Consumer Resources list

HGSA is pleased to provide the following contact information for websites of support groups and organisations but is unable endorse their content or advice. Information on managing genetic conditions on these websites is general in nature and therefore, for an individual, cannot replace the personalised advice of their Clinical Team.

Centre for Genetics Education

The Centre for Genetics Education is dedicated to providing current and relevant genetics information to individuals and family members affected by genetic conditions and the professionals who work with them. Based at Royal North Shore Hospital in Sydney, the Centre’s research and educational activities aim to bring genetics information to the widest audience possible.

Centre for Genetics Education

GUARD Collaborative

The GUARD Collaborative is a coalition of peak body organisations, Genetic Support Network Victoria, Genetic Alliance Australia (NSW), & Syndromes Without A Name (SWAN Australia) that came together to:

Increase awareness of genetic, rare and undiagnosed diseases in Australia
Develop agreed position statements on matters that impact people living with genetic, rare and undiagnosed diseases in Australia to represent their views and for use in advocacy
Collaborate to reduce duplication and ensure consistency of messages on matter of importance to the genetic, rare and undiagnosed disease communities in Australia
Develop and deliver activities in the relevant national documents, including the National Genomic Health Framework and the soon to be developed National Rare Disease Framework.

Guard.org.au

Genetic Alliance Australia (GA)

Genetic Alliance Australia (GA) is a peak umbrella group for rare genetic conditions/diseases, so rare they do not have their own support group. GA endeavours to facilitate contact between families/individuals affected by the same, or similar condition, and/or provide information about relevant support groups both nationally and internationally. GA also deals with enquiries about services and facilitates ongoing support for individuals, families, health professionals and other interested groups. GA has an extensive rare disease database representing 1400 conditions and over 3500 individuals and families affected by genetic and rare conditions.

Genetic Alliance Australia (GA)

Genetic Support Network of Victoria

Set up to meet the needs of our members and the wider community affected by genetic conditions.

Genetic Support Network of Victoria

Rare Voices Australia

RVA is Australia's national organisation advocating for those who live with a rare disease. RVA provides a strong common voice to promote for health policy and a healthcare system that works for those with rare diseases. RVA works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare diseases in Australia. We are the voice of 2 million plus people affected by rare diseases throughout Australia and 70 million globally.

Rare Voices Australia (RVA) established in response to the consensus call from over 200 national attendees at the inaugural "Awakening Australia to Rare Diseases" international symposium held in Fremantle, Western Australia, in 2011.

Rare Voices Australia

Rare Awareness Rare Education (RARE) Portal

The Rare Awareness Rare Education (RARE) Portal contains current, reliable and straightforward information and resources for all rare disease stakeholders customised for the Australian context. There are several ways you can use the RARE Portal. Search for services nationally or by state or territory, or search for individual rare diseases by entering a rare disease name in the search bar at the top of the page.

Rare Awareness Rare Education (RARE) Portal

New Zealand Organisation for Rare Disorders NZORD

Now has a network of 147 support groups. Helps people affected by rare disorders and their families to find essential information. Provides resources and information for rare disease support groups.Monitors rare disease issues and policy matters. Builds partnerships between patients/families, support groups, clinicians, researchers, policy-makers and industry.

The New Zealand Organisation for Rare Disorders

Parent to parent NZ

We seek to support, educate and empower families who have a child or family member with disabilities, health impairments or special needs.

Parent to parent NZ

Australian Galactosaemia Support Network

The Australian Galactosaemia Support Network is a non-profit institution set up to support the treatment of galactosaemia.

Australian Galactosaemia Support Network

Australian Leukodystrophy Support Group Inc

Leukodystrophies are a group of degenerative genetic diseases that affect the nervous system. They most often take hold during childhood with many losing the ability to see, hear, walk, sit up or even swallow. There is no cure for Leukodystrophy and the impact on families is devastating.

Australian Leukodystrophy Support Group Inc

Australian Mitochondrial Disease Foundation

The Australian Mitochondrial Disease Foundation (AMDF) hopes to connect all mitochondrial disease sufferers. One of its main purposes is to provide support and practical information that will improve the quality of life for sufferers and their families.

Australian Mitochondrial Disease Foundation

Australian Pompe’s Association

We are a Support Group for patients who have been diagnosed with Pompe’s Disease, their families and friends. Especially for those who have just recently been diagnosed.

Australian Pompe’s Association

Australian Rare Chromosome Awareness Network (ARCAN)

A support group for rare chromosome families across Australasia.

www.arcan.org.au.

Fabry Support Group Australia

The Fabry Support Group of Australia is a not-for-profit community organisation whose primary aim is to share information about Fabry Disease and available treatment, amongst the Australian Fabry Community.

Fabry Support Group Australia

Fragile X Association of Australia

Fragile X Association of Australia is a member-based organisation which serves as the peak body for the Fragile X community across Australia.
We offer information, support, education, advocacy and referrals to individuals who are impacted by Fragile X-associated disorders and to their families, carers and health and disability service providers.

Fragile X Association of Australia

Lysosomal Diseases Australia

Lysosomal Diseases Australia (LDA) is a national umbrella organisation formed to represent the interests of people effected by lysosomal storage disorders including their families and carers, to maximise resources available for support services, treatment and research.

Lysosomal Diseases Australia

Metabolic Dietary Disorders Association

MDDA is a charity staffed by volunteers. We work in partnership with clinics, government departments. and many others to develop or improve services that benefit ALL Australian's with IEM's.

Metabolic Dietary Disorders Association

MPS Australia (Mucopolysaccharide & Related Diseases Society)

The aim of this site is to support and inform all those who are affected, directly or indirectly, by a mucopolysaccharide or related disease.

MPS Australia (Mucopolysaccharide & Related Diseases Society)

PKU Association of NSW

The Association is based in and around Sydney, NSW Australia but our members are in all states of Australia. Visit our website regularly to keep up with news and events as well as resources available to Australian families living with PKU.

PKU Association of NSW

Syndromes Without A Name (SWAN) Australia

Syndromes Without A Name (SWAN) Australia is the national peak organisation and not for profit charity supporting families who care for children with undiagnosed and rare genetic conditions. We aim to limit the isolations amongst families who care for SWAN children and provide them with information and opportunities to connect with one another for peer support. We advocate for free and equitable access to genetic and genomic tests along with better social services and pathways for our families.

SWAN website

Rare Find Foundation

Rare Find Foundation supports those affected by Tay-Sachs and Sandhoff diseases.

We provide support through the diagnosis and beyond for families and carers affected by these conditions, and Rare Find Foundation is also working hard to support research, create awareness and to help promote carrier screening and early diagnosis.

www.rarefindfoundation.org

Transfer of Ashkenazi Jewish Community Genetics program to SEALS

The Community Genetics testing program for the Ashkenazi Jewish community is relocating its testing laboratory. Commencing from 1st March 2016, the laboratory service will be: SEALS Genetics, at Prince of Wales Hospital, Randwick NSW.

Laboratory address details for specimen delivery are:

SEALS Genetics
Prince of Wales Hospital
Level 4 Campus Centre Building Barker Street
Randwick NSW 2031

The direct contact numbers for the laboratory are:

Tel: 02 9382 9114
Fax: 02 9382 9157
Email: [email protected]

The Scientist in charge of laboratory testing is Monica Runiewicz, and the Genetic Pathologist supervising the service is Leslie Burnett.

Full details of the tests involved please click HERE.