- From the team
- Support group news
- In the media
- Conferences and seminars
- Seeking contact
- GSNV Calendar
From the team
Dear GSNV community,
Welcome to the latest edition of the GSNV E-News Bits and Pieces.
I am pleased to be back in Australia after my overseas stint and once again connecting with the GSNV family and community. It’s been an eventful transition back, but in all its wonderful to be home and adjusting into my regular life and work.
Over the past few weeks I have been asked many times what I miss the most about life in Italy. Impossible to answer; I miss everything and all! However, if I really think about what I yearn for and what I can’t seem to get here (although close), it’s that perfect cup of coffee. Although we have come a long way in Melbourne (many cafés now offer authenticity by way of baristas who only speak Italian) and our café latte is now served with lashings of Italian prowess, I still can’s seem to get the same buzz. Albeit, I’m addicted to the brew and my day is all so much better with coffee in it.
However, is my need for one or more cups of coffee a day simply a force of habit, or is it in actual fact partly genetic? Researchers at Edinburgh University have looked into this very idea and have explored the ‘one or more’ cup phenomena with greater understanding. This research extends further in assisting an understanding of why people respond differently to certain drugs, but for me, its evidence that the ’humble cuppa’ has the potential to unlock important information that goes beyond habit and lifestyle. Brava! For more on this story click here
Please scroll down the bulletin, as once again this edition is full of important events and support group initiatives; all contributing toward the empowerment of the genetics community. A number of family education sessions and conferences are worth noting in the diary and passing on to your own networks. Please disseminate freely. I note in particular the Genetic Alliance Australia, Genetic Disorders Awareness Week
Launch in NSW, which is once again promising to be an important national event. Here in Victoria the GSNV is pleased to support the Usher Kids Australia, Usher Syndrome Awareness Day
. This is an important event communicating important developments in therapy and support of Usher Kids, and the potential of motivated and inspired individuals. We hope to see you on the day.
There are a number of important developments in genomics in Victoria and the GSNV remains closely connected, involved and engaged in order that we represent the voice of our members and community. The Department of Health and Human Services is currently calling for community feedback into its Genomic Healthcare for Victoria, Discussion Paper. The GSNV encourages individuals and groups to read the Discussion Paper, and provide their input and response to the priority areas and actions explored.
The Discussion Paper invites community input and discussion in order that a new statewide genetics/genomics framework and subsequent service-planning model reflects all important community opinions and views.
A response template has been developed in order to guide stakeholders in providing comment. Click here
to access the template
Louisa Di Pietro
Support group news
5th, 6th, 7th, 8th September 2016
FSHD Global Annual Science Meetings
Be part of a global conversation about FSHD research!
The Foundation is gathering world class international scientists and clinicians to meet with the FSHD community in Australia. This is your invitation to hear what research is currently happening, to share your stories about living with FSHD, to make connections with clinicians and support networks.
One of the most important aspects of research is telling people about it. The researchers the Foundation fund lead the world in FSHD basics, therapeutic and diagnostic investigation. The Annual Science Week is your chance to hear what they have achieved with FSHD Global funding, and what this means for progress into treatments and an ultimate cure.
Sydney - Monday 5th September 2016
6.00pm - 9.00pm
384 Victoria St (enter via Burton St) Darlinghurst NSW
- Tuesday 6th September 2016
Novotel on Collins St - Room1
6.00pm - 9.00pm
270 Collins St
Brisbane - Wednesday 7th September 2016
6.00pm - 9.00pm
200 Creeki St
Brisbane City QLD
Perth - Thursday 8th September 2016
5.30pm - 8.30pm
Harry Perkins Institute
Seminar Room G24
6 Verdun St
More info here
Please RSVP to email@example.com
by Thursday 1st September
21st September 2016
Muscular Dystrophy Australia AFL Finals BBQ Lunch
RSVP by the 14th of September
Time: 11am – 3pm
Venue: Muscular Dystrophy Association, 111 Boundary Road North Melbourne VIC 3051
For more info call 03 9320 9555
28th September - 2nd October 2016
8th October 2016
MDDA Family Retreat and Teens Camp (NSW) - save the date
The next MDDA
Family retreat and Teens camp will be held in Narrabeen, Sydney as follows:
Wednesday 28th September – Sunday 2nd October, 2016 (Open to all PKU/IEM teens from ages 10-17 yrs). Siblings welcome to join from Friday 30th September – Sunday 2nd October.
Friday 30th September – Sunday 2nd October, 2016 (Open to all IEM parents, adults, kids and siblings)
Further details here
will follow shortly, but in the meantime save the date and start planning your trip.
