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Suzanne

Survey – genetic testing for prion diseases

By News
Here is your chance to help towards a treatment or cure for prion disease. Ionis Pharmaceuticals, a company based in Carlsbad, California US that develops antisense drugs targeting the RNA. In the past, Ionis has successfully developed antisense drugs that treat diseases such as Spinal Muscular Atrophy and TTR Amyloidosis. they are working on doing the same for prion disease.

They are currently undertaking a survey on genetic testing for prion diseases (PRNP testing) and we ask anyone from a genetic prion disease family or anyone who has undergone or considered genetic testing for prion disease to please complete the survey provided in the link below.  

Your help would be very much appreciated.

CJDSGN Meeting – Perth

By Events, Meetings, News

You are invited to attend a CJD Support Group Network (CJDSGN) meeting.

  • Date: Postponed from June to Saturday 14th August 2021
  • Time:  1pm to 4.30pm – afternoon tea will be provided
  • VenueMantra on Hay
  • Address: 201 Hay Street, East Perth WA
  • Telephone No: 08 9267 4888
  • RSVP: Wednesday 11th August 2021. Final numbers will be required for catering purposes by this date.
  • email: contactus@cjdsupport.org.au or call the toll free number 1800 052466
  • Hosted by:  Suzanne Solvyns and David Ralston representing the Committee of the CJD Support Group Network.
  • Guest Speaker: Dr Christiane Stehmann, Australian National CJD Registry (ANCJDR) – borders permitting.  An update on surveillance, research and improvements to diagnostic tests in particular RT-QuIC.
  • Video updates on current studies and possible treatment options. (A program will be provided once we have confirmation of attendees)

The afternoon session will consist of round tables where you will have the opportunity to ask any questions, share your stories with other family members who understand the difficult journey called CJD and link in with other local family members for mutual support.

For those of you who have attended meetings and conferences in the past we hope that you will also come along to help us to support the new families who unfortunately continue to have their lives touched by this monster of a disease.

The 1800 052466 will be diverted to my mobile in case you need to make contact on the day of the meeting. 

Published paper on identifying potential blood-based biomarkers for CJD

By News

From Professor Andrew Hill, La Trobe University, Melbourne:

We are proud to share this paper published today from our groups in Melbourne (and collaboration with Inga Zerr in Germany) on identifying potential blood-based biomarkers for CJD. We greatly appreciate the support of the CJDSGN Memorial Awards in memory of Lorraine Seabrook, Adrian Chesterton, Norma Crawley, and Danilo Banzon which helped fund this work. The paper is freely available below.

Distribution of microRNA profiles in pre-clinical and clinical forms of murine and human prion disease

Studies Show Pomegranate Supplement Slows Neurodegenerative Diseases

By News

Article link- Studies Show Pomegranate Supplement Slows Neurodegenerative Diseases

Publication (pdf)- Delay of gCJD aggravation in sick TgMHu2ME199K mice by combining NPC transplantation and Nano-PSO administration    by Kati Frida, Orli Binyamina, Areen Usmana, Ruth Gabizona, Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah University Hospital, Jerusalem, Israel b Medical School, The Hebrew University, Jerusalem, Israel

Information provided by Professor Ruth Gabizon from Israel and studies into Pomegranate Seed Oil (PSO) marketed as Granagard.

LAY SUMMARY  of the publication:

Granagard is a nano formulation of PSO (pomegranate seed oil). PSO comprises 80-90% of Punicic Acid (omega 5) which is the strongest natural lipid antioxidant. In vivo, Punicic acid metabolizes into a specific form of conjugated linoleic acid (CLA), which is known to be a calpain inhibitor, suggested as a treatment target for several neurodegenerative conditions. While the active components, both PSO and CLA, do not enter the brain following administration of PSO and actually also CLA, following administration of the Granagard formulation, CLA is found in the brain of rodents, concomitantly with its neuroprotective effect that cannot be found when natural PSO was administrated. Most of our prion related experiments were done in a genetic model of E200K CJD. These mice are born heathy, then start to show neurological disabilities at 5-6 month of age and from there deteriorate until a terminal state at about 12 months of age. They mimic the situation of healthy carriers since they present spontaneous disease caused by a mutant PrP. Continuous Granagard administration from birth or 3 months of age delays the presentation of terminal disease in these mice by almost 6 months. The mechanism of activity of Granagard is most probably related to the maintenance of normal mitochondrial activity even under the stress caused by abnormal protein aggregates, thereby allowing neuronal survival under disease. This is applicable to a number of neurodegenerative disease diseases as well as normal aging.

Several human studies are in process (Alzheimer’s disease (AD) ,Parkinson’s disease (PD). Preliminary results in a double-blind study shows that administration of Granagard as compared to placebo improves memory and cognition in MS patients under diverse treatments. As for CJD, we are mostly interested in delay/prevention in asymptomatic carriers of pathological PrP mutations. It is indeed very difficult to establish a proper clinical study to establish if carriers taking Granagard will get sick later or never as compared to those taking placebo. Nobody wants to be in the placebo group for years and most people don’t want to get tested for the mutation. Therefore, we are looking at this in a different manner. Since Granagard is a safe food supplement beneficial to the general public, we follow a large group of genetic families in Israel in which all/most the siblings in affected families are taking it. Then we look, with the help of the medical community in Israel, at the new CJD patients. We believe 30-50% of CJD affected families are taking Granagard regularly.

We have learned so far that
1: No symptomatic CJD patient has taken Granagard prior to diagnosis.
2: The general number of genetic CJD patients, which was around 20 per year for several years until 2017, has gone down to less than 10 in 2018/2019 and may be as low in 2020.

Obviously, this is all observational and more time is needed to establish if we had affected disease onset, but it looks very encouraging.