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Bits and Pieces October 2017

Contents

  • From the team
  • Support group news
  • In the media
  • Conferences and seminars
  • Resources
  • Community
  • Research
  • Seeking contact
  • GSNV Calendar

From the team

Dear GSNV community,
 
I hope you’ve managed to survive the cold and chills of the last month and are feeling the warmth and thawing out of spring which finally seems to have arrived.
 
Sometimes it feels like we spend forever waiting on things to happen, for winter to end and the sunshine to appear. We make detailed plans, lay a strong foundation and develop support, and still with our best intentions and efforts it still seems to take forever.
 
I learnt a lesson recently I’d like to share where I had completed all this work in my head – I’d lived with my plans and thoughts for months, developed a real enthusiasm and energy for the anticipated outcomes, only to discover that there was one huge flaw in my best intentions. I hadn’t brought anyone along on the journey with me. People needed the foundation to be able to build their ideas upon, the time to gather their thoughts and to feel, the enthusiasm and energy that I do. So I’ve gone back to drawing board – engaging people through small steps while keeping the destination still firmly fixed in my mind. It really does take a team approach.
 
Its easy to get disillusioned at these times, to find yourself exploring all the reasons why something didn’t happen or won’t happen. I’ve chosen to focus on the outcome, re-confirmed for myself that it is every bit as critical and important as it was when I first started thinking about it – important enough to step back and plan small steps that engage and include everyone. It may take longer, it may be more difficult but it will be achieved and that makes it worth it.  Even more worth it, is that it will be achieved together, a combined effort with a much more significant and broad impact.
 
In this time of new beginnings and spring cleaning, this reflection reminds me to clean out the old ideas that aren’t working and find new ways to achieve the same objectives.
 
This newsletter is filled with amazing people doing extraordinary things by finding a new way and bringing people along, communicating and engaging. So with a rethink and this for inspiration I’m looking forward to the new season.
 
If you would like to begin something new too, the GSNV Committee of Management is seeking new Board members to provide governance oversight and guidance for the GSNV.
 
The Committee of Management is critical to the ongoing successful operation of the GSNV and sets the strategic tone, provides leadership to ensure the achievements of objectives and supports innovation in adapting to changing environments. Our Committee is a forum of critical inquiry into the overall health of the organisation, with a focus on risks, accountability and performance.
 
If you would like to assist us as a member of our Committee of Management, please forward your CV. Feel free to contact me for or our Secretary Anna Jarmolowicz on anna.jarmolowicz@vcgs.org.au for further information.
 
As we are coming to the close of the year, the GSNV will commence our planning process for 2018. We’d welcome your feedback on what you would like us to do more of, how we could assist people with genetic conditions and those who support them with more impact and where you feel our resources would be most effectively directed. I’d welcome an email from you on monica.ferrie@vcgs.org.au.
 
Embrace the new season, we look forward to hearing abut your successes.

Monica Ferrie
Group Leader
 

Support group news

6th - 8th October 2017
Metabolic Dietary Disorders Association (MDDA) family retreat - Kalorama

MDDA retreats are designed to be relaxed weekends away to get to know and enjoy the company of other families and members of the MDDA. The retreats will provide an invaluable opportunity for people with inborn errors of metabolism and their families to meet in a social environment and build positive relationships with other members of the MDDA community. The CountryPlace Conference Centre is an impressive venue and will set the scene for a perfect weekend away for the whole family. More details here.

7th October 2017
Alpha Meet Up - Melbourne
Come along and meet others with alpha-1 antitrypsin deficiency. This is a casual and social meeting for a drink and a chat. Everyone welcome - alphas, their families and friends. For information email Jenni on jenni.nankervis@alpha1.org.au or phone 0407 334 107.
Meet at 2pm, Grill'd Camberwell 879 Burke Rd 3124 Camberwell, Victoria

8th October 2017
Tuberous Sclerosis Australia (TSA) - Information Day

You are invited to join Tuberous Sclerosis Australia at their Melbourne Information Day, an event for people with TSC and their families. This is an important educational event for people with tuberous sclerosis complex (TSC) and their families. The event will include TSC expert speakers, a chance to meet others living with TSC and the presentation of the 2016 and 2017 Elizabeth Pinkerton Memorial Award
Location: The Royal Children’s Hospital, Parkville
Time:  Registration from 8:30am for 9am start. The day will conclude at 3:30pm.
An informal dinner will be held on Saturday 7 October from 6:30pm at The Albion Hotel, 171 Curzon St, North Melbourne.
Limited travel funding is still available for people with TSC to attend the meeting along with a carer or family member.
To register visit the website.



