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Programme

Programme February 17

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Sunday March 8
1500 Registration open  
1700 - 1730 Opening Ceremony  
1730 - 1830 Session 1: Welcome Chair: Victor Skrinska
1730 - 1800 O1. History of Newborn Screening; Newborn Screening and Public Health Infrastructure Initiatives Jim Bonham (UK)
1800 - 1830 O2. Newborn screening in Cyprus

O3. Selective Screening for Inborn Errors of Metabolism in Cyprus

Argyris Argyriou (Cyprus)

Anthi Drousiotou (Cyprus)

1830 - 2000 Welcome reception   
Monday March 9
0800 Registration Open  
0900 - 1100 Session 2: Country reports Chair: Gerard Loeber
0900 - 1100 O4. The Status of Newborn Screening Programs In The Countries of MENA Region, Report From Country Delegates  
  Bahrain tbc
  Egypt Heba Khafagy
  Iran Farzad Kobarfard
  Iraq Roula Hamid
  Jordan Safwan Dababneh
  Kuwait Amir Abdelazim
  Lebanon Issam Khneisser
  Libya tbc
  Morocco Layachi Chabraoui
  Oman Fathiya Al Murshedi
  Palestine Authority Samir Khatib
  Pakistan Hafsa Majid
  Qatar- Victor Skrinska
  Saudi Arabia Ahmed Alfares
  UAE Mohamed Salahedin Riad
  Yemen Ahmad Alshehari
1100 - 1130 Coffee (exact time depending on the number of country reports)  
1130 - 1230 Session 3: Challenges Chair Issam Khneisser
1130 - 1200 O5. Experiences, Hopes, Despair and Challenges to Implement Newborn Screening Programs In The Countries of the MENA Region. Layachi Chabraoui (Morocco)
1200 – 1230 O6. The impact of consanguinity on the incidence of inherited metabolic disorders: challenges and opportunities. Tawfeg Ben Omran (Qatar)

 

1230 - 1345 Lunch plus PerkinElmer-sponsored symposium  
1345 - 1555 Session 4: Various conditions Chair Victor Skrinska
1345 – 1405

 

1405 – 1420

 

 

1420 - 1435

O7. Congenital hypothyroidism screening

 

O8. Neonatal screening for congenital hypothyroidism: Experience from Morocco

 

O9. Determining reference ranges for tT4 in dried blood samples of newborn screenings

Farzad Kobarfard (Iran)

 

Asmae Tantane (Morocco)

 

 

Ralph Fingerhut (Switzerland)

1435 - 1455 O10. Congenital Adrenal Hyperplasia Screening Toni Torresani (Switzerland)
1455 - 1515 O11. Cystic Fibrosis Screening Ralph Fingerhut (Switzerland)
1515 – 1535 O12. Severe Combined Immunodeficiency Screening Ghassan Dbaibo (Lebanon)
1535 - 1555 O13. Newborn screening for SCID in the Polish-German trans-border area: experiences from the first year of collaboration.

 

Maria Gizewska (Poland)
1555 - 1625 Coffee, tea  
1625 - 1805 Session 5: Metabolic conditions Chair Anthi Drousiotou
1625 - 1645 O14. Aminoacidopathies, fatty acids and organic acid oxidation disorders screening using MS/MS, updates and new developments Issam Khneisser (Lebanon)
1645 - 1655 O15. Phenylketonuria screening in the Republic of Kazakhstan Alexandra Murtazaliyeva (Kazakhstan
1655 - 1705 O16. Expansion of the Dutch Newborn Screening panel: the first months of screening for CPT-I, PA, MMA Rose Maase (Netherlands)

 

1705 - 1725 O17. Lysosomal storage disease screening, update and latest Rola Mitri (Qatar)
1725 - 1735 O18. Targeted-Population Screening for Mucopolysaccharidoses. Paving the way to newborn screening Zoltan Lukacs (Germany)
1735 - 1745 O19. Screening and diagnosis of Lysosomal Storage Disorders using a two-tier screening strategy of enzyme activity and metabolites by tandem mass spectrometry (MS/MS) Enzo Ranieri (Australia)
1745 - 1805 O20. Advances in treatment of Genetic Disorders: Lessons learned from Neuromuscular and Lysosomal Disorders Tawfeg Ben Omran (Qatar)
Tuesday March 10
0800 Registration open  
0900 - 1000 Session 6: Haemoglobinopathies and related conditions Chair Kate Hall
0900 - 0920

0920 - 0940

0940 - 1000

O21. Haemoglobinopathies Screening in MENA region

O22. Haemoglobinopathies Methodology

O23. G6PD Screening

Mohamed Salahedin Riad (UAE)

Stuart Moat (UK)

Issam Khneisser (Lebanon)

1000 - 1030 Coffee/Tea Break  
1030 - 1150 Session 7: Follow-up and treatment Chair Jim Bonham
1030 - 1050

1050 - 1110

1110 - 1130

1130 – 1145

 

1145 - 1200

 

O24. Follow-up on a positive screening result, practical issues

O25. Follow-up on a positive screening result, clinical issues

O26. Ethical Considerations in Newborn Screening

O27. The importance of cooperation between the public and private sectors in developing countries in the field of newborn screening

O37. Routine Newborn Screening of Newborns. Why can’t ISNS & other International organisations make it mandatory in Asia? Newborn Screening: Why is Asia lagging behind & what can they do?

