Our newsletter for October 2018

Our news and events for 2018, to the end of October.

Covering the visit to Australia by Prof Randi Hagerman, a new FXTAS clinic in Melbourne, a clinical trial in Australia, fundraising and family stories.

 

 

 

FX Info_October 2018_website version

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Clinical trial in Australia: boys & girls with Fragile X syndrome

From September / October 2018 Zynerba Pharmaceuticals is running a clinical trial in Australia in boys and girls with Fragile X syndrome, aged between 3 and 17.  The trial sites are in Melbourne, Brisbane and Sydney.  This a followup to a trial run in Australia in 2017 of a transdermal CBD gel.

The following is provided for information only.

From the Zynerba Pharmaceuticals website:
“ZYN002 is the first and only pharmaceutically-produced CBD, a non-psychoactive cannabinoid, formulated as a patent-protected permeation-enhanced gel for transdermal delivery through the skin and into the circulatory system. ZYN002 is being developed for patients suffering from Fragile X syndrome (FXS) and certain refractory epilepsies including developmental and epileptic encephalopathies (DEE). The FDA has granted Zynerba Orphan Drug designation for the use of CBD as treatment of patients with FXS.”
https://zynerba.com/in-development/

The flyer for the trial has contact details for each of the trial sites in Australia:

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FXTAS clinic in Melbourne

A Fragile X-Associated Tremor Ataxia Clinic has recently opened at AlfredHealth in Caulfield, Melbourne.

The clinic offers help in the diagnosis and management of people affected with FXTAS, and also has a research focus.

The clinic operates on a Friday morning once a month from 8am to 1pm.  A referral from a GP or other medical practitioner will be required.  Bookings can be made directly with the clinic by calling: (03) 9076 6800.


The FXTAS clinic is operated by Dr David Szmulewicz.
David is an Australian Neurologist, Neuro-otologist and medical researcher. He holds a PhD from the University of Melbourne and his clinical and his research interests include work aimed at gaining a deeper understanding of how FXTAS may effect patients as well as future treatment options.

David is the head of the Balance Disorders & Ataxia Service at the Royal Victorian Eye & Ear Hospital, founder of the Alfred Hospital Cerebellar Ataxia Clinic and Lecturer at Melbourne University. David is lead investigator on research to develop objective ataxia metrics, a project defining a new cerebellar ataxia – Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS), as well as the development of an objective oculomotor (eye movement) test of imbalance – the video VVOR.
He is co-director of The Australian Temporal Bone Bank.

David undertook his specialty cerebellar training with Prof Elsdon Storey and currently collaborates on research into FXTAS with both Prof Storey and
Dr Danuta Loesch, both of whom are internationally well known FXTAS
researchers.

FXTAS clinic flyer Melbourne

 

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Annual General Meeting 11 November

Notice of Annual General Meeting of Fragile X Association of Australia Inc

DATE:                   Sunday 11 November 2018
TIME:                     2:00—3:00 pm
PLACE:                Fragile X Association of Australia
Suite 204, 20 Dale Street,  Brookvale   NSW  2100
Followed by Afternoon Tea

RSVP:                    5 November 2018, to  wendy@fragilex.org.au

AGENDA

1.       Welcome
2.       Apologies
3.       Confirmation of Minutes of Annual General Meeting of 26 November 2017
4.       Matters arising from the Minutes
5.       Year in Review and Presentation of Annual Report
6.       Treasurer’s Report
7.       Appointment of Auditor
9.       Election of Board Members
Nominees (see bios below):
           Election
                 Wayne Pointon
Kate McKeand

           Re-election
                 Judith Lenart
Christine Kelleher
Prof  W Ted Brown
Graham Hook
Katherine Brown

10. Announcement of 2018 Achievement Awards
11. Other business

DIRECTOR NOMINATIONS

Director nominations

Wayne Pointon Wayne lives in Busselton, Western Australia with his wife Lisa, their daughter Emma (9) and twin boys Ben & Zak (6). Zak has Fragile X syndrome whilst his siblings are unaffected. Wayne has held several senior positions in the public sector in analytics and investigations, and in enforcement and compliance operations. He currently holds an operational leadership position within the mining industry. Wayne enjoys spending time fishing and camping with his family.