12th October 2017
An affair to remember- 4P Aussie Kidz 3rd Annual Gala Fund raiser

Hosted by Russell Roberston 
Join us for an unforgettable evening over a 3 course meal, with an array of silent and and live auction items, and unrivaled entertainment! When: Saturday 12th October 6.30pm - 11.30pm. Where: Southern Golf Club, Lower Dandenong Road, Keysborough Dress: A little bit fancy (No denim please). For further infomation email 4paussiekidz@gmail.com

13th - 14th October 2017
Fanconi Anaemia family meeting 

Registration is now open for the Fanconi Anaemia Family meeting in Melbourne (October 13-14, 2017). It is essential to register for the event for planning purposes, even though it is free to attend. More info here or here.

13th - 15th October 2017
AISSGA national intersex support conference

This conference is FREE for AISSGA members from around the country and open to all people with variations of sex characteristics and their families. This year AISSGA (The Androgen Insensitivity Syndrome (AIS) Support Group Australia Inc) are holding a special retreat style conference near the beautiful Daylesford, just 1.5 hours from Melbourne.  A free shuttle service from Melbourne CBD and Airport will be available and accommodation is provided.  Due to the intimate setting of the retreat, numbers are limited so please RSVP soon.  Registration closes Monday 2 October. Find out more here.



12th November 2017
Melbourne CAHSGA Picnic

Time: 11.30am at the Oaks Picnic Area
Where: Jells Park, Ferntree Gully Road, Wheelers Hill BYO: Picnic lunch and chairs
Contact: Kellie Clay on 0409 004 274
CAHSGA will set up at Oaks Picnic Area (see map), so from a driving perspective you want to enter the park from Ferntree Gully Road, at the South Entrance. If they are unsuccessful at gaining a picnic shelter they will set up the camping shade tent and picnic table. Look out for Blue Balloons. If the weather is against us, an alternative venue is the Wheelers Hill Hotel, Cnr Ferntree Gully Road & Jells Road, which is just down from the park. Please rsvp to chriskell1.ckjb@gmail.com and please include a mobile number for contact just in case. Any further queries please don’t hesitate to email or call on 0409 004 274.

19th November 2017
SWAN Family Christmas Party 

Meet at the Big Goose, 233 Mornington-Tyabb Rd, Moorooduc VIC. Bring the whole family along to the Big Goose and enjoy feeding the animals, tractor rides, sheep dog show, reptile show, spit roast lunch (with kid friendly food) and a special guest. Lunch served at 12.00pm. BYO present for Santa to give your child/children.
RSVP: events@swanaus.org.au or text Heather 0404 280 441 by Friday, 10 November

21st November 2017
GSNV peer support training

Professional counsellors are helpful, but there is nothing more powerful than talking to someone who has been "in the same boat" as you. Peer Support Training is available for all individuals, including staff from support groups. It is a one day workshop and our aim is to help you feel empowered to listen and talk with others who are in a similar position, and share your wisdom and experience. Training is free for GSNV members. Find out how to become a member here. Please RSVP to info@gsnv.org.au. Find out more here
 

In the media

Gene editing update
Ask the Doctor is a new factual series on ABC TV. This episode tells the story of young Alan, a boy whose life-threatening immune disorder has been held at bay through the power of genomic information generated and analysed at the Garvan in Sydney. Presenter Renee Lim describes how genome sequencing led to a diagnosis for Alan, and to a change in treatment that has transformed his health. In addition, presenter Shalin Naik chose to have his own genome sequenced and analysed with the help of Genome.One. Shalin enrolled in a Genome.One pilot study focusing on whole genome sequencing for healthy individuals. He spoke with Associate Professor Marcel Dinger (who leads Genome.One) and with Mary-Anne Young (genetic counsellor and head of clinical services, Genome.One) as he grappled with the science of genome sequencing and the personal and ethical implications of genomic information. Shalin concluded that his own experience with genome sequencing was ‘remarkable’, but recognised that genome sequencing requires informed decision-making and might not be for everyone. Source.

