Thank you to our friends at Open Forum and Global Access Partners (GAP). Open Forum is an independent collaborative think-tank built around an interactive discussion website. It provides a platform for focused dialogue on social, political, economic, ecological and cultural issues and challenges.
Over May, the wonderful Louise Charter will be sharing Faces 4 Hope, giving you an opportunity to meet some very special people and get to know why research is so important to their families and their future. The first Face 4 Hope is the beautiful Ava.
You can find more Faces 4 Hope at Lou's Mission 4 PWS as well as follow her training sessions as she competes in running events to raise awareness and funds for research into Prader-Willi syndrome.
A huge thank you to Ava, Bec, Louise and their families for making this post possible.
What is your expertise and experience?
I'm a Professorial Fellow at the Florey Institute of Neuroscience and Mental Health, and the University of Melbourne, and hold an NHMRC Senior Research Fellowship. I run the Neural Plasticity lab, where we focus on understanding how genes and the environment work together to contribute to brain function. We know that every person is born with our own "genetic deck of cards", but we also know that environmental factors can combine with these genetic factors in complex ways. My research group studies how genes and environment ('nature and nuture') combine using models of specific neurological and psychiatric disorders, investigating at the behavioural, cellular and molecular levels. Our goal is to understand the disease mechanisms and identify novel therapeutic targets for the development of new treatments.
Why are you involved in the Prader-Willi Research Foundation of Australia?
I was invited to join the inaugural scientific advisory panel of the Prader-Willi Research Foundation of Australia as a Florey Institute neuroscientist with over 25 years research experience, including neurodevelopmental disorders such as schizophrenia, Williams syndrome, Rett syndrome and autism spectrum disorders (ASD). It has been my pleasure to serve the Foundation, as I realise the great burden that Prader-Willi syndrome, and related disorders, place on the people affected and families. The passion and courage of families living with Prader-Willi syndrome is an inspiration and great motivation for me as a medical researcher.
LaTrobe University want to find out if young people with Prader-Willi syndrome get stronger by lifting weights in the gym.
What is involved?
Your adolescent or young adult would be allocated at random to either an exercise group, or be asked to continue their regular daily activities (control group).
The exercise group participants will be teamed up with a physiotherapist. The physiotherapist will help your adolescent or young adult to exercise at a local gym, twice a week for 10 weeks, for approximately 45 - 60 minutes. The days and times of training will be decided in consultation with you.
The control group will be asked to continue their regular daily activities for 10 weeks, while the exercise program is running. Once this has finished, they will have the opportunity to take part in the 10-week exercise program with a physiotherapist, at a local gym.
We will measure how strong your adolescent or young adult is before they start the program, and after it finishes.
How much will it cost?
We will cover the cost of the gym visits and will contribute a small amount towards the cost of your travel associated with the project.
Who will be taking part?
Young people with Prader-Willi syndrome aged 13 - 39 years.
Who is organising this study?
Prof Kim Shields and Prof Nick Taylor are research physiotherapists at LaTrobe University, and Prof Kim Bennell is a research physiotherapist at Melbourne University.
If you are interested in taking part of you have any questions regarding the study, please contact Prof Nora Shields 03 9479 5852 or N.Shields@latrobe.edu.au
Join us in spreading the word about Prader-Willi syndrome on rare disease day. The image below can be downloaded for sharing on social media - or just link to our website. Together we can make a difference to the lives of people living with Prader-Willi syndrome.
We're running an online auction to raise funds for vital research into Prader-Willi syndrome. For 24 hours only, you can bid on fantastic items at https://www.allbids.com.au/ALLBIDS/Categories/1250/praderwilli-research-foundation-australia
Items available include:
- An MCG Corporate Suites on 17th April for the Collingwood v Melbourne game, including food and beverage for 16 people
- Nic Naitanui signed West Coast Eagles AFL Guernsey
- Bachar Houli signed Richmond AFL Guernsey
- George Gregan signed Wallabies shirt
- Netball signed by the 2015 Australian Diamonds Squad, world cup winning team
- 7 nights accommodation in tropical North Queensland at a beautiful four bedroom holiday home in Clifton Beach (adjacent to Palm Cove)
- 2 nights accomodation in Bright at beautiful Mystic Valley Holiday units - the alpine outdoors awaits you.