Klinefelter's Information Day - Melbourne
Save the date! More info to follow in the next issue of Bits & Pieces.
9th October 2016
Angelman Syndrome Association Australia Family Fun Day - Melbourne
Venue: Port Phillip Specialist School, Port Melbourne, cnr Pool and Nott Streets. Read more here
In the media
Google and Stanford Launching Clinical Genomics Service
A new collaboration between Stanford Medicine
and Google will allow clinicians using genomic sequencing to help diagnose disease, to harness the power of Google Genomics
. This service applies the same technologies that power Google Search and Maps to securely store, process, explore and share anonymous genomic data sets. This initiative is set to transform patient care and medical research with its potential to expand genomics research and establish new methods of real-time data analysis. Read more here
ALS Research Advanced by the Ice Bucket Challenge
The ice bucket challenge, the charity campaign that went viral in 2014 and left scores of notable persons
shivering and drenched, has paid off in the most spectacular way. Now, scientists funded with the proceeds have discovered a gene, NEK1
, that is associated with the condition Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig’s disease. This new finding has helped scientists better understand motor neurone disease; the NEK1 gene normally works to help repair DNA damage and maintain various cellular structures. People with a faulty copy of the NEK1 gene could therefore accumulate DNA and cellular damage in their bodies. Read more here
or view the story here
Exome Sequencing Helps Uncover New Congenital Heart Defect Disorders
A recent study
published in the journal Nature
has identified several new gene mutations linked to three new rare syndromic congenital heart disease (CHD) disorders. The scientists did this by sequencing the exomes (gene coding regions) of 1,900 CHD patients and their parents. Interestingly, the team also found that in some CHD patients, the damaging gene variants were inherited from their seemingly healthy parents (implying that environmental factors or other genetic factors are also at play in some CHD disorders). Read more here
New Treatment for Pancreatic Cancer
Australian scientists have developed a new “gene silencing” nanomedicine drug to successfully treat pancreatic cancer in research studies using a mouse model. This new treatment can get past scar tissue, which can make up to 90 per cent of a tumour, normally acting to block chemotherapy drugs from reaching the tumour. This technology has potential to be personalised, and used to target the unique genetic profile of a patient’s particular tumour. Read more here
1st September 2016
Melbourne Genomics Demonstrating Success Symposium
The symposium will highlight:
Lessons learnt from the clinical 'Flagships'
Spanning adult and paediatric medicine, cancer and germline conditions, the Flagships illustrated:
- when and how genomic sequencing is useful for patient care
- considerations for current and future service delivery
Impact of shared approaches
1st - 2nd September 2016
- for analysis and management of genomic information
- to consent and ethical issues
Strengthening Disability Advocacy Conference - Melbourne
The theme of this year's conference is Putting rights center stage. This conference is for anyone who is interested in strengthening and upholding the rights of people with disability. More info here
7th - 9th September 2016
National Paediatric Bioethics Conference - Melbourne
The National Paediatric Bioethics Conference brings together paediatric and adolescent health practitioners of all disciplines, ethicists, policy makers and community sector practitioners. Attend the conference to hear robust dialogue and different perspectives on ethical issues facing the paediatric healthcare sector. More info here
7th - 10th September 2016
Early Childhood Intervention Australia 12th Biennial National Conference - Melbourne
ECIA is the peak national organisation promoting the interests of young children with developmental delays and disabilities and their families. Come along to discuss and debate new approaches and new solutions to guide Australia’s future approach to newly roll out of the NDIS Scheme. More info here
11th - 12th September 2016
National MND Conference - Melbourne
MND Australia is pleased to announce the 8th National Motor Neurone Disease (MND) Conference.
Theme: Care, Collaboration, Communication. More details here
15th - 16th September 2016
Fourth International Conference on Oesophageal Atresia - Sydney
Oesophageal Atresia (OA) is a rare congenital malformation which affects the gastrointestinal and respiratory systems primarily. OA patients have respiratory, nutritional and gastroenterological issues not only in the first years of life but also in adolescence and adulthood. The Conference program aims to lead to an improved understanding of Oesophageal Atresia, inspire development of innovative therapies, enhance local and international collaborations and help establish well defined evidence based standards of care for Oesophageal Atresia. Visit the conference website
to have a look at the scientific program which has world renowned international and national speakers.