Autism genetic finding
A new study analysing more than 8,000 genomes has found that mosaic genetic changes (mutations that appear in only some of the body’s cells) contribute to autism in about 4 percent of people with the condition. The researchers also found that in some people with autism, these mosaic mutations are also present in some of their parents’ blood cells. This means for these families, the risk of re-occurrence maybe higher than previously thought. Read more here.    

Osteoporosis genetic findings
Research analysing the genomes of 140,000 individuals have identified 153 new gene variants associated with the loss of bone mineral density, which often result in fractures. One strongly implicated gene GPC6 is of particular interest because it encodes a protein that is present on the surface of cells, making it a potential candidate for a drug target. The results could also be used to develop screening programs in the future to identify individuals who would benefit most from preventive measures. Read more here.

Implications of genetic testing on life insurance
A recent parliamentary inquiry into Australia's life insurance industry, has raised several issues. Currently insurance companies are allowed to use genetic test results to discriminate against applicants for life, permanent disability, and income protection insurance (which all come under the life-insurance product category), with little independent oversight or consumer transparency. Australian insurers can also increase premiums, exclude insurance cover for certain conditions such as cancer, or refuse insurance cover altogether purely based on your genetic test results. Under Australian law, life insurance applicants must disclose any known genetic test results if requested by the insurer. This includes results from approved clinical genetic tests, but also less reliable findings from research or direct-to-consumer (DTC) genetic tests, if they are known to the applicant. This may deter some people from having testing or participating in research because they fear unknown insurance implications, potentially missing out on information that could prove useful for their future health and/or scientific understanding of diseases. Read more here.
 

Conferences

4th - 6th October 2017
World Congress on Genetic Counselling - UK

Advances in genomic sequencing technology are promising a revolution in how diseases are diagnosed and treated.  Understanding how these advances are managed and communicated to patients, families and wider society will benefit from empirical genetic counselling research. This new conference will provide a forum that facilitates active engagement between international researchers and practitioners to explore the evidence that guides genetic counselling and the communication of genetics in mainstream medicine, thereby enhancing clinical practice. More info here.

12th - 14th October 2017
Haemophilia Conference Melbourne

HFV is please to announce a limited number of financial subsidies that have been made available to assist their members to attend the 2017 National Conference. The conference brings together people with bleeding disorders and their families and carers, as well as health professionals, policy makers and industry. It is a great opportunity to learn, discuss and to plan for the future. Find out more here.

20th October 2017
2017 Inaugural NF Clinical Symposium - Sydney

The Children’s Tumour Foundation along with Whiteley Medical, is proud to announce the Inaugural Neurofibromatosis Symposium in Australia, to be held in Sydney on 20 October 2017. This event is being held specifically to enable the development of a more cohesive approach by clinical specialists to NF in Australia. This meeting will allow the various clinical specialties to dialogue over the latest research and clinical recommendations of treatment for Neurofibromatosis (NF). It is anticipated that this will become a regular event on the NF calendar. Read more here.
 

Resources

Cantú syndrome registry
There is an international registry for Cantú syndrome, and we are trying to enter as many patients from Australia and New Zealand as possible. If you have patients who may be willing to take part, please email me at edwin.kirk@health.nsw.gov.au or Samantha Mason at Samantha.mason@health.nsw.gov.au. Taking part involves a parent (or the patient, if an adult and able to participate) spending about an hour on the phone with Samantha. If possible we would be grateful for information on the specific ABCC9 or KCNJ8 variant in the family (if any).

NDIS plan review resources
Plan reviews are a normal part of the NDIS. When you become a participant in the NDIS, you will receive a plan which funds reasonable and necessary supports that assist you in your daily living. This plan also helps you achieve your personal goals such as increasing your independence or learning a new skill. Your plan review is the opportunity to check your supports are working for you and are helping you to progress and achieve your goals. It is expected that your first plan review will take place after your first 12 months in the Scheme. These documents will help you to understand and prepare for your plan review.

Cri du Chat Syndrome Information for Professionals
This information has been developed for the Cri du Chat Support Group of Australia Inc. by the volunteer program of the Genetic Support Network of Victoria. Please click here to access the booklet. 