- Framed photograph of Victoria's alpine region by celebrated photographer Brendan Holland
- Shopkins Fashion Spree Ballet Collection, Little live talking bird "Poppin Polly" and "Lil Mouse"
- Shopkins Food Fair, Cupcake Collection
An enormous thank you to our wonderful supporters who donated goods - Australia Post, StarTrack, M Holland, Esperance Sportspower, Ross and Brendan Holland, Moose Toys.
Update: Our first online auction to raise funds for Prader-Willi syndrome research is over. We spread awareness about Prader-Willi syndrome, raised almost $5000 of much needed funds and most importantly can fund research to make a difference in the lives of people living with Prader-Willi syndrome. Thank you to everyone for your support.
Supermarket meltdowns? Mealtime tantrums? Bedtime battles? When you're the parent or a caregiver of a child with a disability, sometimes life can be extra challenging. Stepping Stones Triple P gives you tips and strategies to manage the big and small problems of family life. It helps encourage behaviours you like, cope with stress and teach your child new skills.
Stepping Stones Triple P Project is currently offering parents in Queensland, Victoria and New South Wales free parenting support. The project was developed and is run by The University of Sydney, Monash University and the University of Queensland, with the support of the NHMRC.
Information kindly provided by Dr Kylie Grey, from Monash University
We're very pleased to announce that we now have a newsletter which provides more detailed information about our activities, the latest Australian research into Prader-Willi syndrome and upcoming events. You can sign up by completing your email address below:
Do you have a child (up to 13 years old) with an intellectual disability? Are you feeling overwhelmed and under stress?
Northern Intellectual Disability Health and the University of Technology Sydney are inviting parents with a child with an intellectual disability, who are experiencing stress to attend one of their two different 8-week support groups. Come along to:
- Examine ways of overcoming stress
- Develop skills and implement strategies to reduce stress and its impact on the family
- Improve the wellbeing of yourself and your family
The groups will be run at Northern Intellectual Disability Health in Cremorne by provisionally registered psychologists under supervision. There is no cost for attending this group. Groups will be evaluated by questionnaires completed by participants online weekly, and at the beginning and end of the study.
If you would like further information, or to be involved in this research study, please contact us at MHITpysch@gmail.com
This study has been approved by the Northern Sydney Health District Human Research Ethics Committee, Reference LNR/15/HAWKE/263, ratified by the UTS HREC, Reference: 2015000670.
How do the scientific conference and workshop fit into IPWSO2016?
The 9th IPWSO Conference: Building Global Community encompasses several conferences, including the Parents Conference, the Professional Provider and Caregivers Conference, the Pre-Conference Workshop on July 20 and the Scientific Conference (Wednesday July 20 evening reception, Thursday July 21 and Friday July 22).
Who is the contact for information about the scientific program and workshops?
Members of the Scientific Conference Organising Committee are Dr Rachel Wevrick (Univ. of Alberta), Dr Theresa Strong (Univ. of Alabama at Birmingham, Scientific Director of the Foundation for Prader-Willi Research, and member of the Prader-Willi Research Foundation's Scientific Advisory) and Professor Tony Holland, Univ. of Cambridge, Chair of the Clinical, Scientific & Medical Advisory Board for the International Prader-Willi Syndrome Organisation). For general conference information and registration, please contact email@example.com. For the scientific conference and workshop, please contact IPWSOScientific@gmail.com.
How can I register for the scientific conference and workshop?
Both the Scientific Conference and Workshop are open to anyone who would like to attend. Registration information will be posted on the 2016 IPWSO conference website.
How can I present my work at the IPWSO 2016 Scientific Conference?
The Call for Abstracts (PDF link) has information about opportunities to present a poster on July 21 or a talk in one of the sessions on July 21-22. The deadline for abstract submission is Feb 1, 2016.
Information kindly provided by organisers of 2016 IPWSO. You can learn more about the conference at their website.
If you are the parent of a child with Prader-Willi, Angelman or Chromosome 15 duplication (Dup15q) syndromes, or yourself have been tested and have been diagnosed with one of these disorders, the Free FX research team would like to invite you and your family members to participate in their study.
What is the research project about?
Prader-Willi, Angelman and Dup15q syndromes are distinct neurodevelopmental disorders caused by alterations in genes located in a specific region of the long arm of chromosome 15 (called 15q). This region contains genes, like SNRPN and UBE3A and others, which are very important for brain development. Unlike most other genes in the body, these genes behave differently depending on whether they are inherited from the mother (maternal) or from the father (paternal); this is a biological mechanism called 'genomic imprinting'.
