Clinical Genetics Research

Staff of the Department of Clinical Genetics are involved in clinical research to understand the genetic basis of rare Mendelian disorders in consanguineous families, neuromuscular diseases, vertebral malformations and other skeletal dysplasias. We are also involved in clinical trials of novel pharmacological therapies.

One of the rare genetic disorders we research is Marfan Syndrome, a heritable disorder of the connective tissues that can affect many organs and tissues of the body, including the musculoskeletal system, heart and vision. 

We work in collaboration with researchers within The Children’s Hospital at Westmead and externally, including the NSW Biochemical Genetics Service, NSW Newborn Screening Program and Sydney Genome Diagnostics.

The aim of our research is to provide accurate diagnosis of complex genetic diseases, and  allow prognosis and recurrence risk information to be provided to families. Ultimately, our goal is to translate our research findings  into delivery of new therapeutics to patients with rare genetic diseases.

The research team

> Associate Professor Meredith Wilson, Head of Department

Meredith is a Clinial Geneticist interested in syndrome diagnosis, delineation and clinical genomics. In 1998 she and colleague Dr David Mowat clinically delineated a rare genetic disorder, known as Mowat-Wilson disease, and has contributed to the identification of a number of different genetic syndromes. She is a member of the Australian Genomics Acute Care national working party, and has been instrumental in implementing the program in NSW, which commenced in 2018.

> Associate Professor Kristi Jones, Head of Neurogenetics services

Kristi is a staff specialist in the Department of Clinical Genetics and leads clinical trials for the Kids Neuroscience Centre for children with genetic neuromuscular disorders.

> Dr Lesley Ades, Marfan Syndrome Research Group Leader, email:

Lesley is a Clinical Geneticist with a specific research interest in Marfan Syndrome genetics and the the genetics of other rare childhood illnesses. More information can be found on her University of Sydney profile page.

> Other Research Team Members and Collaborators:

  • Associate Professor Veronica Wiley, Dept Head and Principal Scientist, NSW Newborn Screening Program
  • Dr Sarah Sandaradura
  • Kirsten Boggs, Genetic Counsellor

Key publications

Pacey V, Tofts L, Wesley A, Collins F, Singh-Grewal D (2015) Joint hypermobility syndrome: a review for clinicians. J Paediatr Child Health 51(4):373-80

Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J. Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Clin Genet doi: 10.1111/cge.12573. [Epub ahead of print]

Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC (2015) Frontometaphyseal dysplasia and keloid formation without FLNA mutations. Am J Med Genet 167(6):1215-22

Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, Lee CW, Chen PJ, Seng CC, Ariyaratne PN, Rouam SL, Soo LS, Yousoof S, Prokudin I, Peters G, Collins F, et al. (2014) Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS One 9(6):e90852

Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, et al. (2014) Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat 35(1):76-85

Ellaway C, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters G, Fagan K, Christodoulou J (2013) 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics 21(5), 522-527

Silove N, Collins F, Ellaway C (2013) Update on the investigation of children with delayed development. J Paediatr Child Health 49(7):519-25

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins Fet al. (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet 90(5):864-70

Faivre L, Collod-Beroud G, Ades L, Arbustini E, Child A, Callewaert B, Loeys B, Binquet C, Gautier E, Mayer K, et al (2012) The new Ghent criteria for Marfan syndrome: What do they change? Clinical Genetics 81(5), 433-442

Carmignac V, Thevenon J, Adès L, et al. (2012) In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet 91(5):950-7