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New guidelines for genetic testing for CJD and other prion diseases

By News

We are very pleased to announce that the guidelines for PRNP genetic testing, produced in 2016 by a working group chaired by Professor Martin Delatycki,  are now completed and have been submitted to the Human Genetics Society of Australasia (HGSA) for ratification.

The following guidelines are recommended procedures, not regulations. They are recommendations concerning the use of genetic testing for the detection of mutations in the prion protein gene (PRNP) and were developed by a committee consisting of representatives of genetic counselling services, genetic testing laboratories, the CJD Support Group Network (CJDSGN) and the Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR).

These recommendations are to be used to protect and assist at-risk individuals and should be therefore freely available to patient families to ensure that they are able to make independent informed decisions. These guidelines are also intended to assist clinicians, clinical geneticists, genetic counsellors, testing laboratories, health departments, ethics committees and lay organisations in caring for patients and their families.

PRNP Guidelines April 2017

Fundraising Raffle

By Fundraising

The Papalia family in WA has organised a raffle to raise funds for CJD research in Australia.

This family lost a husband, father and grandfather to this devastating disease in late 2015 and have been raising funds and promoting awareness since that time.

Tickets are now on sale and $5.00 could win you one of three fantastic prizes.

Please call Maria on 0412905588 if you would like to purchase some tickets, or even better sell a book, to assist this fantastic cause.

All proceeds raised will go to the CJD Support Group Network and every cent will be directed to support research of CJD and other prion diseases in Australia.

Thank you to Poppy’s Crusade for assisting the family with this fundraiser.

Book Mercies in Disguise now released

By News

Book Release

By Events, News

Some of you will remember Amanda Bradley Kalinsky who came all the way to Australia for our Family Conference in 2014 to talk about her experience with Preimplantation genetic diagnosis (PGD). Amanda carries a mutation for GSS (a genetic form of prion disease) that she inherited from her father and she is determined not to pass that mutation onto her children.

Amanda has written a book- Mercies in Disguise: A Story of Hope, a Family’s Genetic Destiny, and the Science That Rescued Them– to be released on March 21st, 2107 and it tells the amazing story of Amanda and her family.

Important changes to the Australian Red Cross Blood Bank Service protocol on donations from family members of individuals who have had CJD or other prion disease.

By News

By Suzanne Solvyns/ Professor Martin Delatycki/ Dr Christiane Stehmann

What does that this mean for you if a blood relative died of CJD or other prion disease?

A blood relative had a genetic form of CJD or other prion disease:

If your relative died of confirmed genetic CJD or other prion disease you will be deferred from donating blood unless you have undergone predictive genetic testing and had a normal prion protein gene ( PRNP) result (no mutation detected).

A blood relative with confirmed or suspected CJD or other prion disease without testing of the PRNP gene:

If your relative died from confirmed or suspected CJD or other prion disease without PRNP testing on DNA to rule out a mutation for prion disease you will be deferred from donating blood unless you undergone predictive genetic testing and had a normal PRNP result (no mutation detected).

A blood relative with confirmed or suspected CJD or other prion disease with documented normal testing of the PRNP gene (No mutation detected):

If your relative died of confirmed or suspected CJD or other prion disease and diagnostic PRNP testing confirmed that your relative did not have a mutation for genetic prion disease you and other first and second degree blood relatives can donate blood.


If I now qualify to donate blood what do I need to provide to the ARCBS?

You will have to provide documentation of PRNP test results, or a letter from a genetic service which confirms that either you, or your relative who died of CJD or other prion disease, had a normal PRNP test result (no proven mutation for prion disease). Once this is logged on the ARCBS database you will no longer be deferred from donating as long as you can fulfill other eligibility criteria.

If you are not sure if testing was been done or your family received the results verbally but have no documentation please call 1800 052466 or email

The ARCBS has advised the following:

To clarify the precise change, the previous guideline stated that prospective donors were excluded if they had a family history of CJD in a first or second degree relative, with the following three specific exceptions:

  1. The relative had variant CJD.
  2. The relative had a recognised iatrogenic cause for their CJD.
  3. The donor has a documented normal genetic polymorphism for PrPc (i.e. in the PRNP gene).

The new updated guideline, as of 13 March 2016, expands the third exception to include the affected relative as well as the donor:

  1. The relative had variant CJD.
  2. The relative had a recognised iatrogenic cause for their CJD.

The donor, or their affected relative (index case), has a documented normal sequencing of the PRNP gene and no abnormal mutation was found.



9th Annual National Conference- Saturday 12th November 2016

By Events, News

Jasper Hotel, Melbourne

This conference on Creutzfeldt-Jacob disease (CJD) and other prion disease is for CJD family members, people at increased risk of developing CJD and health care professionals involved in patient care or infection prevention and control.

Please join us for a day of bonding, awareness and knowledge!

For CJD family members this is an opportunity to meet other families, share your stories, ask questions of the experts and gain knowledge so that you can promote awareness in the community and amongst local health care professionals. You will also gain insight into what research is happening in Australia and overseas and how we can work together to fundraise and support our research teams.

For health care professionals this is an opportunity to learn more about CJD and prion disease or help by sharing your knowledge and experience. We need champions who help promote awareness and knowledge and those of you who attend are our champions.

We also invite genetic family members or any families wanting more information on genetic testing to register for the genetic meeting on Friday 11th November 2016.

This conference is free for individuals or family members personally affected by CJD or other prion diseases.

CJD Conference 2016 Registration Form

The registration form can be downloaded filled in, saved and returned to us by email to:

Registration closes on Friday 4th November 2016.

To book accommodation at the Jasper Hotel please book online and use the code CJD2016 to take advantage of the special rate offered of $145 for deluxe Queen Room. For other room types call 03 8327 2777 and mention CJD conference.

Sue’s Angels run 2016 Gold Coast Marathon

By Events, Fundraising

Join Sue’s Angels and participate in the 2016 Gold Coast Marathon on the 2nd and 3rd of July, 2016.

Participate in the full marathon, half marathon, 10km or 5.7km run, sporting team shirts to raise awareness for the rapidly debilitating Creutzfeldt-Jakob Disease that so sadly cut Sue’s life short on March 25th 2015.

Sue lost her life to this horrible disease, yet so little is known about CJD. It is a one in a million terminal Prion Disease that rapidly attacks the brain and has no treatment and no cure. It stole Sue from us so traumatically just 2 short weeks after diagnosis.

The family and friends of Sue plan to take part in the 2016 Gold Coast Marathon to raise much needed funds to help find a cure and to help prevent other people’s lived being cut short from Creutzfeldt-Jakob Disease.

Get a group of friends together to start training and fundraising!

For more information, please visit the Sue’s Angels Facebook pagenews_suesangels1