Victor Skrinska (Qatar)

Amal Saadallah (Saudi Arabia)

Ali Al Odaib (Saudi Arabia)

George Sahyoun (Jordan)

 

Kishore Kumar (India)

 

1200 - 1245 Meeting of the ISNS-MENA members and information on ISNS Chair: Jim Bonham
1245 - 1400 Lunch plus Bio-Rad-sponsored symposium  
1400 - 1800 Session 8: Workshops Chairs: Jim Bonham, Gerard Loeber
1400 - 1530

(Parallel Session)

 

 

Group 1: Participants from countries with existing National NBS Programme

·         Choosing conditions for inclusion in a newborn blood spot program

·         Managing a co-ordinated programme by the use of links to birth registers, KPIs and following up incidents.

·         The need to ensure blood spot quality

·         The practice of EQA and IQ

·         The importance of second tier testing

·         The benefit of gaining outcomes to help assess the effectiveness of screening

·         Maintaining confidentiality and public confidence in screening

 

Moderators: Jim Bonham, Marleen Jansen, Christine Cavanagh, Stuart Moat, Kostas Petritis, Enzo Ranieri, Rose Maase, Rachel Knowles
  Group 2: Participants from countries without National NBS programme

·         NBS: A Primary Health Care Program

·         How to start? Forming a multidisciplinary group

·         Registering birth – old ways and new ways

·         Involving/engaging parents with NBS

·         Taking samples and transport to laboratory

·         Paying for programme

·         Deciding which conditions to include

·         Laboratory Infrastructure, Requirements and Instrumentations

·         Quality Considerations

·         Laboratory Accreditation

·         Confirmatory diagnostics

·         Involving/engaging Clinical professionals

·         Information to parents

·         Nutritional Interventions

·         Involvement of ISNS

 

Moderators: Gerard Loeber, Kate Hall, Ghassan Abdoh, Victor Skrinska, Maria Gizewska
1530 - 1600 Coffee, tea  
1600 - 1730

(Parallel Session)

 

 

Group 1: Participants from those countries with National NBS Programme (continued)

 

Group 2: Participants from those countries with no National NBS programme (continued)

 

 
1730 - 1800 Plenary discussion on results of the workshops Chairs: Jim Bonham, Gerard Loeber
1900 - 2200 Conference Dinner  
     
Wednesday March 11
0800 Registration open  
0900 - 1000 Session 9: Quality issues Chair Rose Maase
0900 - 0920 O28. Quality assurance and quality control program for first tier and second tier testing. Kostas Petritis (USA)
0920 - 0940 O29. Advances in Molecular technology for the follow up and second tier testing. Vasiliki Chini (Qatar)
0940 - 1000 O30. Storage and use of residual newborn screening specimens Rachel Knowles (UK)
1000 - 1030 Coffee Break  
1030 - 1200 Session 10: Miscellaneous Chair Gerard Loeber
1030 – 1045 O31. Newborn screening for six lysosomal diseases: current status of a  pilot study in Brazil Roberto Giugliani (Brazil)
1045 – 1055 O32. High incidence of congenital hypothyroidism in Pakistan calls for action: need of a national newborn screening program Hafsa Majid (Pakistan)
1055 – 1110 O33. A comprehensive evaluation of the Hellenic newborn screening: new people, new technologies, new possibilities Dimitrios Platis (Greece)
1110 – 1130 O34. PKU patients born before the era of population newborn screening: is it still possible to improve their life quality? Maria Gizewska (Poland)
1130 – 1145 O35. IT infrastructure for screening, diagnosis and long-term follow-up for newborn screening in Sweden Lene Sörensen (Sweden)
1145 – 1200 O36. The use of 2nd tier blood-spot metabolites by Tandem Mass Spectrometry (MS/MS) to reduce the false positive rate on routine Newborn Screening for Inborn Errors of Metabolism (IEM). Enzo Ranieri (Australia)
     
1215 - 1235 General Discussion and Wrap up Chair: Jim Bonham
1235 Closure Victor Skrinska
 
     

 

 

Poster presentations

P1. Combined effect of gestational age and birth weight on metabolites related to inherited metabolic diseases in neonates
Ling Wang, Fang Yi, Chengdu Newgenegle Clinical Laboratory, Clinical department, Chengdu, China, People’s Republic