Sometimes a child is born with differences in her/his chromosome 15 and/or in the genes located in the 15q region.
- When there is paternal information missing from chromosome 15q, this causes Prader-Willi syndrome
- When there is maternal information missing from chromosome 15q, this causes Angelman syndrome
- When there is extra maternal information present from chromosome 15q, this causes Dup15q syndrome.
Overall, missing or extra genetic material at chromosome 15q is associated with the medical problems, intellectual disability, behavioural difficulties and autism, and these features are seen in individuals with Prader-Willi, Angelman and Dup15q syndromes which can all be considered imprinting disorders. In this study we will test a number of new highly accurate laboratory methods, which can tell us about a person's level of activity of the gene SNRPN, which is one of the genes on chromosome 15q. We want to find out how early after birth these tests can be used to predict intellectual disabilities, behavioural problems and autism in children and adults who have alterations of the SNRPN gene. We hope that this research will lead to earlier diagnosis and a better understanding of the needs of families with chromosome 15 disorders. This may lead to improvements in quality of life through earlier access to intervention programs aimed to unlock children's full potential in life.
What does taking part in the research project involve?
To take part in this study in Victoria, participants need to be under the age of 45. To take part in this study in New South Wales and Tasmania, participants need to be under the age of 20. Taking part in Victoria involves one visit at the Murdoch Children Research Institute (MCRI, based at the Royal Children's Hospital). Taking part in New South Wales involves one Visit at Hunter Genetics. Taking part in Tasmania involves one study visit at the clinics attached to the Royal Hobart Hospital.
During this visit we will take blood or saliva sample for some genetic testing and conduct an assessment of your and/or your child's behaviour, thinking and memory skills, which will involve for example being asked to solve puzzles and remember lists of words. The assessment will take approximately 3 hours. We will reimburse you a reasonable amount for your visit travel costs to the site of the appointment in order to participate in this project. Alternatively, we can organise a research assistant to come to your home to do the assessment. For the participants assessed in New South Wales and Tasmania, or for participants assessed at home, the study genetic counsellor may organise a separate time most convenient to the participants for blood or saliva samples to be collected.
What are the possible benefits of this research?
This research will help us to have a better understanding of the problems that are caused by specific alterations to the long arm of chromosome 15, and may help to develop better treatments and early intervention programs in the future. Depending on the outcomes of the assessments the team does for you and/or your child, they may be able to discuss any potential referral for specific intervention programs in the future. If you chose, the team can also provide you with the results of your genetic and psychological testing.
If you would like more information about the project or to speak to a member of the research team, please contact:
- Victoria and Tasmania: Ms Chriselle Hickerton, Research Genetic Counsellor, ph: 03 9936 6729 or 03 8341 6209, email: firstname.lastname@example.org
- New South Wales: Carolyn Rogers, Research Genetic Counsellor, ph: 02 4985 3100, email: email@example.com
Question from our community:
When my child was diagnosed more than 20 years ago we had genetic counseling with a gentleman who suggested that in 20 years we would have gained enough knowledge to manage all Prader-Willi symptoms. How far off are we?
Response from Dr Theresa Strong:
I've been in science long enough to know that predicting when effective treatments will be available is generally not a good idea. Some scientific problems that seem easy to address turn out to be much more difficult than anticipated, while new scientific breakthroughs can make the impossible suddenly possible. One thing that has become apparent about Prader-Willi syndrome over the last 20 years is that it is extremely complicated - the genetics are unusual with imprinted genes and "noncoding RNAs" in play, the systems that control appetite have proved far more complex than first thought, and the mental health issues associated with Prader-Willi syndrome are similarly complicated. So despite important advances in the field, the dream of successfully managing all Prader-Willi symptoms has not yet been realised.
