Newborn Screening World View | International Summit 2022

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JOIN OUR INTERNATIONAL SUMMIT ON NEWBORN SCREENING

Streamed live across the world

Newborn Screening World View

June 28–30, 2022

To help celebrate International Neonatal Screening Day, PerkinElmer are proud to invite you to join: Newborn Screening World View.

Streamed live across the world in June 28–30th, Newborn Screening World View gathers together international thought leadership in the field, bringing the whole newborn screening community a unique chance to Learn, Share and Develop.

The summit, streamed live across the world in June 28–30th to help anyone interested in Newborn screening to “Learn, Share and Develop”.

Sign up for the summit now. You can either join our live streamed event or watch the presentations on demand.

OUR THREE-DAY EVENT INCLUDES THE FOLLOWING SESSIONS:

June 28

Newborn screening around the world

Learn about new and expanding NBS programmes. What are the typical challenges in growing screening programmes and the novel ways to overcome them? We will also be celebrating the International Neonatal Screening Day with talks and discussion.

June 29

Leading the newborn screening conversation

Get expert advice on how to optimize workflow efficiencies, throughput and the accuracy of testing. Learn about expanding NBS panels, the latest developments in screening, and take part in Q&A sessions with the speakers.

June 30

The future of newborn screening

Join us for leading insights on tomorrow’s newborn screening. Take a look at next generation sequencing, molecular screening and expanding screening techniques and ideas.

Day 1 Tuesday 28th NBS AROUND THE WORLD
Time (EEST UTC+3)	Subject	Speaker	Country
9.00	Welcome	Petra Furu GM, Reproductive Health
CHAIR: Marika Kase, PerkinElmer
9.05	Opening remarks	Prahlad Singh, CEO PerkinElmer	USA
9.15	Celebrating International Neonatal Screening Day - Greetings From ISNS	Prof. Jim Bonham	UK
9.30	Patient Story / Family Journey GAMT	Hana Young	UK
10.00	Consortium on Newborn Screening in Africa	Andrew Zapfel & Dr. Lulu Chirande	USA and Tanzania
10.20	BREAK (30 min)
10.50	Expanding newborn screening in Egypt - NICU setting	Dr. Lamyaa Mohammed Kamal Fadl	Egypt
11.10	Newborn Screening in Brazil – Past, Present and Future	Dr. Tania Bachega	Brazil
11.30	CASA DOS RAROS: An Innovative Approach to Rare Diseases in Brazil	Dr. Roberto Giugliani	Brazil

Day 2 Wednesday 29th LEADING THE NBS CONVERSATION
Time (EEST UTC+3)	Subject	Speaker	Country
CHAIR: Hanna Polari, PerkinElmer
8.30	Duchenne Muscular Dystrophy: the current therapeutic landscape	Dr. Bohoon Lee	USA
8.50	Duchenne Muscular Dystrophy Newborn Screening: The first 50,000 newborns screened in Taiwan	Dr. Nancy Chien	Taiwan
9.10	A Consented Pilot Study in NYS to Screen Newborns for Duchenne Muscular Dystrophy	Dr. Norma Tavakoli	USA
9.30	Q&A - DMD	Moderator - Hanna Polari
10.00	BREAK (30 min)
CHAIR: Terhi Helenius, PerkinElmer
10.30	SCID Molecular screening implementation	Marie Baekvad-Hansen	Denmark
10.50	Novel SMA Pilot initial findings	Dr. Laura Vilarinho/ Dr. Ana Marcao	Portugal
11.10	SMA, SCID and XLA screening in New South Wales Australia	Tiffany Wotton	Australia
11.30	How NBS is transforming spinal muscular atrophy landscape (and what’s next?)	Professor Laurent Servais	UK
11.50	Why should we include CMV in newborn screening?	Dr. Helen Payne	UK
12.10	Q&A - Molecular (30 min)	Moderator - Terhi Helenius
	BREAK
CHAIR: Sonja Nybom, PerkinElmer
15.30	Improving biotinidase deficiency screening workflow in Tennessee	Blanca Martinez	USA
15.50	MOH NBS Experience in Jordan (CH, PKU, G6PD) and future panel expansion	Dr. Safwan Dababneh	Jordan
16.10	Newborn Screening for Pompe Disease Using a Multiplexing Tandem Mass Spectrometry Assay	Professor Mei Baker	USA
16.30	Newborn Screening for IEMs Using Tandem Mass Spectrometry in North Carolina	Jamie Mills	USA
16.50	Q&A - Lab Workflow	Moderator - Sonja Nybom
17.20	Close for the Day 2

Day 3 Thursday 30th THE FUTURE OF NBS
Time (EEST UTC+3)	Subject	Speaker	Country
CHAIR: Tao He, PerkinElmer
9.00	Newborn Screening for Biliary Atresia	Dr. Sanjiv Harpavat	USA
9.20	Screening for Cerebrotendinous Xanthomatosis: a retrospective biomarker study using both flow-injection and UPLC-MS analyses in 20.000 newborns	Dr. Frederic Vaz	Netherlands
9.40	Preliminary experiences from integrating Galactosemia in the standard expanded screening panel on LC-MSMS	Lars Melgaard	Denmark
10.00	Population-Based Newborn Screening for MPSII-State of Illinois Experience	Khaja Basheeruddin	USA
10.20	BREAK (30 min)
10.50	Impact of second tier tests in the newborn screening of lysosomal disorders	Dr. Alberto Burlina	Italy
11.10	Newborn screen of Mucopolysaccharidosis including MPS I, II, IIIB, IVA, and VI using eight lysosomal enzyme activities quantification by tandem mass spectrometry in Taiwan	Dr. Nancy Chien	Taiwan
11.30	Multiplex analytical approach for 2nd tier test in NBS for IEMs	Dr. Michela Perrone Donnorso	Italy
11.50	Q&A - The future of MSMS	Moderator - Tao He
	BREAK
CHAIR: Maija Siitonen, PerkinElmer
15.30	Genomic Variants and Newborn Screening: Charting the Path Forward	Dr. Amy Brower	USA
15.50	Genomics England - Newborn Genomes program	Dr. David Bick	UK
16.10	Preparing Newborn Screening for Transformative Treatments and Genome Sequencing	Dr. Don Bailey	USA
16.20	Current state and future use of NGS is newborn screening	Dr Enzo Raineri	Australia
16.50	Q&A - NGS	Moderator - Maija Siitonen
17.20	Closing Ceremony	Petra Furu - General Manager Reproductive Health - PerkinElmer	Finland

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