Genetic Alliance Australia in Darlinghurst, New South Wales | Public service

Genetic Alliance Australia

Locality: Darlinghurst, New South Wales

Phone: +61 2 9295 8359

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• Medical and health
• Non-profit organisation
• Mental health service
• Public service

25.01.2022 The Royal Australasian College of Physicians (RACP) is seeking consumer representation for the RACP Ethics Committee. The Ethics Committee (EC) provides the RACP Board with advice in areas that raise ethical considerations in the context of policy and advocacy, education, clinical practice and the health of the community, research and financial investment. The appointment is for a three-year term from February 2021 to February 2024. The Royal Australasian College of Physicians welcomes expressions of interest from interested consumers by close of business Monday 4 January 2021. To apply, please submit the following via email to RACP’s Senior Policy & Advocacy Officer, Ms Claire Celia, at [email protected] with an expression of interest letter, outlining suitability and relevant experience and CV in pdf format

25.01.2022 Birmingham Uni researchers are looking for parents and caregivers of individuals between 6 years old to 25 years old, who have emotional outbursts at least once a month. An anonymous online questionnaire is available for parents and caregivers. https://bhampsychology.eu.qualtrics.com//SV_25dCk3mw4PS3Q8t

24.01.2022 Genetic Alliance would like to thank the people who have taken part in the many surveys that have come about as a result of the pandemic. We are pleased to share the Rare disease International, RDI, statement on COVID-19 Response and Recovery. The statement is a message from the global rare disease community and offers recommendations for policy makers and authorities. In June, the team launched a survey to assess the impact of the crisis on members’ patient communities at t...he national and regional level as well as the role rare disease patient organisations have played and continue to play as the crisis unfolds. Your response, input from the RDI Advocacy Committee and Council and other surveys carried out by rare disease patient organisations, have helped to develop a paper that reflects the needs, concerns and actions of the rare disease community.

24.01.2022 Tuesday 13th October 2-3pm AEST, the PACER Network webinar Tanika Davis will speak about Autism Our Way. Tanika will discuss ASD in Aboriginal and Torres Strait Islander communities on perspectives of families and professionals. Apply by email [email protected]

21.01.2022 South Eastern NSW PHN, COORDINARE provides opportunities for consumers and the community to have a greater say over issues that directly affect the delivery of person-centred, high quality and coordinated/integrated health care throughout the region. COORDINARE’s Community Advisory Committee provides expert advice to the Board on consumer and community engagement strategies to ensure where possible decisions, investments and innovations are inclusive, culturally responsive, ...locally relevant and aligned to local care experiences and expectations. For further information, please contact Ms Di Preston-Stanley, Consumer Participation and Events Support Officer, via email at [email protected] Expressions of interest close at COB on Monday 30 November 2020

20.01.2022 Fabry Wellness Retreat, Caloundra Queensland. Fabry Australia will be hosting the Fabry Wellness Retreat in 2021 at the Oaks Oasis Resort in Caloundra, Queensland from 10-12 September 2021. The venue is set on 10 acres of sweeping lush tropical grounds which includes on-site fun-filled waterpark and much more.... Members - $80 per adult, $140 per family (2 adults in same household). Children under 18 FREE. Price includes all activities, meals (excluding drinks) and accommodation. Attendees to pay for travel to and from venue. Included activities (TBC) Yoga, cooking class, art class, swimming, mini-golf and bocce. https://www.fabry.com.au//save-the-date-sep-11-13-fabry-we See more

19.01.2022 Australian Genomic Health Alliance has produced some fact sheets and info-graphics on genetic testing and sharing genomic information. These are available on this link. Thank you for these resources. https://www.genomicsinfo.org.au/

