- From the team
- Support group news
- In the media
- Conferences and seminars
- Seeking contact
- GSNV Calendar
From the team
Dear GSNV community,
I’m very excited to be the newest member of the GSNV team, joining in April this year. A little bit about me - I am a psychological researcher with experience in the onco-genomic setting. I completed a Bachelor of Arts (Honours in Psychology) at The University of Sydney. Since studying, I have further developed my interests in health psychology and biostatistics through my position as a member of the Psychosocial Onco-genomic Research Group at the Peter MacCallum Cancer Centre. Through this role, I have helped to generate research exploring the lived experiences of families with inherited cancer syndromes and I am engaged in the translation of genetic research findings into clinical practice.
Now, together with the GSNV staff and key stakeholder representatives, I am applying my experience and training in mixed research methodologies to design and conduct a comprehensive evaluation of the GSNV. The findings of this 12-month project will elucidate the needs of service users and inform organisational reform, ultimately enhancing the GSNV’s value within the genetics health community.
The 12-month project is on track with significant headway already achieved the first stage of the evaluation. Analysis of the GSNV internal database is now underway with special thanks to GSNV volunteer, Elaine Stackpoole, for her data cleaning assistance. Preliminary findings and a progress report will be provided in an up-coming edition of the newsletter.
Vale, Professor Richard Cotton
The GSNV wishes to acknowledge the passing of Professor Richard (Dick) Cotton. The GSNV has had the pleasure of working with Richard throughout the years and we'd like to acknowledge his exceptional contribution to the world of genetics health and genetic discovery.
Support group news
7th October 2015
Vision Hearing Support Club - Forum
Further information - contact Gary Daly email@example.com
. Visit the Able Australia website
. Updates will be posted here
13th October 2015
Hidden "Gems" Golf Day
Supporting the Sanfilippo Children's Foundation, the Hidden "Gems" Golf Day is a fund raiser for vital research funds to fund a clinical gene therapy trial for an effective treatment for Sanfilippo Syndrome. More info here
18th October 2015
Annual Information Day for those living with BRCA1/2 gene faults - Sydney
This is an information day with presentations from doctors, genetic counsellors and individuals. Conducted in an informal setting, the day gives people the opportunity to receive up to date information and the chance to share stories, to network and to ask questions. You can register either online
or by contacting Dianne (02 9295 8359, firstname.lastname@example.org
22nd October 2015
NDIS transition info session - Monash PSN Support Group (Mount St, Glen Waverley)
This session is aimed at assisting families prepare for transition to the NDIS:
- Basics of the NDIS, who, what & how it funds support
- Hear some of the current concerns and issues
- Look at ways you can prepare now, so you can be confident to negotiate the best package of supports for your family member
More info and book here
31st October 2015
A Heartfelt Thanks Gala Dinner
Held at The Vue, Docklands at 6:30pm with proceeds donated to the Cardiac Ward at The Royal Children's Hospital.
7th November 2015
Triple X Syndrome Networking Lunch & Bella Workshop - Sydney
Attendees of the Seminar are invited to join in on a networking lunch (at a small cost to you). So that the girls can meet each other, they are invited to participate in a special Bella Art Workshop run by the Museum of Contemporary Art in Circular Quay. This includes gallery exploration, a visit to the interactive Bella Room and practical art making activities. See the flyer
for more info.
8th November 2015
Triple X Syndrome Seminar - Darlinghurst NSW
- Dr. Meredith Wilson - Clinical Geneticist The Children’s Hospital at Westmead “Premature Ovarian Failure”
- Dr. Amanda Wiart – Dphil Immunogenetics The University of Oxford- “What you need to know about genetic conditions”
- Dr. Racha El-hajj - Cytogeneticist The Children’s Hospital at Westmead “Genotype/phenotype of Triple X mosaicism and current research”
- Dr. Mridula Sharma - Associate Professor Macquarie University “Auditory processing disorder”
- Amanda Miller -Primary School Teacher, St Finbar’s Primary School “Providing educational support to girls with Triple X Syndrome”
- Naomi Pugsley – “Personal Story”
- Speaker TBC - “Psychosocial and behavioural issues”
See the flyer
for more info.