Map your future program
Are you 19 – 25 years old? Do you have a disability? Would you like to practice speaking up for what YOU want? If so, you should think about joining Map Your Future! Map Your Future is a trial program run by Youth Disability Advocacy Service (YDAS). You will talk about learning, being involved in different activities, getting a job, moving out of home and much more. You will also get a Certificate of Completion for finishing the program. For further information or for an Expression of Interest form please contact Luke David on ydasmyfadvisor@yacvic.org.au or (03) 9267 3703.

Talking to children about genetic conditions
We have complied a list of resources that parents can use to help explain genetics and genetic conditions to their children in an age appropriate manner. 
 

Community

15th October 2017
Young Carers Festival

For the fourth year Little Dreamers is celebrating the contribution of all Young Carers and Special Siblings in the community with the Young Carers Festival! Young carers and their families can enjoy a completely FREE well deserved fun-filled, care-free day of activities that will make you jump for joy (much as last years did with the awesome bouncy castle), food to go nuts over (yes, pun intended) and much more.

The responsibility that comes along with being a Young Carer can at times be overwhelming, when caring for others it's important to remember not to neglect your own health. Part of maintaining a good mental health is having an outlet, taking a day to do something that makes you happy and brings you together with others. Make that day the 15th of October and head down with the whole family to the Young Carers Festival! 
 
We would love community groups to bring buses or groups down and enjoy this free day out to celebrate young carers and their families with us. 

The important details:
Sunday 15th October
11am - 3pm
Treasury Gardens,
cnr Wellington Pde and Landsdowne St, Melbourne
Register here.

21st October 2017 (starting on)
How do I handle my child’s acquired facial disfigurement? course

This course is being run by Karibu Anawim. Established in 2015, Karibu Anawim aims to train, equip and nurture people living with facial disfigurement. This course brings you face to face with the challenges most people would never think about through acquired facial disfigurement. Parents, learn how to navigate the many challenges that lay ahead for your child, siblings and others including yourself. This 6 week course is tailored to provide practical insight into the issues relating to living with an acquired facial disfigurement. See the flyer for more information.  

23rd October 2017
Hume Disability Expo

Time: 10am
Location: Hume Global Learning Centre – Broadmeadows
Address: 1093 Pascoe Vale Road, Broadmeadows 3047
Cost: Free
Contact: Christine Scott, Event Coordinator
Telephone: 9416 4003
Email: christine@valid.org.au
Website: www.valid.org.au
With over 60 exhibitors offering a range of support services for all ages, information sessions and workshops, you will also hear all about the National Disability Insurance Scheme and what it means to people with a disability, their families and carers. 

29th October 2017
NDIS Workshop

Christine Scott from VALID will be providing valuable information on NDIS. Even if you have been to a session before, there are always new facts and information to pick up. Christine is a wealth of knowledge and has been involved in the Barwon trial site for the last four years.
Spina Bifida Foundation Victoria invite you to come along:
Where: Hayden Raysmith Room, Level 4, Ross House, 247 Flinders Lane, Melbourne 3000
Time: 2.00pm followed by afternoon tea.
RSVP: Email Michele Cutajar on programs@sbfv.org.au  

31st October 2017
Running Successful Focus Groups and In-depth
Interviews for Project Evaluation workshop

The Chronic Illness Alliance is holding a workshop covering a hands-on introduction to qualitative methods to use in evaluation of programs and projects. Good evaluation helps to get results published and can be used to provide evidence for further funding proposals. Find out more here.  

Research

Incidental findings qualitative study
Researchers at the Sydney Children's Hospital are conducting a study of the delivery and impact of incidental findings from genomic testing. They are interested in interviewing clinical geneticists and genetic counsellors who have returned such results to families, as well as those who have received such results (including adults receiving their own results and parents receiving results for their children). The study consists of interviews which will be conducted by telephone. If you don’t have time to take part yourself, but think your patient may be willing, we would still love to hear from you. A more detailed description of the study is attached; or just email Samantha Mason at Samantha.mason@health.nsw.gov.au or Edwin Kirk at Edwin.kirk@health.nsw.gov.au.
 
