DELEGATE INFORMATION SHEET As the conference is rapidly approaching, we would like to provide you with some useful information to assist you in your preparation to attend. CONFERENCE VENUE Brisbane Convention & Exhibition Centre Corner Merivale & Glenelg Streets South Bank, Brisbane QUEENSLAND 4101 P: 07 3308 3000 https://www.bcec.com.au/ The Brisbane Convention & Exhibition Centre is a world-class purpose-built venue renowned for its operational and service excellence. The Centre is located in a unique urban cultural and entertainment precinct in the heart of Brisbane. REGISTRATION DESK The registration desk will be located on the Boulevard Level (Grey Street entrance) of the Brisbane Convention and Exhibition Centre (BCEC), and will be open for the duration of the conference and will serve as your main point of contact for all conference related enquiries. The registration desk can be contacted throughout the conference on mobile phone 0474 819 725. The registration desk will be open at the following times:

Saturday 5 August 2017 7.30am-6.30pm Sunday 6 August 2017 7.30am-6.30pm Monday 7 August 2017 8.00am-5.00pm Tuesday 8 August 2017 8.00am-3.30pm

Upon arrival at the conference, please ensure you collect your registration pack from the registration desk. CONFERENCE PROGRAM The final program is available on the conference website at https://www.hgsa.org.au/about/HGSA2017-program POSTERS Posters will be displayed in the B1-B3 foyer area and room B3, and will be available for viewing from 1.00pm on Sunday 6 August, to 1.30pm Tuesday 8 August 2017. Delegates are encouraged to view the posters during these times Please refer to the poster abstracts in the abstract handbook and on the conference app for poster numbers and details. The Poster Session will be held on Sunday 6 August, from 6.00pm-7.00pm and includes drinks & nibbles.

CONFERENCE APP Everything you need to know about the conference, including program, abstracts, sponsors, exhibitors and speakers, is conveniently available via your mobile phone or tablet.

SOCIAL FUNCTIONS Welcome Reception Date: Saturday, 5 August 2017 Time: 5.00pm-7.00pm Venue: Boulevard Auditorium Foyer, BCEC Dress: Smart Casual Join delegates and exhibitors for the first networking function of the meeting. This is the official opening of the Exhibition. The Welcome Reception is included with full registrations. Additional tickets are $70. Conference Dinner Date: Monday, 7 August 2017 Time: 7.00pm-11.00pm Venue: City Hall – 64 Adelaide Street, Brisbane City Dress: Retro or cocktail attire The Conference Dinner will be held in Brisbane’s iconic heritage-listed City Hall. Built in the 1920s and conveniently located next to King George Square, in the heart of Brisbane's Central Business District (CBD). With its sweeping marble staircases, vaulted ceilings, chandeliers and mosaic-tiled floor it promises to be an amazing venue for our gala dinner. Bus transfers will depart from BCEC on Glenelg Street at 6.45pm. Return transfers will depart at 11.15pm. The Conference Dinner is included in full registration. Additional tickets are $150. INDUSTRY EXHIBITION The Industry Exhibition will be in the Boulevard Auditorium Foyer, at the Brisbane Convention and Exhibition Centre (Grey Street entrance). The Welcome Reception, morning and afternoon teas, and lunches will be held in the Exhibition Area. Saturday 5 August 2017 5.00pm-7.00pm Sunday 6 August 2017 8.00am-6.00pm Monday 7 August 2017 8.00am-5.00pm Tuesday 8 August 2017 8.00am-2.00pm

INDUSTRY SESSIONS Concurrent industry sessions will be held on Sunday 6 August, 5.10pm – 6.00pm in B1 & B2 rooms. AGILENT TECHNOLOGIES INDUSTRY SESSION (B1) Light refreshments will be served

Optimisation of Variant Analysis for Cardiac MPS Data Dr Michael Fietz, Senior Scientist, Diagnostic Genomics Laboratory, PathWest Laboratory Medicine WA

Agilent Clinical Research Solutions Dan Belluoccio, Ph.D., Sr Field Application Scientist & Clinical Business Architect, Southeast Asia Pacific, Diagnostic and Genomics Group, Agilent Technologies Attend our Agilent Industry Session to find out more on what’s new in Agilent. Our invited speakers will be sharing how Cartagenia Bench Lab helps to reduce time to results by automating data analysis and variant assessment workflows.