16th September 2016
Innovations in Cancer Treatment and Care Conference - Sydney
This free conference provides health professionals across NSW with an opportunity to hear, collaborate and share the latest innovations in quality cancer treatment and care. Find out more here
18th -19th September 2016
International Conference on Medicine, Public Health and Biological Sciences - Tehran-Iran
The aim objective of 2016 International Conference on Medicine, Public Health and Biological Sciences is to provide a platform for researchers, academic staffs, academicians as well as industrial professionals from all over the world to present their research results and development activities in Medicine, Public Health and Biological Sciences. Read more here
22nd - 24th September 2016
COGEN Congress - Spain
The 2nd World Congress on Controversies in Preconception, Preimplantation and Prenatal Genetic Diagnosis (COGEN), will be held in Barcelona, Spain.
The Congress includes:
- The use of Next Generation Sequencing for expanded preconception carrier screening
- Technology options for clinics with a review of strategies for evaluation of chromosome copy number in human embryos and oocytes
- Advances in Preimplantation Genetic Diagnosis (PGD) and the latest data on Preimplantation Genetic Screening (PGS)
- Non-invasive Prenatal Testing (NIPT) and Non-invasive Prenatal Diagnosis (NIPD)
- From Chromosomal Microarrays (CMA) to Whole Exome Sequencing (WES) in the evaluation of the malformed fetus
- Controversies in this burgeoning area of clinical practice.
For more information click here
23rd - 24th September 2016
First Asia-Pacific Bone Disorder Symposium - Melbourne
This meeting will showcase the latest research in inherited bone disorders including new therapies, new management and new stem cell approaches to understanding these conditions. It is designed to attract a diverse group of researchers, clinicians, surgeons, and allied health workers. For more information please click here
25th September - 1st October 2016
SSPA National Convention - Cowes, VIC
Philip Island Adventure Resort, 1775–1801 Philip Island Road, Cowes, Victoria, 3922. Register by filling out this form
The will also be a Medical Day on Monday 26th September, as part of the convention, but this can be attended separately. See page 4 of the SSPA newsletter
for more details.
30th September - 2nd October 2016
12th Biennial Australasian CHARGE Syndrome Conference - Gold Coast
For individuals with CHARGE, families, extended family members, medical professionals. More details here
7th - 8th October 2016
11th National Angelman Syndrome Association Australia Conference - Melbourne
Theme: "Finding Our Voice" The program is aimed at professionals including medical practitioners, therapists, educators, students in these fields and disability support workers, and is of interest to Angelman syndrome families. Presentations include topics such as current research in Australia, the Angelman Registry, literacy, Alternative and Augmentative Communication (AAC), supporting students with complex communication needs and Video Self Modelling. Read more here
16th - 17th November 2016
10th National Deafblind Conference - Fremantle
The theme of the conference is "Celebrating Experiences Across the Lifespan" and it is hoped that the conference will provide delegates with an opportunity to connect with people who are deafblind, family members, educators, allied health professional, medical and nursing staff, and researchers. The program will cater for a range of interests, from early childhood and congenital deafblindness to elderly people with acquired combined vision and hearing loss. Advocacy, research and best practice will also feature in the program. For more information, click here
26th - 28th November 2016
AussieMit 2016 - Sydney
is the fifth biennial meeting of researchers in Australia that brings together scientists and clinicians studying biochemistry, molecular biology, plant sciences, and cell and developmental biology with mitochondria as the focal point. The diverse backgrounds of the delegates contribute to lively and stimulating meetings. The aim of this meeting is to update researchers of new data, to outline relevant techniques, and to foster new collaborative and career opportunities.
The Kolling Institute, St Leonards
Keep up to date with AussieMit 2016 by liking the AussieMit Facebook page
6th - 7th May 2017
Connections 2017 - Melbourne
Save the date for the Disorders of the Corpus conference organised by AusDoCC.
The Keune Foundation
The Keune Foundation provides financial assistance to families that have a child that has been diagnosed with a life threatening illness. To be eligible for assistance you need to be an Australia citizen or permanent resident and the child has to be under 18. For more info see the Keune Brochure
, Application Form
The Stepping Into program
A paid internship program designed specifically for university students with disability, aimed at levelling the playing field. Find out more here
17th - 20th September 2016
Challenge supporting kids with cancer urban camp - Melbourne
Applications for 8 - 12 year old members are now open for the four day extravaganza, starting on Saturday September 17 through to Tuesday September 20. This camp is jam packed with fun inner city activities including a visit to the Melbourne Zoo, Royal Melbourne Show, movies, bowling and lots more. To apply, call Challenge on (03) 9329 8474 or firstname.lastname@example.org
28th September, 26th October 2016
NDIS information sessions for carers, people with intellectual disability and children
The roll out of the National Disability Insurance Scheme (NDIS) is one of the biggest reforms in the disability sector. To assist in preparedness for the NDIS roll out in Maribyrnong in July 2018, Council is running NDIS Information sessions for:
Carer Information Session – Presented by Carers Vic
People with Intellectual Disability Information Session – Presented by VALID
Children Information Session – Presented by the Association for Children with a Disability
Maribyrnong City Council
Wed 28th Sep, 2016: Intellectual disability - 10:30am-12:30pm, Footscray
Wed 26th Oct, 2016: Children - 10:30am-12:30pm, Footscray
Cost: free but booking is essential
Contact: Liz Wright
Phone: 9688 0313
Control participant need for autism study
The Collaborative Autism Study are currently looking for one male adult (aged 36-46) without a family history of Autism who would be interested to participate as a 'control' in a behavioural and neuroimaging (MRI) study for Autism research. Data from control participants will be compared to same-aged family members of individuals with Autism.