19.01.2022 An Update From PKD on Prescribing Tolvaptan in ADPKD. It has been nearly two years since the first drug to treat ADPKD, JINARC (Tolvaptan) was made available on the Pharmaceutical Benefits Scheme (PBS) for eligible patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Do you have questions regarding treatment? How does Tolvaptan work? How will I know it's effective? What do I need to consider when taking Tolvaptan? If you have questions about treatment with Tol...vaptan or would like to learn more, please join us for this FREE and interactive Webinar on Zoom, presented by Professor Carol Pollock and hosted by PKD Australia. Disclaimer: the information presented in this webinar is of a general nature and should not be taken as specific medical advice. You are encouraged to discuss any matters of concern specific to you or your family with your own medical professional. DATE: Tuesday 8th December TIME: 7 PM (Australian Eastern Standard Time) 9.00 PM (New Zealand, Wellington) REGISTER: Please register in advance here After registering, you will receive a confirmation email containing information about joining the webinar. Please send any questions you have in advance of the webinar to [email protected] There will also be opportunities to ask questions during the webinar. SPEAKERS Professor Carol Pollock Everyone is welcome! Please encourage your friends, family or medical connections to join us. https://zoom.us/webinar/register/WN_h1IQgDE0QW21iXhcIQHftA Kind regards, PKD Australia

18.01.2022 World Alliance of Pituitary Organizations, WAPO, is hosting an eSummit webinar that would be of great interest to pituitary patients, their families and their health care providers. The timing is late in the evening of 3 October Australia Time. The program is available on this link https://web.cvent.com//websitePage:645d57e4-75eb-4769-b2c0 Registration on this link: https://web.cvent.com//751a51be-10c6-437c-afef-9b/summary

18.01.2022 The ABC Health Report this week was on genetics, diagnosis, reproduction and some challenges for the Australian study MacKenzie Mission. It is 1/2 hour long and very informative.

16.01.2022 Mobility and Accessibility for Children in Australia Inc. (MACA) is a new not-for-profit advocating for the rights of children with disability and medical conditions to safe and accessible transport. MACA has been funded by the NDIA to develop a national information resource supporting the rights of all children to safe and accessible transport and participation in community life. To inform the development of the resource MACA, in partnership with Curtin University, has deve...loped a national survey. The survey invites parents, health professionals, organisations and government agencies to share their knowledge and experiences relating to the transport of children with disability and/or medical conditions. Please click on this link to complete the survey https://curtin.au1.qualtrics.com/jfe/form/SV_3n3vJ0g8uFULW6x

16.01.2022 The ongoing global pandemic of COVID-19 has been impacting all of our lives - at home, at work and our health. We know that those who need to access care will be impacted more than many others and this includes members of the Genetic, Undiagnosed and Rare Disease community. At Australian Genomics we would like to find out how COVID-19 has impacted parents with children affected by genetic conditions to get an accurate picture of your experiences. In the link below, there is ...a brief survey (it should only take about 10 minutes to complete) asking you some questions about you and how the pandemic has affected you and your access to healthcare. Further information about the study and the nature of your participation is provided in the attached Plain Language Statement. https://redcap.mcri.edu.au/surveys/?s=YKY3C9HWD4 Your participation is voluntary and your responses will be confidential. You can withdraw from this research at any time and without any consequences. If you have additional questions, please do not hesitate to get in contact with us: Dr Ilias Goranitis, [email protected] Dr Stephanie Best, [email protected]

13.01.2022 PKD Awareness Day. When you raise awareness for PKD, you help others better understand this disease and its impact on Australians. Please share this post to to raise the PKD Awareness Day message.

13.01.2022 Do you live in Western Australia? Would you like to have a say in shaping the WA Health Genomics Strategy 2021? The Department of Health has developed a draft WA Health Genomics Strategy 2021 (the Strategy). The Strategy is intended to coordinate and maximise stakeholder efforts to enable the efficient, effective, ethical and equitable translation of genomics knowledge into the WA health system for the benefit of all Western Australians. ... Anyone with an interest in genomics in WA is invited to provide feedback using a survey on: the vision, underlying principles, enablers of success, key priorities, goals and initiatives for the draft Strategy, proposed horizons for the Strategy’s implementation, and priority actions for focussing implementation efforts and resources over the next two-years. Please follow this link to access and read the draft Strategy and complete the survey: https://consultation.health.wa.gov.au//draft-wa-health-ge/ When? The survey will be open from Friday 11th December 2020 to Sunday 31st January 2021. Why? To ensure the draft Strategy, proposed horizons and priority actions truly reflect the needs and preferences of the WA population, we are seeking your thoughts, ideas and suggestions. A discussion paper is provided with the draft Strategy as background reading if you need additional information. Who? The survey is being coordinated by the Office of Population Health Genomics within the WA Department of Health. More information? If you would like more information about the survey, please email [email protected] or phone the Office of Population Health Genomics on (08) 9222 6888.