14th November 2015
GSNV Peer Support Training
Peer support training is available for all individuals, including staff from support groups. It is a one day workshop and our aim is to help you feel empowered to listen and talk to others who are in a similar position, and share your wisdom and experience.
The training will include:
- active listening
- communication skills
- community resources
- information about GSNV and what we can do to help the process.
You will receive a certificate upon completion as well as an invitation to become a Peer Support contact with the Genetic Support Network of Victoria. For more info or to RSVP: email email@example.com
. Also see the flyer
. FREE for members! Info on how to be a member can be found here
27th November 2015
Christmas Breakfast for CF
Melbourne Zoo, see the flyer
for more details.
28th January 2016 - Save the date
Neuromuscular Support Group for Young Adults Seminar
Guest speaker Karni Liddell, former Paralympian. More details TBA.
In the media
NDIS in Victoria update
The Premier, Daniel Andrews has recently signed an historic bilateral agreement with the Commonwealth outlining the rollout
of the National Disability Insurance Scheme (NDIS) in Victoria over the next three years. The agreement means a more than doubling of the current funding for disability support and is expected to benefit an estimated 105,000 Victorians. Find out more here
Megan Fookes of Rave Voices Australia, nominated for Australian of the Year awards
The GSNV congratulates Megan Fookes, director of RVA, for her nomination in recognition her achievements in advocacy and her campaign work for a national rare disease policy. Read more here
Childhood diseases genetic breakthrough
A study with almost 17,000 participants has uncovered genes involved in auto-immune disorders such as type 1 diabetes, juvenile arthritis, Crohn’s disease and a severe type of lupus. The findings include common genetic mechanisms behind different conditions, opening up the possibilities for using the same drugs to treat conditions that share similar genetic components. Read more here
Senate call for audio description
The Australian Senate has supported a motion which could force television stations to introduce audio description services for people who are blind or have low vision. Australian Greens Senator Rachel Siewert, who raised the motion, said Australia had fallen behind the rest of the world, "with approximately 350,000 people in Australia who are blind or have low vision, this is simply not good enough". Read more here
Pulmonary hypertension gene discovery
Scientists in the UK have uncovered a role for the gene Slc39a12 in pulmonary hypertension. Pulmonary hypertension is a life-threatening condition characterised by the increase of blood pressure in the arteries that transport blood from the heart to the lungs, leading to the gradual blockage of vessels that carry blood to and from the lungs, and can cause difficulties in breathing, right-sided heart failure and eventually death. Read more here
Boston Children's hospital launches competition to diagnose undiagnosed children
Boston Children's Hospital has recently launched a competition to interpret genomic information and identify the molecular cause of five pediatric patients' undiagnosed disorders. Registered bioinformatics teams have been given access to patients' whole-genome and exome sequence data and will compete for $25,000 for finding the cause of the children's disease. Read more here
Peter Mac researchers' acute myeloid leukaemia (AML) discovery
Researchers at the Peter MacCallum Cancer Centre
(Melbourne) have for the first time figured out how to grow AML cells in culture, and have discovered the way these cells become resistant to chemotherapy. This new understanding will help researchers develop new interventions that will help prevent resistance to therapy and thereby prevent progression of the disease. A clinical trial for a new treatment is also underway. More info here
9th - 10th October 2015
The 9th Bi-annual Australian Wolf Hirschhorn Syndrome Support Group Conference - Queensland
For more information or to sign up to the mailing list contact firstname.lastname@example.org
22nd October 2015
3rd BTAA National Summit, Lunch and CCQ Support Forum - Queensland
National summit for brain tumour advocates. Find out more here
24th October 2015
Motor Neurone Disease Symposium - Queensland
Registrations for Queensland MND Symposium are now open! Registration is free and open to wider MND community. Featuring national and international experts, the symposium will include research updates on factors that cause and progress MND, and potential cures. More info here
14th - 15th November 2015
Australian Tuberous Sclerosis Conference
Medical and family meetings include TSC expert international and Australian speakers covering a wide range of topics. Registration is now open. You can register online
or send through a paper form. Please contact Clare Stuart (email@example.com
or 0410 685 181) if you have any difficulties registering.