Selection criteria include:
- No family history of Autism (i.e., no relative diagnosed with Autism)
- No diagnosis of a psychiatric/neurological condition (and not on medication for mental health)
- Responses on a questionnaire, which I will send out and revise ahead of time
- Responses on a medical screen, to ensure they are suitable to have an MRI
Testing will take place at the Melbourne Brain Centre (Austin Health, Heidelberg) over a 4-5 hour session, during which participants will do tasks related to verbal interaction, thinking skills, emotions and have the MRI scan. The study is only open during working hours on weekdays, as the MRI scanner is not available at other times--therefore, it will ideally suit those who work part-time or on a casual basis.
Healthy male children needed
Do you have, or do you know, a male child aged 9-10 or 14-15? MCRI are looking for some help with a study on the causes of speech disorders, and need some healthy participants with normal speech, language and literacy skills, who’ve never had a speech disorder, hearing impairment, central nervous system disorder, or anything that may affect speech. They'd need you and your child to allow us access to his/her medical history information, perform speech assessments, and have a 1 hour MRI brain scan at the Melbourne Brain Centre in Heidelberg. If you think you can help, or for more information, please email Olivia at email@example.com
The Compass Trial
Compass is currently recruiting Victorian or South Australian female residents born on or after 1 July 1980 AND aged at least 25, attending for routine cervical screening at participating practices
across the state of Victoria. For more information on whether or not you are eligible to participate please click here
Your experiences of parenting a child with a rare disease
Parents who have a child aged 6 to 18 with a rare disease are invited to take part in this research project which involves completing an online questionnaire that will take approximately 30 minutes. Participants are eligible to enter a draw to win one of four $100 COLES SUPERMARKET GIFT VOUCHERS! To participate or learn more, click here
Fontan Registry are currently recruiting individuals aged 13 years+ with a Fontan circulation to take part in a Melbourne-based study over several days on the impact of blood thinning medication and fenestration on bone density, heart and brain function, and exercise capacity. Travel support available to Melbourne from other Australian States. Learn more here
Do you have a child with a developmental disability?
Researchers at the University of Newcastle would like to invite you to complete a survey exploring your experience of being a parent of a child with a developmental disability. In particular, we are interested in how cultural factors may or may not affect your experience. We are also particularly interested in the positive and the negative experiences that you may have had and how this has affected you in your day-to-day life. If you are interested in participating, click here
. It will take you to our website where you can read more about the study before deciding if you would like to complete it or not. On the webpage you can also find a link to the survey.
Consultation: People with a disability affected by breast cancer, their families and supporters
Breast Cancer Network Australia
(BCNA) wants to ensure that we provide accessible and appropriate breast cancer information and support to people with a disability and their families and supporters. To better understand the information and support needs of people with a disability affected by breast cancer, their families and supporters, BCNA wants to talk with people with a broad range of experiences of disability.
To find out more, contact Grace Daley:
T: 1800 500 258
If you are deaf, or have a hearing or speech impairment, contact Grace through the National Relay Service www.relayservice.gov.au
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.
- 4q34 deletion
- Autosomal Dominant Osteopetrosis
- Beckwith-Wiedemann syndrome
- Constitutional Mismatch Repair Deficiency (CMMRD)
- Disorders of the corpus callosum
- Ehlers-Danlos syndrome coexisting with Lynch syndrome
- GGCX gene mutation
- Hajdu Cheney syndrome
- Hay-Wells syndrome/ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.
- Hereditary Spysiotosis with Iga Nephrophy
- Megalencephaly Capillary Malformation (MCAP) syndrome
- Milroy disease
- Moebius Syndrome
- Pantothenate Kinase-associated Neurodegeneration
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
- Wolfran syndrome
- 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 firstname.lastname@example.org
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.