SANOFI GENZYME INDUSTRY SESSION (B2) The use of next generation sequencing as a diagnostic tool in the neurogenetic clinic – lessons learnt over the last 4 years. Prof Phillipa Lamont (Head of Neurogenetic Unit, Royal Perth Hospital, Clinical Professor at the University of Western Australia) Next Generation sequencing has revolutionised both routine genetic testing as well as the discovery of new disease genes. For over 4 years now, the Diagnostic Genomics laboratory at Pathwest has been using Targeted Exome Sequencing to provide a diagnostic service. We started with one panel of over 200 genes, and now have five panels. It has enabled us to find mutations in hitherto prohibitively large genes, such as titian and RYR1. We have also been able to provide a genetic diagnosis when the gene involved is extremely rare, providing not only a diagnosis, but also the ability for family planning and sometimes treatment. However, targeted testing does not cover genes not yet identified as disease causing. It also has limitations with mutation types such as triplet repeat expansions. My talk will cover all of these aspects and more, with many clinical examples.

CONFERENCE WiFi The conference Wi-Fi has been kindly sponsored by the Australian Mitochondrial Disease Foundation (AMDF). To access the Conference Wi-Fi on you device, go to “settings” and click on “WiFi”. Select the network name: Wifi_Powered_by_Mitochondria Enter the password: thinkmito EXHIBITION PASSPORT COMPETITION The Exhibition Passport Competition is open to all fully registered delegates. Passports are provided in delegate satchels. The passport includes images of an historical event/article/item, a past company product/prominent person, or an historical geneticist. Delegates will need to visit booths & match the image, write down the booth number and collect a stamp. Completed entries are then handed in at the registration desk by 1.30pm on Tuesday and the winner is drawn at the Closing Ceremony. There are three $100 VISA Gift Card prizes to be won! BIOMARIN ESPRESSO BAR Stop by booths 6 & 7 and grab a coffee at the BioMarin Espresso Bar. The Espresso Bar is open during morning tea, lunch and afternoon tea on Sunday & Monday, and morning tea & lunch on Tuesday.

ILLUMINA JUICE & SMOOTHIE BAR Stop by booths 1 & 2 and grab a fresh juice or smoothie at the Illumina Juice & Smoothie Bar. The Juice & Smoothie Bar is open during morning tea, lunch and afternoon tea on Sunday & Monday, and morning tea & lunch on Tuesday.

ACCOMMODATION Rydges South Bank 9 Glenelg Street South Brisbane QLD P: +61 7 3364 0800 W: https://www.rydges.com/accommodation/brisbane-qld/brisbane-south-bank/ Mantra South Bank 161 Grey Street South Brisbane QLD P: +61 7 3305 2500 W: http://www.mantra.com.au/queensland/brisbane-and-surrounds/south-bank/accommodation/hotels/mantra-south-bank/ Oaks Casino Towers 151 George Street Brisbane QLD P: +61 7 3017 4900 W: http://www.minorhotels.com/en/oaks/oaks-casino-towers Swiss-Belhotel Brisbane 218 Vulture Street South Brisbane QLD P: +61 7 3120 0800 W: http://www.swiss-belhotel.com/en-gb/swiss-belhotel-brisbane?supseacat=133 Please note that hotel check in is from 2.00pm and check out is 10.00am. All changes of accommodation booked through Conference Logistics must be notified in writing by emailing sharon@conlog.com.au or by faxing 02 6285 1336. Please note that delegates are responsible for paying the balance of their account on check out. GENERAL INFORMATION BRISBANE, QUEENSLAND Brisbane is Australia’s most exciting up-and-coming city. Constantly evolving with new offerings and experiences, the city has received glowing acclaim for its unique charms. We encourage you to arrive a little earlier or stay a little longer to discover what Brisbane and its spectacular surrounds offer you. Blessed with an enviable climate, Brisbane is renowned for its relaxed outdoor lifestyle, friendly locals and warm welcome. The city’s burgeoning cultural and events scene has a reputation for blockbuster shows, international sporting matches, unique performances and exclusive exhibits. SOUTH BANK, BRISBANE The Brisbane Convention and Exhibition Centre is located in South Bank. South Bank is a unique riverside cultural, entertainment and dining precinct in the heart of the city of Brisbane. Set in lush subtropical riverfront parkland, it is a dynamic urban lifestyle and retail precinct that showcases Queensland's art and culture and is home to Brisbane's newest dining destination. Located on a one kilometre stretch of the Brisbane River, South Bank is home to the only sand and swimming beach in the heart of an Australian city. There is a diversity of attractions, with rainforest walks, more than 50 restaurants, cafes and bars, stylish shops, symphony orchestras, state opera companies, performing arts theatres and art culture including Australia's most celebrated Gallery of Modern Art. For more information on where to eat, drink, shop, play and stay in Brisbane, go to www.visitbrisbane.com.au CATERING Morning and afternoon teas and lunches will be held each day in the exhibition area. Dietary requirements noted on your registration form have been passed on to the catering staff. Please ask the Convention Centre staff to assist if needed. At the Conference Dinner, dietary requirements have been passed onto the venue and staff will come around to each table to identify these delegates. If you wish to have a special meal and have not booked one, please contact Conference Logistics.