Gambling and intellectual disability research
Victoria University researchers are conducting a project called ‘People with an intellectual disability and engagement with gambling: carers' perspectives’. This research aims to explore the experience of carers of people with an intellectual disability who engage in gambling; it will focus on the carer’s perceptions of how gambling impacts the life of the person they care for, both negatively and positively. If you are over 18 and are caring for someone with an intellectual disability who gambles, you are welcome to complete this survey.

Just do it: online strategies to promote exercise adherence
This study is part of the project entitled ‘Just do it: online strategies to promote exercise adherence’. This project will investigate the physical activity beliefs and behaviours of women over the age of 18, who completed active treatment for breast cancer (e.g. surgery, radiotherapy or chemotherapy) two or more years ago, and are no longer living with cancer. Participants will receive information designed to improve engagement in regular physical activity over one month. Find out more here.

Australian Not-for-Profit Workforce Study
The Workforce Study is Australia’s first large-scale research study designed to identify what matters most for making Not-for-Profit work more developmental, healthy, meaningful, and productive. It is open to all levels of employees and volunteers. The more people who respond, the more representative and useful the results for growing people, organisations, and their impact. Find out more here.
 

Seeking Contact

The GSNV works hard to connect individuals and families interested in sharing their experiences and insights with others. People interested in contacting others “in the same boat” can contact the GSNV to provide details and we will assist in making connections.
  • 4q34 deletion
  • Arthrogryposis
  • Autosomal Dominant Osteopetrosis
  • Beckwith-Wiedemann syndrome
  • Cat Eye Syndrome/Schmid Fraccaro Syndrome
  • Constitutional Mismatch Repair Deficiency (CMMRD)
  • Disorders of the corpus callosum
  • Ehlers-Danlos syndrome coexisting with Lynch syndrome
  • Emery-Dreifuss muscular dystrophy
  • GGCX gene mutation
  • Hajdu Cheney syndrome
  • Hay-Wells syndrome/ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.
  • Hereditary Spysiotosis with Iga Nephrophy
  • Megalencephaly Capillary Malformation (MCAP) syndrome
  • Milroy disease
  • Mitchell's disease (Erythromelalgia)
  • Moebius Syndrome
  • Neutral lipid storage myopathy
  • Neutropenia
  • Pantothenate Kinase-associated Neurodegeneration
  • Peutz-Jeghers syndrome
  • Polymicrogyria
  • Potocki-Schaffer syndrome
  • Renpenning syndrome 
  • Schizencephaly
  • Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
  • TRAPPC9 associated intellectual disability
  • Wilson’s disease
  • Wolfran syndrome
  • Xp11.3-11.4 deletion
If you would like to make contact with others in the same boat and share your experiences with the above conditions, please either contact the GSNV office by emailing info@gsnv.org.au or phoning (03) 8341 6315.

For a listing of support groups in Victoria see the links page on the GSNV website: www.gsnv.org.au
 

Calendar

Click here to see the GSNV calendar of events.

CONNECT WITH US


OF THE

Anyone can become a member of the GSNV, and we'd love to have you on board too. Our current members include:
  • support groups
  • individuals and families impacted by genetic conditions
  • health professionals
  • students
  • interested individuals
  • members of the community
The membership fees are used to fund the GSNV Small Grants program that supports the vital work of support groups who are often under resourced and in need of a helping hand.
 
BI-ANNUAL PRINT NEWSLETTER
  • Keeps members informed and updated
  • Includes research, resources, services, and policy updates
PEER SUPPORT TRAINING
  • The GSNV runs peer support training every year, and it is free for financial members
SUPPORT GROUP SUPPORT
  • The GSNV assists with facilitated support group training
  • Support with setting up, incorporating and developing governance
  • Volunteer support and access for projects
  • Accessing resources
ACCESS TO MEMBERS ONLY RESOURCES ON THE GSNV WEBSITE

Find out more here.

We are also currently recruiting new board members for the GSNV committee of management. Please send your expression of interest to info@gsnv.org.au

NDIS events


The National Disability Insurance Scheme (NDIS) provides tailored individualised support to Australians with disabilities, as well as their families and carers.

The scheme aims to enable people to exercise more choice and control in their lives, through an individualised funding model that correlates with their ongoing disability support needs.

The National Disability Insurance Agency (NDIA) holds regular information sessions on the NDIS. These events are free to attend.

Click here to view upcoming NDIS events in your area.