That said, there are many reasons to be hopeful. There are a variety of new drugs currently in development for control of appetite in PWS (see http:www.mdip.com/2079-9721/3/2/78) and most of this progress has occurred in the last three years. There have also been recent advances in technologies to manipulate DNA which have led to the possibility of gene-based strategies to treat Prader-Willi syndrome at the molecular level. Conventional drugs and devices are being developed and tested to alleviate some of the more troubling aspects of Prader-Willi syndrome including hypotonia, hyperphagia, and behavioral problems (see a working list of therapeutics in development here http://www.fpwr.org/therapeutics-in-development-for-pws/ ). While none of these approaches can be guaranteed to change the lives of those with Prader-Willi syndrome, the sheer number of potential new therapies and intensity of investigation is exciting and promising. We still have a way to go before it will become a manageable disorder, but research has brought us a wealth of new opportunities and hope for the days ahead.
The Prader-Willi Research Foundation of Australia funds research that will help improve the clinical outcomes and treatments available to people living with Prader-Willi syndrome. You can help make a difference by donating or spreading the word.
My interest in Prader-Willi syndrome is both personal and profession, and I am thrilled to be able to contribute to the important work of the Prader-Willi Research Foundation of Australia (PWRFA).
I have always been fascinated by science, and genetics in particular, and so I pursued a PhD in Genetics from the University of Alabama at Birmingham (UAB). I was fortunate to receive my postdoctoral training in the laboratory of Dr Francis Collins, a world-renowned geneticist who led the Human Genome Project and is currently the Director of the US National Institutes of Health. During my postdoctoral fellowship, I worked on the molecular genetics of cystic fibrosis and Huntington disease, before securing a faculty position back at UAB. At UAB, I've worked for the last 20 years on the development of gene therapy strategies for the treatment of cancer, working across the translation spectrum from discovery to human clinical trials.
But, it was during the last year of my postdoctoral training that my world got turned upside down - Prader-Willi Syndrome suddenly went from being an interesting page in my genetics textbook to being an overwhelming reality with the birth of my twin boys, one of whom was diagnosed with PWS. Along with a small group of like-minded parents, I helped establish the Foundation for Prader-Willi Research www.fpwr.org in 2003, with the mission to eliminate the challenges of PWS through the advancement of research. I have had the privilege of helping to advance Prader-Willi research around the globe for more than a decade. It has been exciting to see the progress to date as well as the new opportunities for our loved ones that are on the horizon.
Why are you involved in PWRFA?
I was very excited to learn of the founding of the PWRFA, and pleased to be invited to join the Scientific Advisory Board. There are many exciting opportunities and outstanding researchers in Australia, who have the experience and drive to push Prader-Willi syndrome research ahead through breakthrough therapies. PWRFA will accelerate that work by identifying new opportunities and bringing together a critical mass of scientists with the right expertise to spark new collaborations and investigations. The PWRFA will also provide a strong platform upon which the priorities of the patients and families can be incorporated into the research agenda. I'm excited to represent the US research efforts, with the goal of ensuring that the PWS research community is leveraging each others' strengths to advance global PWS research as efficiently as possible. I look forward to working with my Australian colleagues to achieve the mission of the PWRFA.
Our 18 year old daughter Rachael has Prader-Willi Syndrome, diagnosed at 2 weeks of age. The last 18 years has been quite a journey for her and the whole family with many challenges countered by times of laughter and feeling very proud of her determination and remarkable achievements.
Rachael has attended a very supportive mainstream school and has just finished her Year 12 studies including a modified curriculum to meet her needs and capabilities. With great determination she achieved high levels in her studies including successfully completing an online Certificate II from Tafe in Cultural & Information Services as her Year 12 focus. She also achieved great success in mainstream maths subjects up to and including her Year 11 exams and is very talented at word and number puzzles. She has an IQ of 87 (low average) and has always amazed those around her with her achievements, despite her disability, if given the right support.
The future feels daunting now that Rachael has finished school. While she has many skills, her independence is significantly limited by her disability, in particular the risks associated with food. She is currently doing work experience at a dog grooming business, which works well with her love of animals, as well as looking at working part time in a supported industry. She is a very sociable young lady who likes to meet and get to know people despite having more limited opportunities than girls her age.
Rachael has a noticeable and expected obsession with food but, despite this, she is remarkably controlled. We have not had to go to extreme measures to lock food away from home although we avoid having food in constant sight and have always had very strict rules and routines around meals and eating times. Keeping that structure in place at home and school seems to relieve her anxiety and helps her to manage her diet. To counter Rachael's preference for sedentary activities, we encourage her to join in an active family lifestyle, encouraging lots of fun exercise. Using growth hormone from an early age has also helped with the management of our daughters weight and associated health.
