diagnosis and intervention in children with abnormal neurological development in a multidisciplinary setting and cover all aspects, including aetiology, pathogenesis, epigenetics, diagnostic applications, accurate phenotyping (dysmorphology, neuroradiology, orthopedagogy) and intervention (diet, medication, etc.). The programme is part of the BCN-Brain Institute and of the Graduate School Medical Sciences, Groningen. See also Genetic screening in children with epilepsy
Leaders: C.M.A. van Ravenswaaij-Arts and T.J. de Koning

Two national, multi-disciplinary outpatient clinics in the UMCG

Clinic for children with rare chromosomal disorders, in collaboration with Dept of Paediatrics. (See also Five genes per minute programme)
Clinic for children with CHARGE syndrome. This is an expert clinic in which many specialists are involved; clinical geneticists, ENT, paediatricians, (paediatric) endocrinologists, (paediatric) cardiologists, child psychiatrists, gynaecologists, and ophthalmologists.

Besides my work as a clinical geneticist, I am involved in a number of parent support groups (CHARGE, Wolf-Hirschhorn syndrome, European 11q, Rare chromosome disorders). I am also a member of the Quality Committee of the European Society of Human Genetics, and an associate editor of the European Journal of Medical Genetics.

Selected recent papers

See all papers by CMA van Ravenswaaij in GoogleScholar, PubMed

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries Conny van Ravenswaaij-Aarts, Donna M. Martin. Am J Med Gen C. 2017 175C:397–406. doi: 10.1002/ajmg.c.31592
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts Wong MT, van Ravenswaaij-Arts CM, Munns CF, Hsu P, Mehr S, Bocca G. J Pediatr. 2016 Jun 16. doi: 10.1016/j.jpeds.2016.05.065.
Duplication 2p25 in a child with clinical features of CHARGE syndrome Sperry ED, Schuette JL, van Ravenswaaij-Arts CM, Green GE, Martin DM. Am J Med Genet A. 2016 May;170(5):1148-54. doi: 10.1002/ajmg.a.37592.
Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children Zwanenburg RJ, Ruiter SA, van den Heuvel ER, Flapper BC, Van Ravenswaaij-Arts CM. J Neurodev Disord. 2016 Apr 26;8:16. doi: 10.1186/s11689-016-9150-0.
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B. BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8.
MTY Wong, EH Schölvinck, AJA Lambeck, CMA van Ravenswaaij-Arts. CHARGE syndrome: a review of the immunological aspects. Eur J Human Genetics 2015
CMA van Ravenswaaij-Arts, K Blake, L Hoefsloot, A Verloes. Clinical utility gene card for: CHARGE syndrome-update 2015. Eur J Human Genetics 2015
P Rump, N de Leeuw, AJ van Essen, CC Verschuuren‐Bemelmans, et al. Central 22q11. 2 deletions. American J Medical Genetics Part A 2014;164 (11), 2707-2723
N Corsten‐Janssen, GJ du Marchie Sarvaas, WS Kerstjens‐Frederikse, et al. CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. American J Medical Genetics Part A 2014;164 (12), 3003-3009
M Claustres, V Kožich, E Dequeker, B Fowler, JY Hehir-Kwa, K Miller, et al. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Human Genetics 2014;22 (2), 160-170
Hoefsloot LH, Corsten-Janssen N, van Ravenswaaij-Arts CMA. Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes. Expert Rev Mol Diagn. 2012 Nov;12(8):795-7
Van Ravenswaaij-Arts, CMA and Hoefsloot, LH. Molecular Genetics of CHARGE Syndrome. In: eLS 2012, (November 2012) John Wiley & Sons Ltd: Chichester. www.els.net/ DOI: 10.1002/9780470015902.a0024289
Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Mutation update on the CHD7 gene involved in CHARGE syndrome . Hum Mutat 2012;33(8):1149-1160
Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CMA. Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. Eur J Hum Genet 2012;20:161-165

Articles (in Dutch)

Expertisecentra zeldzame aandoeningen: op weg naar Europees keurmerk. Voor patiënten met een zeldzame aandoening is het essentieel dat ze weten waar ze de beste zorg kunnen krijgen. ... De EU bepaald dat er expertisecentra moeten komen waarvan de kwaliteit gegarandeerd is en die onderling goed samenwerken aan zorg en onderzoek. Hoogeleraar Connie van Ravenswaaij is er blij mee: “Patiënten hebben behoefte aan een plek waar men meteen begrijpt wat er met ze aan de hand is.” Meer , Interview in UMCG Polsslag, maart 2015
'Foutjes' in chromosomen , De Telegraaf, 26 juli 2014, door Denise Hoogland
Onderzoek naar zeldzame aandoening, met een beetje hulp van vrienden op Facebook , Kennis in Zicht, UMCG, 22 juli 2014
Bruggenbouwers - bruggen tussen de genetica en de patienten, hun familie en hulpverleners. Artikel door Conny van Ravenswaaij in Jij&Ik, het magazine voor mensen met een zeldzame aandoening. Nr 1/Zomer 2013, blz 72-74. Uitgever Stichting Chromosome Foundation.
Test toont meer ziektes dan patiënt wellicht wil weten , opinie artikel, Dagblad van het Noorden, Juni 2012

Older news items

August 2014: New GEO (Groningen Expertisecentrum Ontwikkelingsachterstand/Groningen Expert Centre for Development Delay) outpatient clinic starts in UMCG More (in Dutch)
July 2014: Onderzoek naar zeldzame aandoening, met een beetje hulp van vrienden op Facebook, UMCG Kennis in Zicht (in Dutch)
June 2014: Screening an asymptomatic person for genetic risk. Discussion in New England Journal of Medicine, June 2014
Feb 2014: The cause of brain defects in CHARGE syndrome identified,