13.01.2022 As part of the National COVID-19 Clinical Evidence Taskforce, the Australian Living Evidence Consortium is developing living Australian guidelines for the clinical care of people with COVID-19. CHF is looking for a second consumer to join the Guidelines Leadership Group and be a co-chair of the Consumer Panel . CHF invites expressions of interest from consumer representatives by 5pm on Tuesday 22 September 2020. Interested consumer representatives will need to meet the criteria. Please click on the link for more information. https://chf.org.au//consumer-representative-nomination-for

13.01.2022 Little is known about the workforce for people with Intellectual Disability and Autism Spectrum. Feedback from Registered Nurses on educational and clinical experiences is needed for future education and improve health outcomes. Link for survey. https://scuau.qualtrics.com/jfe/form/SV_bHF51PBzo7tW7C5

12.01.2022 Medicinal cannabis has recently been identified as a potential therapy for the management of behavioural and mental health symptoms in children. MCRI researchers are currently looking for parents of children aged between 0-18 with developmental, behavioural and/or mental health symptoms to complete a 5-10 minute, anonymous, online survey. We would like to identify what parents understand about medicinal cannabis, and what their attitudes are towards using medical cannabis as a potential therapy for managing behavioural and mental health symptoms in children. If you are interested in taking part please click to access the survey. https://redcap.mcri.edu.au/surveys/?s=NRWYX33ATF

12.01.2022 The Usher Syndrome Coalition will host the 13TH ANNUAL USH CONNECTIONS CONFERENCE online on May 10th-15th. The Connections Conference is dedicated to: -Connecting you with the global Usher syndrome community, your USH Family. -Providing clear and accessible updates on progress to treat multiple types of Usher syndrome. -Sharing resources and community perspectives that can help you and your family live your best lives with Usher syndrome. For more information and to register,... https://www.usher-syndrome.org/connections-co/ush2021.html See more

11.01.2022 Health Consumers NSW has just released the Healthcare visiting guide: Enabling family presence in a COVID-19 normal world. This publication was developed with the COVID-19 Consumer Leaders Taskforce and the COVID-19: Consumer Representative Hub on Amplify. Thank you to Laila Hallam, Chair of the Consumers Leaders Taskforce, and Serena Joyner, HCNSW Consumer Engagement Manager, who were instrumental in bringing this together. Since COVID-19 began there has been a tension betwe...en maintaining infection control in hospitals and allowing families to visit. Many patients and family feel that services have not always got the balance right. This Guide seeks to support effective family presence policies and practices, through: 1. Recognising and accepting family presence as the accepted norm, while minimising the risk of infection introduction and spread 2. Explore new and innovative ideas and solutions with patients and families, as partners 3. Plan as a system; apply locally; and review on facts as the situation changes 4. Restore and revitalise stakeholder confidence ‘Together, we’ve got this!’

11.01.2022 Easy Read Fact sheets from the NSW Dept Health on COVID testing are now available. This one is for the steps for having testing done in a hospital. There is another for testing done from your car. https://www.health.nsw.gov.au//Doc/hospital-testing-er.PDF

10.01.2022 Do you or someone you know provide unpaid care and support to a family member or a friend? Young Carer Bursaries support young carers to return to, or continue with, their education. There are 1,000 bursaries to the value of $3,000 available each year. There are over 235,500 unpaid young carers aged 25 years and under in Australia, so there’s a good chance that we all know a young carer. ... Young carers across Australia can apply from: 28th July until 8th September. Apply on this link https://youngcarersnetwork.com.au/young-carer-bursary