First Step FREE Webinars


Are you in the early days of the journey with your child with a disability?

The First Steps workshops are for parents of children with a disability in the early years before school.

These FREE workshops will help you to understand how the disability services funding works, learn more about services and supports, meet other parents and build confidence. 

Find out more here.

Undiagnosed Through a Mother's Eye book


Through a Mother's Eye is my photographic journey; it is a constructed dreamlike reality that weaves together my personal experience of having ill children, the emotional turmoil felt by both myself and my children, and the experiences of not knowing what is threatening my children’s lives. The series reveals the complexity that undiagnosable, and life threatening diseases present to not just our family, but all families from one day to the next, as well as the challenges of the unknown and unexplained. To understand, through my eye's, what it looks like to watch my children fight for existence.
 
The book includes both fine art and photojournalistic images, and is a therapeutic journey designed for anyone who has been touched by a seriously ill child.  The images are created beautifully in photographic dreamscapes, drawn from not only moments of hope, but also from moments of darkness.

270mm x 230mm and 44 pages long, printed on art paper.  The photographic book is beautifully presented with perfect binding and contains never seen before images of Jenna and Jayda's journey, Volume I.
 
$29.00
Proceeds from every book sold will go to funding Jenna and Jayda's Liver Bear for seriously ill children, and Syndromes Without A Name.

Advocacy Sector Conversations Forum



This forum series provides a space for advocates to gain practical information and share knowledge by participating in topical, interactive sessions. It’s more imperative than ever to keep abreast with the ever changing disability services and supports landscape with the introduction of the NDIS and to understand the impact this will have on the practice of disability advocacy.

The topics will be self managed supports versus agency managed supports in the NDIS, how family violence affects people with disability and child protection standards.

DARU will also be launching the much anticipated Disability Advocacy By the Numbers 2012-2016 report and an exciting new project.
 
Tue 21st Nov, 2017: 11:00am - 4:00pm, Melbourne

Register online

National Carer Counselling Conference


The only conference of its kind where professional practitioners (counsellors, psychologists, and social workers) from across Australia will come together to focus on the therapeutic and counselling approaches demonstrated to be effective with unpaid family and friend carers.

19 October

More info here.

Webinar - Mental Illness and Genetics: Family History, and Protecting Your Mental Health


Tuesday, October 24 at 7pm Central Time  
Wednesday, October 25th at 10am Melbourne time

Brought to you by:
Genetic Counselors and You Webinar Series. Sponsored by the National Society of Genetic Counselors (NSGC), the following webinars are presented by genetic counselors on a wide range of topics. Registration is Free for all guests.

Register here.

CHALLENGEMD! GOLDFIELDS 2017


5TH - 8TH OCTOBER 2017

The ethos of ChallengeMD! is to endure a significant physical challenge on behalf of the one in 625 men, women and children in our population affected by the devastating disorder - Muscular Dystrophy. Over four days, participants will cycle over 400km through North Melbourne, Rowsley, Maldon, Heathcote and Greenvale.

Find out more here.
The Australian Mitochondrial Disease Foundation (AMDF) is the organiser of The Bloody Long Walk. 100% of profits from The Bloody Long Walk will go to the AMDF to fund its patient support, research, education, and awareness programmes.

The walk will be held on 5 November 2017 in Melbourne. Please see the website for all other cities and find out more here.

Act for Alana Movie Event


Act for Alana will host a movie screening of ‘Captain Underpants: The First Epic Movie’ at Hoyts Cinema, Entertainment Quarter, Sydney. The event on October 7 will raise funds for Act for Alana and the Australian Mitochondrial Disease Foundation (AMDF)  - thank you!
 
Act for Alana, organised by Toni Catton in support of her daughter Alana, raises funds and awareness about mito.
Click here to purchase tickets.

Course in Consumer Leadership


The Course in Consumer Leadership (10163NAT) is a three-day course for consumer representatives, consumer leaders and staff of health services.

This foundational course will provide you with the knowledge and skills to work collaboratively and in a range of settings to facilitate and promote consumer engagement with consumers and health service staff. 

For more information see the course outline or see the detailed course brochure.

When will the next course be offered?
Thursday 12, 19 and 26 October.

The three sessions run from 9:30am and 4:30pm. 

To register
Please register through The Benchmarque Group by clicking here.
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