We are very proud of our daughter. Her 16 year old sister Hannah recently spoke at a school assembly educating students on Prader-Willi Syndrome and the research foundation. It was very touching when she commented about how proud she was of her sister. Both of her sisters are very supportive of her and have a close relationship with her.
There are many stressful times for our family because of Prader-Willi Syndrome but we are constantly learning to try and focus on the positives and keep positive about opportunities as they arise. This is not always east. We have learned a lot from other families who share their experiences of Prader-Willi Syndrome and hope that future research and funding will help our daughter to achieve a productive and happy life, reaching her full potential.
The lead-up to Christmas can be a challenging time for people living with Prader-Willi syndrome and their families. We've developed a list of suggested advent calendar activities which are appropriate for children aged 4 - 12 and encourage physical activity. We suggest tailoring the activities for your child, including increasing the number of minutes of activities as appropriate. This guide on exercise and physical activity for children with Prader-Willi syndrome may be helpful (opens as PDF):
Suggested activities for your advent calendar:
- Draw something you hope to get for Christmas
- Santa loves red and green. How many red and green things can you count in your bedroom?
- Do something kind for somebody else
- Make a Christmas card for your favourite person
- Do a happy dance
- Do five jumps for joy!
- Sing a Christmas carol
- Take a special family photo
- Read a Christmas book
- Say one nice thing about every person in your family
- Do ten jumps for joy!
- Try to say all of the names of Santa's reindeer
- Draw a picture of your favourite Christmas memory
- Play musical statues using a Christmas song
- Make a Christmas video
- Dance to a Christmas carol
- Draw a picture of you for Santa
- Santa has to run really fast to deliver all the presents. Run as fast as you can for two minutes
- Count how many houses on your street have Christmas lights
- Do tiny elf steps for two minutes
- Count how many houses on your street have Christmas trees in their front yard
- Watch a Christmas movie
- Go ourstide and look at the stars
- Make a sign for Santa so he knows where to find you.
Our thanks go to volunteers Lyndsey Cullen and Melanie Carew for their efforts developing this calendar. Lyndsey is a qualified primary school teacher with an interest in encouraging physical activity in school aged children. Melanie is the volunteer director of science communication for the Prader-Willi Research Foundation of Australia.
You can download and print a copy of this post at: https://drive.google.com/file/d/0B-cuqbljf-r6WmtEZnJmdVZ4Zm8/view?usp=sharing
What is your expertise and experience?
I have a strong interest in gene therapy and its promise to treat or even cure many forms of human disease. I began my research career as a PhD student at the Murdoch Children's Research Institute by investigating different ways to effectively and safely introduce DNA into various human cell types. Following the completion of my PhD, I moved to Wisconsin (USA) for a postdoctoral position with Dr James Thomson acquiring experience with stem cell culture, reprogramming and gene editing. In 2011, I was lead author on a publication that was the first to report gene repair in patient-specific induced pluripotent stem cells. I recently returned to the Murdoch Children's Research Institute for a research fellowship and to continue to develop and apply my expertise in reprogramming and gene editing.
Where do you see opportunity for breakthroughs in Prader-Willi Syndrome?
Pluripotent stem cells can become any of the 220 cell types found in the human body so they offer enormous potential for studying human disease and drug discovery. iPS cells are particularly useful for studying Prader-Willi Syndrome because they can be used to derive the cells that are most affected but not easily accessible (e.g. those in the brain). I believe that one of the most exciting avenues of research is using genetically modified iPS cells in sophisticated "drug screening" assays to identify specific compounds that could be used to treat Prader-Willi Syndrome. People who have Prader-Willi retain at least one copy of the DNA region which is known to be involved in the syndrome, but this "maternal" copy is normally inactivated by epigenetic factors in a process known as genomic imprinting. My research explores the possibility of reactivating this maternal DNA region using therapeutic compounds.
Why are you involved in the Prader-Willi Research Foundation of Australia?
I have always loved being a scientist because of the thrill of discovery and sharing my knowledge with others. I'm excited that the Prader-Willi Research Foundation of Australia brings together passionate and dedicated people who bring a vast wealth of knowledge, resources and expertise to the table. What's more, we all share the same fundamental goal, to better the lives of people living with Prader-Willi Syndrome. I'm excited to think that my research could benefit the lives of children living with this syndrome.