P2. Should genetic markers be nominated for the new expanded NBS panel?
Adel Zeglam, Samira Tarhooni, Tripoli University Hospital, Pediatrics, Tripoli, Libya

P3. Newborn Screening for G6PD Deficiency and the Mutational Spectrum in Vietnam
Quoc Hai Luyen, Bionet Vietnam, Newborn screening center, Ha Noi, 10000, Vietnam

P4. 14 Years experience in expanding Newborn Screening using MSMS and confirmation positive results in KFSHRC ,Saudi Arabia
Mohamed S Alamoodi, KFSHRC, Genetic, Riyadh, Saudi Arabia

P5. Development of a HILIC-LC-MS analytical method to screen pyridoxine dependent epilepsy from dried blood spot
Sudheer Moorkoth, Elizabeth Mary Mathew, Leslie Lewis, Pragna Rao, Manipal College of Pharmaceutical Sciences, Pharmaceutical Quality Assurance, Manipal, India

P6. An innovative SMA screening method directly from dried blood spots
Charlotte Vandermeulen, Axel Giltay, Liselot Detemmerman, LaCAR MDx, Molecular diagnostic, 4102 Liège, Belgium

P7. Development and validation of a spatially multiplexed digital microfluidics platform to screen for Biotinidase deficiency and galactosemia
Sandeep Kalelkar, Candice Brannen, Jon Washburn, Hari Patel, Anirudh Ullal, Sally Chopra, David Billings, Daniel Mun, Baebies, Newborn Screening, Durham, United States

P8. Determination  of multplex enzyme assay activities in DBS samples using NeoLSD KIT and LC-MS/MS.
Najah Obeidat, Esraa Okour, Jordan university of science and technology, Princess Haya Biotechnology Center, Irbid-Jordan, Jordan

P9. Quantitation of glycosaminoglycans in amniotic fluid by liquid chromatography tandem mass spectrometry: a potential tool for the rapid prenatal identification of MPS in pregnancies at risk
Francyne Kubaski, Rejane G. Kessler, Andryele Z. Machado, Inamara S. Moraes, Fernanda Medeiros, Fernanda Bender, Maira G. Burin, Kristiane Michelin-Tirelli, Dafne D.G. Horovitz, Anelise Barth, Robert W. Mason, Shunji Tomatsu, Roberto Giugliani, UFRGS/HCPA/INGAMEP, PPGBM, Porto Alegre, Brazil

P10. Biochemical and molecular characterization of CTNS mutations in Tunisian patients with cystinosis
Rouaida Gafsi, Latifa Chkioua, Azza Dandana, Wael Bahia, Hela Boudabous, Maroua Nouiri Bouzaabia, Maissa Brahim, Neji Tebib, Khelifa Limem, Salima . Ferchichi, University of Monastir, Faculty of pharmacy, 5000 Monastir, Tunisia

P11. Profile of Mucopolysaccharidoses diagnosed at the Biochemistry laboratory in Farhat Hached Hospital – Sousse Tunisia
Wael Bahia, Azza Dandana, Zina Chamekh, Hela Boudabous, Maroua Nouiri Bouzaabia, Maissa Brahim, Neji Tebib, Khelifa Limem, Salima Ferchichi, Farhat HACHED Hospital, Laboratory of Clinical Biochemistry, Sousse, Tunisia

P12. The Metachromatic Leucodystrophy: Experience of laboratory of clinical Biochemistry In Farhat HACHED Hospital
Wael Bahia, Azza Dandana, Zina Chamekh, Hela Boudabous, Maroua Nouiri Bouzaabia, Maissa Brahim, Neji Tebib, Khelifa Limem, Salima Ferchichi, Farhat HACHED Hospital, Laboratory of Clinical Biochemistry, Sousse, Tunisia

P13. Clinical, biological and molecular profiles of Fabry disease in Tunisian families: A Case Report
Latifa Chkioua, Chaima Saheli, Hela Boudabous, Lamia Jaafoura, Salima Ferchichi, Neji Tebib, Sandrine Laradi, University of Monastir, Faculty of pharmacy, 5000 Monastir, Tunisia

P14. Gaucher disease in a Tunisian family
Azza Dandana, Wael Bahia, Zina Chamekh, Hela Boudabous, Maissa Brahim, Neji Tebib, Khelifa Limem, Salima Ferchichi, Farhat HACHED Hospital, Laboratory of Clinical Biochemistry, Sousse, Tunisia

P15. N370S (c.1226 A>G) mutation among Tunisian patients with Gaucher Disease
Azza Dandana, Wael Bahia1, Zina Chamekh, Hela Boudabous, Maroua Nouiri Bouzaabia, Maissa Brahim, Neji Tebib, Khelifa Limem, Salima Ferchichi, Farhat HACHED Hospital, Laboratory of Clinical Biochemistry, Sousse, Tunisia

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