10.01.2022 Our online newsletter is now available.

08.01.2022 National Carers Week runs from October 11-17, 2020 and is a chance to recognise and celebrate Australia’s unpaid carers and the contributions they make. This year, you're invited to host an event to give a Shout Out to the young carers in your community. In Australia there are over 235,500 unpaid carers under the age of 25.... Many of these young carers are juggling education alongside their caring responsibilities. By hosting an event you can show young carers that support is available. Upon registering your event, you will receive: A physical celebration kit to share with participants; and Your logo will be published on the Young Carers Network website Shout Out page. Join other schools, VET providers, universities and organisations around the country to raise awareness of young carers by hosting an event during National Carers Week! https://youngcarersnetwork.com.au/shoutout

08.01.2022 The NSW Multicultural Health Communication Service (MHCS) is helping improve mental health services for people from culturally and linguistically diverse communities (CALD) in NSW. This survey is open to consumers and community workers from CALD backgrounds. Please click on the link for more details. https://swinuw.au1.qualtrics.com/jfe/form/SV_0eqT3A9Siv8CfMF

08.01.2022 A worldwide survey by PatientView on the needs of rare diseases group and COVID has finished. 82% of people wanted to be certain of continued care and treatment. Groups reported 54% want to ensure cashflow and 21% arranged peer to peer support on line. Thank you for supporting your members.

08.01.2022 https://scribepublications.com.au//books/the-genes-that-ma. You may like to add this to your reading list. Professor Edwin Kirk, who in addition to having over two decades of experience is that rare doctor who works both in the lab and with patients. In The Genes That Make Us, he explains everything you need to know with humour, insight, and great humanity.

08.01.2022 Your Story Disability Legal Support is hosting an online workshop to find out how we can better promote and deliver our service to Young People with Disability. The workshop will be hosted by our very own Advisory Group member Brianna and will take place on Monday 14 December 2020 at 5:30pm (AEDT) Registrations... If you are a young person (30 years and under) with disability and you have ideas/innovations you want to share, please register your interest. https://yourstorydisabilitylegal.org.au//Register-your-Int Registration closes: midnight on Friday 11 December 2020.

07.01.2022 International Network Expert Meeting will be held on April 24th, 2021 9am- 6pm CET. This event is open to all patients and carers, and is a great opportunity to connect with peers and patient organisations from around the globe. It is also a chance to follow valuable online sessions with the latest updates in the field presented by Fabry experts with live Q&A This meeting is virtual so you can experience it all from anywhere you don’t even have to leave your home or offi...ce! We do acknowledge while the time zone for the meeting make attending difficult for Australian residents, the event will remain open 24/7 for 30 days. Therefore, you can attend whenever it’s convenient for you during this period of time. https://finexpertmeeting2021.vfairs.com/en See more

07.01.2022 https://www.stxbp1disorders.org/webinar-series STXBP1 Awareness Month. The STXBP1 gene is located on chromosome 9q34.1 and was discovered in 2008 in studies of some patients with Ohtahara Syndrome, a severe early onset epilepsy. Since this initial discovery, our understanding of STXBP1 disorder has expanded, revealing a range of patient symptoms. Children may display some of these symptoms in varying severities: Epilepsy, Global Delay, Cognitive impairment (mild to profound...), Autism, Movement Disorders, and Cerebral Palsy. STXBP1 changes impair the vesicular release of neurotransmitter along the synapses. Changes are typically new in families and a single copy of a damaged gene is enough to cause the disorder. The estimated incidence rate for STXBP1 disorder is ~1:30,000, and STXBP1 was recently identified as one of the five most common genes for epileptic encephalopathies and related neurodevelopmental disorders. See more

06.01.2022 Victorian Women's Trust is looking for teens to write for http://Rosie.org.au, our feminist youth website. It's a paid opportunity and they can write a blog on any topic. If you know of a young person who might be interested please pass on this link https://vwt.typeform.com/to/OkNIM6

06.01.2022 Are you in Western Australia? GaRDN is very excited to share that we will be running a FREE photography workshop with Rachel Callander (Super Power Baby Project and Super Power Kids) and Nathan Maddigan (Super Power Kids). Rachel and Nathan will work with a small group of families, teaching them to capture the positivity, joy and beauty in their child’s rare disease using their own equipment, even their phone. Participants will leave the workshop with new skills and some beautiful images. We have had to limit tickets, to ensure the best possible experience for participants, so are asking participants to register their interest at https://gardn.org.au/events/events-calendar/ and 10 lucky families will be selected by raffle.