19th - 21st November 2015
First ever Rett Syndrome Association Australia conference on Rett syndrome - Geelong
Conference theme: ‘The Rett Syndrome Journey: Pathways to Follow”
‘Pathways to Follow’ on the journey with Rett syndrome can include caring for the carer, acquiring equipment, living as a family, living away from home, managing health, schooling, being an adult, stimulating activities, applying and maintaining various therapies, exploring and instituting communication methods and techniques, establishing links with other families, to name just a few. Additional information about the occasion can be found in the ‘News’ component of the RSAA website
. See Flyer
25th November 2015
Autism Spectrum Disorder Research Forum
The Autism Spectrum Disorder Research Forum provides an excellent opportunity to hear about Autism Spectrum Disorder research currently being undertaken by Victorian research teams, including that being completed by undergraduate and postgraduate students. The day will provide an opportunity to share common interests in the autism research field. It will be suitable for all autism researchers, including students, clinicians and autism educators, as well as parents interested in Victorian autism research. Please note that the forum will focus on research matters, and participants should have a reasonable knowledge of Autism Spectrum Disorders and research methodology. More info here
HHT quick facts for health care professionals
The #1 piece of advice you all suggested for people newly diagnosed with HHT is to be your own advocate. Here is a printout
to help with that.
Respite Care Guide for carers of people with dementia
Download the guide here
Answer questions and the redcross will recommend you a personalised career path. Start here
The NRS app
gives National Relay Service users mobile access to a range of NRS services.
is a useful mobile app for people who are Deaf or hearing impaired, providing up-to-date and easy-to-read information about what’s going on around them.
offers an affordable, mobile and flexible face to face communication channel for Deaf and hard of hearing individuals to interact with anyone.
FSHD – Find the Cure app
This app allows donors to confidentially see which research projects their donations have been invested in – an Australian first. Find it on iTunes
and Google Play
Primary Health Care Advisory Group webcast
Consultations have been recently held on the reform agenda for primary care for people with chronic illness. See the webcast
International Lupus Month
Lupus is a chronic autoimmune disease in which the immune system produces antibodies to cells within the body leading to widespread inflammation and tissue damage. Find out more
Lupus Awareness Walk (all states - CBD)
Walk for your loved ones, family, friends, in memory of and even for yourself. Official date yet to be confirmed. To register your interest email: firstname.lastname@example.org
11th - 17th October 2015
Haemophilia Awareness Week
Haemophilia Awareness Week is an opportunity for individuals and families as well as Haemophilia Foundations and other organisations to take part in a campaign and activities to raise awareness about haemophilia, von Willebrand disorder and related inherited bleeding disorders throughout Australia. Read more here
17th - 23rd October 2015
National Week of Deaf People
Theme: With Auslan Right, Deaf Children Can! The National Week of Deaf People (NWDP) is a week long national celebration of Deaf individuals and the Deaf Australian community. More info here
18th October 2015
15th Annual BRCA Information Day
Sunday 18 October 2015, 9.00 - 3.00pm at the Royal North Shore Hospital, Pacific Highway, St Leonards, Sydney. For more information and how to register please click here
20th October 2015
Traralgon Peer Support Group Leader Forum
Organised by Health Issues Centre together with Multiple Sclerosis Australia and Epilepsy Foundation.
Why should I attend?
Who is this for?
- Hear from several peer leaders who are doing some fantastic work together with their peer support group.
- Enhance your skills so you can continue to provide quality and sustainable peer support in our communities.
- Meet and network with fellow regional peer support group leaders.
- Volunteer chronic disease peer support group leaders and members from regional Victoria.