Kate McKeand   Kate is a disability advocate and mother of two children who have Fragile X full mutation. She is based in Melbourne and is a director of a consulting organisation that specialises in supporting and empowering participants in the National Disability Insurance Scheme.  She has represented families of children with disabilities on a number of consumer and advocacy bodies, and has presented at a wide range of forums on inclusion of people with disabilities, disability supports and NDIS. Originally an environmental engineer, Kate has experience working in board and management roles in the not-for-profit, government and consulting sectors. Kate loves yoga and the Australian bush, and is attempting to establish a sensory garden at home with the help of her children and husband Stuart.

 Director re-nominations

Judith Lenart               (Treasurer, and Co-ordinator of the Board 2018)

Judith is an experienced director with a background in business, education and health. She has served on the boards of several companies and charities in Australasia. Judith joined the Board of Fragile X Association in 2014 and has served as both Secretary and Treasurer. She is a registered valuer and has served on the finance committee of CatholicCare Broken Bay, New South Wales. Judith is based in Sydney.

Christine Kelleher       (Secretary 2018)

Christine has been involved with Fragile X Association for nearly twenty years, including serving on the board and the executive committee several times.  She is a mother of three adult children, two of whom have full mutation Fragile X. Christine is passionate about seeing the Association succeed and sharing her knowledge of raising affected children within the Fragile X community. Christine is based in Sydney. 

Prof Wm Ted Brown    (Director 2018)
Prof Brown MD is the recently retired Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, New York. Upon retiring, he moved to Sydney and married paediatrician Dr Jacqueline Small, who runs a clinic for children with developmental disability. He has an appointment as Visiting Professor at the University of Sydney. Much of his 35 year research career has focused on Fragile X syndrome and on autism. He was the first to describe a relationship between autism and the Fragile X syndrome. His team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X, and subsequently have provided prenatal diagnosis for more than 1,400 known carriers. His laboratory has developed a sensitive antibody test to quantify the Fragile X protein levels in blood spots. His clinic was a participant in the Fragile X drug trials sponsored by Seaside, Novartis and Roche. Prof Brown is based in Sydney.

Graham Hook           (Director 2018)
Graham’s son James is an adult who has Fragile X syndrome.  Graham re-joined the Board in May 2016, having previously served as a director, Vice-President and President of Fragile X Association.  Graham has also served on the board of Duke of Edinburgh Awards, and Life Be In It (NT).  He is a current member of the Australian Institute of Company Directors.  Graham spent the majority of his career in the Air Force and now serves as a business manager within the Department of Defence.  Graham also volunteers with Special Olympics Queensland as a basketball coach for one of the Brisbane teams.  In his spare time Graham enjoys gardening, cultural events, catching up with friends or just being with his wife Amanda.  He is an amateur artist who enjoys doing landscapes and portraits in oils. Graham is based in Brisbane.

Katherine Brown        (Director 2018)
Katherine is English and moved to Australia in 2006 with her husband David. Together they have two children: Samantha is 9 and has not been tested for Fragile X; Andrew is 7 and has Fragile X syndrome. Katherine joined the Board in 2016. She has worked in the finance industry for over 10 years. Before moving to Australia she was supervising a debt recovery team for a stock broker, representing the company in court during disputed claims. Katherine built on her public speaking experience in 2012/13 before returning to the finance industry in a sales role. She has recently taken up running and likes to run for fitness with friends. Katherine is based in Adelaide and has taken part in several organised running events and has used these events to fundraise for Fragile X Association on several occasions

Fragile X Association Annual General Meeting 11 November 2018_notice and nominations

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New videos: Q&A with Prof Randi Hagerman


In August and September 2018, we hosted a series of presentations by Professor Randi Hagerman, Medical Director of the MIND Institute of UC Davis, California.

LECTURES:  Dr Hagerman’s lectures were videod and will be available on our youtube channel soon.

Q&A VIDEOS: Dr Hagerman was also filmed for a series of short Q&A videos on topics related to Fragile X. All available on  our youtube channel.