05.01.2022 TMAU or Trimethylaminuria is a metabolic genetic condition with significant social stigma as it produces a distinct body odour. While the odour is not noticeable to all people, it causes distress for those who have the condition. We have just completed 3 webinars on this condition, one by a clinician, one by a dietician and one by a psychologist on stress associated with this condition. Please share with your networks. http://www.geneticalliance.org.au/news.php

05.01.2022 Thank you to everyone for your support for Genetic Alliance Australia during the year. Our office will be closed from Monday 21 December and reopen on 11 January. Thank you for social distancing, washing and sanitising hands, going into lockdown and learning how to use QR codes and keeping loved ones safe. May your holiday break be filled with memories, friends and loved ones.

05.01.2022 Charcot-Marie-Tooth Association of Australia annual Seminar is going online and everyone is invited (and its free!) We are very excited to be able to deliver presentations from Professor Marina Kennerson, will give an update on developing therapies for CMT, Dr Alison Shield will be talking on Understanding medicines safety in people with CMT, Dr Che Fornusek, will be speaking about the results of his cross-sectional exercise testing and pilot resistance training studies in p...ersons with CMT. Each presentation will be 30 mins, followed by 15 min Q&A When: 5 September 2020 Time : 9:30 am Webinar Link: click the link below to join the webinar: https://us02web.zoom.us/j/86841787380 Passcode: 849357 To help us gauge numbers please register on https://www.facebook.com/events/112937975410

04.01.2022 The NSW Health Elevating the Human Experience Steering Committee has been established to oversee and guide the strategic direction of human experience in NSW. Consumer Co-chair positions are open for applications. The role of the Consumer Co-chairs is to partner with the non-consumer Co-chair to ensure that recommendations are made to the steering committee that represent the views of the Enabler Working Group. The Consumer Co-chair also has the role of ensuring that consumer representatives on the group are given the opportunity to express their views, that these views are given equal weighting to any other group member, and that any concerns about this are escalated to the Consumer Co-Chair on the Elevating the Human Experience Steering Committee. Closes 18 December 2020 https://www.hcnsw.org.au/elevating-human-experience/

03.01.2022 Huntington's Australian National Conference will be held at different times over four days with separate two-hour sessions. It will be recorded so you can participate in your own time or return to a favourite sessions. 25 May to 1 June Register here https://huntingtonsnswact.org.au/national-conference-2021/

03.01.2022 Emergency Preparedness Survey of People with Disability. The University of Sydney, Centre for Disability, Research and Policy has initiated a survey on how prepared people are for an emergency situation such as pandemic, bushfire, flood etc, and to understand what people can do for themselves and what supports they need in an emergency situation. The information you provide will help to find ways to assist people with disability to prepare for, respond to and recover from an emergency event. To complete the survey please use this link https://redcap.sydney.edu.au/surveys/?s=ML4LC3KMEF

03.01.2022 Do you volunteer/ work with researchers? This survey is part of a study being conduct by ACTA and aims to use the data to develop a decision support tool which will be useful for researchers, consumers (patients and the public) and organisations (e.g. funders) to identify: Research questions that matter most to patients, carers, and clinicians Research projects that are potentially more relevant and beneficial to patients and service users (e.g. meet the healthcare need...s) The best and fairest way to rank research studies to allow prioritisation of healthcare research. Australian Clinical Trials Alliance ACTA., is the national peak body supporting and representing networks of clinician researchers conducting clinical trials, clinical quality registries and clinical trial coordinating centres within the Australian healthcare system. To complete the survey please click on this link. https://app.1000minds.com/survey/3962/ACTAsurvey_Consumers

01.01.2022 International Thalassaemia Day May 8th Facebook live event. 5pm Saturday AST. Join forces with TIF, under this years’ International Thalassaemia Day theme, to highlight the huge and heterogeneous inequalities faced by patients with thalassaemia all across the world!https://www.facebook.com/events/459266835307648/?acontext=%7B%22event_action_history%22%3A[%7B%22mechanism%22%3A%22search_results%22%2C%22surface%22%3A%22search%22%7D]%7D