- Community members or health service staff interested in starting a new peer support group.
See Forum Program
to find out who is speaking on the day and workshop options. For more information or to register by phone please call Esther Lim at (03) 9664 9323 or email email@example.com
25th - 31st October 2015
International Brain Tumour Awareness Week
Organise an activity to raise awareness about brain tumours. Find out more
25th October 2015 - Bendigo
8th November 2015 - Melbourne
More info here
Lupus Clinical Trial: Belimumab (Benlysta®) Pregnancy Research Study
Participating in a clinical research study contributes to medical knowledge related to the treatment, diagnosis and prevention of diseases or conditions. The results of these studies can make a difference in the care of future patients by providing information about the benefits and risks of therapeutic, preventative or diagnostic products or interventions.
Research is the key to improving the lives of those living with lupus. Now there is a study called the Belimumab (Benlysta®) Pregnancy Registry, which is an observational study that will further evaluate the safety and effectiveness of belimumab (Benlysta®) in women who have been given (exposed to) belimumab (Benlysta®) within the 4 months prior to and/or during pregnancy. The goal of the registry is to evaluate the health of these women until they give birth, and to study the health of their babies until they are 12 months old. Participants will not have to make any extra office visits, take any extra medical tests or medications by taking part in this pregnancy registry. For more information, click here
Survey: Adult sexual behaviour
This survey is open to all adults aged over 18 years. However, the researcher is particularly interested to include adults who identify as intersexual and are on medical lists for hormone replacement therapy (HRT). Find the survey here
and the participant information sheet here
Healthy Living after Cancer (HLaC) - a telephone-delivered healthy lifestyle coaching program for cancer survivors evaluation study
The aim of the Healthy Living after Cancer program (HLaC) is to evaluate the integration of a telephone-delivered lifestyle intervention for cancer survivors into the existing Cancer Council 13 11 20 information and support telephone service offered by Cancer Councils New South Wales, Victoria, South Australia and Western Australia. Pre- and post-program evaluation will be conducted, with a focus on program implementation (i.e., number of referrals and number of program completions) as well as assessment of patient-reported outcomes (i.e., physical activity, diet, weight, and quality of life). More info here
Are you between 18-75 years of age, have diagnosed epilepsy and experience two or more seizures per month? If you answered yes, the RMH invites you to participate in a dietary therapy trial which will investigate if the high fat, low carb modified Atkin’s diet can help to reduce epileptic seizures in adults. More information about the Modified Atkins Diet for Epilepsy (MADE) trial can be found on our website
The Bereaved PICU Parent Study
This research study aims to explore the experiences of parents during and after the time their child passed away in a Paediatric Intensive Care (PICU) setting, and their interactions with health care providers during this time. The researchers are seeking parents whose child passed away in any Australian PICU within the last 6 months to 2 years.
What is involved?
A meeting (interview) with the researcher to talk about your experiences, feelings, needs and perceptions of the time your child died in the PICU.
Want to know more?
Ashleigh Butler (Interviewer, PhD Candidate): 0497 270 526 firstname.lastname@example.org
Dr. Beverley Copnell (Primary Investigator): 03 9905 4836
The GSNV works hard to connect individuals and families interested in sharing their experiences and insights with others. People interested in contacting others “in the same boat” can contact the GSNV to provide details and we will assist in making connections.
- Constitutional Mismatch Repair Deficiency (CMMRD)
- Ehlers-Danlos syndrome coexisting with Lynch syndrome
- Hajdu Cheney syndrome
- Megalencephaly Capillary Malformation (MCAP) syndrome
- Milroy disease
- Moebius Syndrome
- Pantothenate Kinase-associated Neurodegeneration
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
- 4q34 deletion
- Xp11.3-11.4 deletion
If you would like to make contact with others in the same boat and share your experiences with the above conditions, please either contact the GSNV office by emailing email@example.com
or phoning (03) 8341 6315.
For a listing of support groups in Victoria see the links page on the GSNV website: www.gsnv.org.au
to see the GSNV calendar of events.