1. Living with Fragile X syndrome  is the first video in the series and covers dealing with diagnosis, treatments for Fragile X syndrome, school, puberty, and living independently.

2. Health issues for carriers of the Fragile X premutation (Carrier health: part 1).
There are a variety of health issues premutation carriers can experience, and which are much more common than FXPOI or FXTAS.  They include anxiety, depression, sleep disturbances, and pain problems such as migraine and fibromyalgia.  Dr Hagerman talks about the need to recognise these health problems – with their new name FXAND –  so that doctors understand their association with the premutation and that they require treatment.

3. Health and wellness for carriers of the Fragile X premutation (Carrier health: part 2)
Strategies for maintaining health and wellness.  What to avoid, and what to focus on.

4.  Targetted treatments in Fragile X syndrome (Part 1)
Prof Randi Hagerman talks about some of the targetted treatments for Fragile X syndrome, including SSRIs and metformin. (In Pt 2 Dr Hagerman will talk about new treatments being studied in clinical controlled trials.)

Videos 5-6 will be posted from 24 October 2018

 

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Annual General Meeting and Call for Board nominations

Annual General Meeting 2018

Our members and friends are invited to our 2018 Annual General Meeting.

Date:  Sunday 11 November 2018, 2:00-3:00pm
Place:  Suite 204, 20 Dale Street, Brookvale NSW 2100
RSVP:   wendy@fragilex.org.au

Members outside Sydney can join the meeting by phone or by Zoom.
Dialin details will be made available closer to the date.

The notice for the Annual General Meeting, including the agenda, will be posted online and to members by email in October.

Call for nominations for the Board
Members interested in joining the board of volunteer directors may be nominated.
The maximum number of directors is 8.

Nomination process:
1.   Complete the attached nomination form which requires a nominator and a seconder, both of whom must be members of Fragile X Association
2. Return the completed form by close of business on Friday 12 October 2018.
To:  wendy@fragilex.org.au
3.  Nominations will be presented to the AGM on 11 November and voted on at that time.

FXAA Board nomination form 2018

If you have any questions about the Board or the nomination process, please contact Wendy Bruce on 1300 394 636 or by email:  wendy@fragilex.org.au

 

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The Latest on Fragile X | Dr Randi Hagerman in Melbourne 27 August & Sydney 3 September

It was a great pleasure to welcome Dr Randi Hagerman back to Australia!   Dr Hagerman was last here in 2015.

Dr Randi Hagerman presented on the Latest on Fragile X  –   in Melbourne at the Royal Children’s Hospital on 27th August, and in Sydney at the Garvan Institute of Medical Research on 3rd September.

Dr Jonathan Cohen from the Fragile X Alliance also presented at the Melbourne event.

Videos of some of the presentations will be made available on our youtube channel, and Dr Hagerman also made a series of brief Q&A videos, also on youtube.

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Pre-conception carrier screening trial announced by Federal Government

One in 20 Australians carries at least one altered gene that could cause cystic fibrosis, SMA or Fragile X syndrome in their children.

On 8 May 2018, the Federal Government announced a $500 million pledge to the Genomics Health Futures Mission, as part of its National health and Medical Industry Growth Plan.

The first project for the Genomics Health Futures Mission is called Mackenzie’s Mission – a large scale pre-conception carrier screening trial, which will screen 10,000 couples for Fragile X, Cystic Fibrosis and Spinal Muscular Atrophy over  a 10 year period.

According to a news report by the ABC medical report Sophie Scott, “The study is the first step in offering pre-pregnancy genetic screening for all prospective couples.  Under the program, if couples are found to be at risk of having a child with a serious genetic condition, they will be offered financial support for IVF treatment. Under the trial the screening test will be offered to couples at no cost.”

Read more:
ABC News website:  http://www.abc.net.au/news/2018-05-09/budget-genetic-testing-initiative-is-mackenzie-casellas-legacy/9742198

Federal Government Budget Paper: https://www.budget.gov.au/2018-19/content/overview.html

We expect to have more detail about this pre-conception carrier screening trial over the coming months.
Contact us in the Fragile X Association of Australia office:  02 9907 2366

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Prof W Ted Brown has joined our Board

BROWN_WT_6148ColorAdj_crop3The Board of directors of Fragile X Association is delighted to welcome Prof Wm Ted Brown, who has joined the Board.