DRESS Smart Casual dress is the dress code for the meeting and Welcome Reception. Retro or cocktail attire for the Conference Dinner

PARKING The Brisbane Conference and Exhibition Centre provides undercover parking with direct lift access to the Mezzanine level. The maximum daily rate is $28. More information about parking can be found at the Brisbane Conference and Exhibition Centre website.

SPEAKERS’ PREPARATION CENTRE Arbour level, BCEC The Speaker’s Preparation Centre will be open from Sunday 6 August to Tuesday 8 August for the conference speakers. (Note SIG Saturday speaker should load their presentation directly in their SIG meeting room). The Speakers’ Presentation Centre is where speakers are required to transfer their presentation on to the network. The room provides speakers with a private area to review their presentation and prepare before their talk. Advice and assistance from experienced audio visual technical professionals will be on-hand for the duration of the Conference. Presenters should check in at the Speakers’ Preparation Centre at least 4 hours before their presentation or, wherever possible, the day prior if speakers are presenting in the first session of the day. SPECIAL REQUIREMENTS (Medical & Dietary) Every effort has been made to ensure people with special needs are catered for. If you made a specific requirement on your registration form, this has been passed on to the venue. A separate dietary buffet station will be set up for dietary requirements. DISCLAIMER The Human Genetics Society of Australasia (HGSA), the conference organisers and secretariat will not accept liability for the damages of any nature sustained by participants or their accompanying persons or loss or damage to their personal property as a result of the HGSA Annual Scientific Meeting or related events. In the event of industrial disruption or other unforeseen circumstances, HGSA, the Conference Organisers and secretariat accept no responsibility for loss of monies incurred by delay or cancellation. INSURANCE Registration fees do not include insurance of any kind. It is strongly recommended that all delegates take out their own travel and medical insurance prior to coming to the Annual Scientific Meeting. The policy should include loss of fees/deposit through cancellation of your participation in the meeting, or through cancellation of the Annual Scientific Meeting itself, loss of airfares for any reason, medical expenses, loss or damage to personal property, additional expenses and repatriation should travel arrangements have to be altered. The Conference Organisers, HGSA, and the secretariat will take no responsibility for any participant failing to insure. Please speak to your travel agent or airline in regard to this matter. TRANSPORT AIRPORTwww.bne.com.au Brisbane International and Domestic Airport is located approximately 18kms from the venue and can be reached via Airtrain, taxi, bus or hire car. • Black & White Cabs - Phone: 133222 • Yellow Cab - Phone: 131924 Airtrain www.airtrain.com.au Catch the city’s shuttle service – Airtrain, which takes 22 minutes from Brisbane’s international and domestic airports to South Brisbane station. The Convention Centre is then an 8 minute walk away. Airtrain operates seven days a week. Trains depart every 15 minutes in peak periods and depart every 30 minutes in non-peak, Monday to Friday. All services on Saturday & Sunday operate every 30 minutes.

• EXCLUSVIE AIRTRAIN OFFER TO HGSA DELEGATES - download the discount letter here and present at the Airtrain Station at the airport, to receive the special discounted fare of $25.00 return.

TIME ZONE Brisbane is GMT +10.00 hours. CLIMATE Brisbane has a fabulous, truly comfortable sub-tropical climate ideal for outdoor enjoyment all-year round that averages 245 days of fine and sunny weather each year. August is the last month of winter in Brisbane. Days are fine and sunny with mild to warm temperatures averaging 11-21°C. Nights are generally cool, and early morning temperatures can be crisp.

CONFERENCE SECRETARIAT

Conference Logistics P: 02 6281 6624 E: conference@conlog.com.au W: www.conferencelogistics.com.au

We look forward to welcoming you to the 41st HGSA Annual Scientific Meeting in Brisbane