AGSA News & Events
AGSA invites you to attend our special seminar on
“Research on the Unmet Needs in the Rare Diseases Community”
The challenges of the many transitions to adulthood!
to be held within the:
2013 PossABLE IDEAS EXPO
on Saturday 4th May 2013
2.15pm – 3.30 pm – Venue: Green Room
NEWCASTLE ENTERTAINMENT CENTRE
Many of you contacted AGSA some time ago and we are looking forward to catching up with you again to learn more about your needs and experiences. AGSA aims to provide greater support and information for individuals and carers of this unique group, living in the Hunter Region.
Guest Speakers
Dianne Petrie OAM – Director, AGSA - Welcome & Overview
Dr Himanshu Goel, Clinical Geneticist, Hunter Genetics – “Genetics Today - Advances in Genetics Research & Testing”
Personal Story to be advised
Catherine Spinks, Genetic Counsellor – AGSA’s Research Assistant – Outline of research project & focus group
We look forward to seeing you there!
Chromosome 18 Registry & Research Society (Aust) Inc Conference
Saturday 24th, and Sunday 25th August 2013
The Chromosome 18 Registry & Research Society (Aust) Inc Conference will be held in Sydney on Saturday 24 and Sunday 25th August 2013 at the Mercure Sydney Hotel. Guest presenters will be Dr Jannine Cody and Dr Dan Hale from the Chromosome 18 Clinical Research Center, San Antonio, Texas, USA. Chromosome 18 disorders include 18q deletion, 18p deletion, Ring 18, Tetrasomy 18, Trisomy 18, Pitt-Hopkins Syndromes and other variations on Chromosome 18. Families interested in attending should contact This e-mail address is being protected from spambots. You need JavaScript enabled to view it or +61.2.9580.5707.
Event Details: http://www.chromosome18.org
Porphyria Patient Day
Saturday, 18 May 2013, 08:30am - 04:30pm
The Porphyria Patient Day, which will be held on Saturday, May 18th, 2013 as part of the International Congress of Porphyrins and Porphyrias at the conference center KKL in Lucerne, Switzerland, is approaching.
For more information please read this event flyer
Location Switzerland
Contact www.porphyrinsandporphyrias.org
Beckwith Wiedemann Syndrome (BWS)
Conference 2013 Sydney Australia
Date: 30 October – 1 November, 2013
Venue: Novotel Sydney, Parramatta
350 Church Street
Parramatta NSW 2150
Guardianship and alternatives for decision-making support
An Issue Brief from the National Health Care Transition Centre
Rare Disease Blog Article -
Glybera Becomes First-ever Gene Therapy
Approved in Europe
According to a report on the BBC News web site today, the European Commission has — for the very first time anywhere in the Western world — given final approval to market a gene therapy that corrects an inborn error of metabolism for the treatment of any type of human genetic disorder.
+ Read More (NORD Rare Disease Blog)
Genetics in Family Medicine - Resource for GP's
Genetics in Family Medicine: The Australian Handbook for General practitioners
In late 2004, The Australian Government agency Biotechnology
A good starting point is Genetics at a Glance. The handbook includes a wealth of
Announcement: NF1 Patient Registry Initiative
The Washington University Neurofibromatosis Center has launched a unique internet-based NF Registry (NF1 Patient Registry Initiative) that will collect medical information to help physicians and researchers better understand the spectrum of medical problems found in children and adults with NF1. All individuals with a diagnosis of NF1 are eligible to complete the 30-minute online questionnaire.
The information collected from the NF1 Registry will be used to better characterize the relationships between specific problems in NF1. In particular, researchers hope to better understand correlations between NF1 and cancer, heart problems, allergies, depression, and learning disabilities. The Washington University NF1 Registry will enable studies that aim to identify children and adults at greatest risk for specific medical problems in NF1. These studies may help clinicians to develop personalized treatment strategies that improve the quality of life for individuals living with NF1. All information is housed on a secure server in compliance with established HIPAA guidelines.
+ To access the registry, go to https://nf1registry.wustl.edu/
Podcast with Ron Fleischer on 2ser 107.3fm
Understanding Genetic Conditions
Listen to the podcasts with Ron Fleischer talking about rare genetic conditions featured on 2SERs (107.3) Tuesday Daily show:
+ Click here to access Week 1 through to Week 7 podcasts(genetics.edu.au)
Y the X? Unravelling intellectual disability and autism
by Gillian Turner
This book reveals the approach by which the major causes of intellectual handicap have been discovered over the last fifty years.
Order your copy online at:
Click here for more information
Ryde Area Supported Accomodation (RASAID) in the news
From Northern District Times:
"NORTHERN district parents who care for a disabled adult child popped champagne corks last week after seven years of riding a “rollercoaster of hope and despair”.
Ageing members of the Ryde Area Supported Accommodation for Intellectually Disabled (RASAID) were worried about who would look after their child once they died.
But now their wish for suitable supported accommodation for their children has been granted."
Full Story: http://northern-district-times.whereilive.com.au/news/story/welcome-home-funding/