Prof Brown has been working in the fields of Fragile X syndrome and autism for over 35 years.  He is the recently retired Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, and has relocated to Sydney.

Born in Montana, USA, he received his PhD in Biophysics from Johns Hopkins University and his MD from Harvard Medical School. After training in Medical Genetics at the Cornell Medical School in Manhattan, he was recruited to be Chair of Human Genetics at the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, NY. There he first heard about and began research on the Fragile X syndrome (FXS). Having read the research reports of Australian Fragile X pioneers, Gillian Turner and Grant Sutherland, he and his team set about to identify the first cases of FXS in the eastern USA. They examined 15 males with undiagnosed causes of DD at the Willowbrook State School in NY and found 4 had macroorchidism and FXS. They published a 1981 report in the British journal Lancet highlighting the observation that enlarged testicular volumes could be a very useful screening examination to identify FXS.

He was also the first to publish in 1981 that autism and FXS are associated. His team found 5 of their first 22 FXS cases had a prior diagnosis of autism. This report lead many groups to subsequently look for FXS among males with autism. His team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X, and subsequently have provided prenatal diagnosis for more than 1,400 known carriers.

Dr Brown met Drs Turner and Sutherland at the first NIH sponsored workshop on FXS in 1983 in Washington, DC.  In 1985, just prior to a second international workshop on FXS held on Dunk Island, Queensland, he went on a one week, two jeep, safari from Cairns along the coast to Cooktown and back through the interior with with Drs Gillian Turner, Randi and Paul Hagerman and their two daughters. Dr Brown has attended most of the 22 international workshops on FXS held every other year, and has attended and presented at many other international FXS meetings.

His laboratory has had a focus on improving diagnostic measures for FXS, including developing the first PCR method for analysis of full mutations. His laboratory has recently developed a sensitive antibody test to quantify the fragile X protein levels in blood spots, which can be used for low cost screening. His clinic was a participant in the recent Fragile X drug trials sponsored by Seaside, Novartis and Roche. He has been the principal investigator on a long-standing CDC sponsored study of the natural history of Fragile X that includes some 26 clinics in the US.

Upon retiring, he moved to Sydney in January 2017 and married pediatrician Dr Jacqueline Small, who runs a Sydney clinic for children with DD. He currently has an appointment as Visiting Professor at the University of Sydney and is doing research with Drs Stewart Einfeld and Stephen Simpson. He is a fellow of the American Board of Internal Medicine and the American College of Medical Genetics. Much of his 35 year research career has focused on the Fragile X syndrome and on autism.

He has also had a long-standing interest in the genetics of aging. Prof. Brown is an authority on Progeria, a premature aging syndrome and was instrumental in the discovery of the genetic mutation that causes this disease. This has led to a treatment trial with a new set of drugs that is showing significant improvement in the children with this dramatic disease resembling accelerated aging.

Prepared for Fragile X Association of Australia Inc, March 2018.

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New Videos! Dr Marcia Braden on Daily Living Skills and Supporting Learning

For BRISBANE FX Community Day details: CLICK HERE

Dr Jonathan Cohen, Dr Marcia Braden

In November 2017, Dr Marcia Braden, eduational psychologist, was in Australia as a guest of Fragile X Association, to run some clinic assessments for children with Fragile X and present at two workshops.  The workshops, in Brisbane and Hobart, were part-sponsored by Chorus Call Australia and the Calvary Hospital Foundation.

Watch the videos of the presentations by Dr Braden, Dr Jonathan Cohen, and other speakers on our youtube channel

  • Daily Living Strategies and Successful Supports for Children and Adults with Fragile X – by Dr Marcia Braden
  • Supporting the Fragile X Learning Style:  Strategies for Success – by Dr Marcia Braden
  • Fragile X: an Update and Overview – by Dr Jonathan Cohen
  • Getting the Best Outcome for Communication – Supporting Language Development – by Melinda Cassells, www.speechie.com.au

All on our youtube channel:   http://bit.ly/2FT5pCV

 

 

 

 

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