Australian Angelman Syndrome Research
Click below for the latest information on AS research
Clinical summary of breakthrough in Angelman syndrome research by Professor Bernard Dan. 7th February 2012
Please Support our AS Research in Australia
Donations to: Research Account – this is held at the Children’s Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145 Australia. Donations made to this account are tax deductible and you will get a receipt. Cheques must be made payable to – The Children’s Hospital at Westmead. This is necessary for the fund raising department’s accounting system and for you to claim it as a tax.deduction. Please accompany the cheque with a covering letter, with your name and address, stating that the money is specifically for the Angelman Syndrome Research Account, or Dr. Ellie Smith in Cytogenetics. Please state the account no. 691904.
In the past in Australia, collaboration with the genetics laboratory at the University of Sydney, headed by Professor Ron Trent, has identified several families with UBE3A mutation, milder phenotype for patients with UPD and various new DNA markers. See below for some of the grants obtained and Australian publications we have had.
There are several possibilities for AS research in Australia – for example an AS Database. There is currently no collective information available on AS in Australia – neither the frequency, age at diagnosis, family studies or common complications in our patients. So, a really worthy project would be to set up and maintain a data base of all patients. This would provide several answers to frequently asked questions, one of which is "how many people with AS are there in Oz?" With follow up information recorded, it would provide a valuable resource for the natural history of AS in our society – what level of achievement is reached, surgical interventions required, improvement or otherwise of epilepsy, living accommodation and medical problems which could arise, life span, to name a few. A most interesting question is – are there any symptoms which occur with age which are not yet described or known – i.e. rare manifestations?
Routine UBE3A gene Testing for Certain Patients.
Chromosome 15(q11-13) is a complex genetic region, involving imprinting. AS arises from either a deletion (70%), UPD (5%), an imprinting centre (IC) defect (5%) or a mutation (change) in the UBE3A gene for AS (10%), other epigenetic mechanism in 10%. The deletion, UPD and IC defect can be readily ascertained: the 10% with possible UBE3A mutation require additional testing.
UBE3A Testing in Australia
For the first time in Australia, testing for the UBE3A gene sequencing is now available through the Mater Health Services Pathology in Brisbane, Queensland. This is a fee-for-service testing. Please refer to your Geneticist / Paediatrician to order this test.
Information for Paediatricians/Geneticists/Laboratories:
Queries regarding the UBE3A gene sequencing can be directed the following contacts at the Department of Pathology, Mater Health Services Brisbane:
Dr David M. Cowley FRCPA, FHGSA,
Director of Chemical Pathology
Mr Ivan McGown MHGSA,
Supervising Scientist, Molecular Genetic
Telephone: 07 3163 8500
Australian Research Achievements & Grants
1995-6 Australian - European Awards Program - 2 year - for "DNA Methylation Testing in Angelman Syndrome", with Dr. Tina Buchholz, Germany.
1992 – 1996 NHMRC - 5 years - with Professor R Trent "Molecular Studies in the Prader-Willi and Angelman Syndrome".
1991- 2 Clive and Vera Ramaciotti Foundations grant - with Prof. R Trent "Development of the in-situ hybridisation technique to study the PWS and AS”.