Programme
Programme February 20
Please click here for pdf-format
|
Please click here for all abstracts |
||
| 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 | Chairs: Gerard Loeber/Tawfeq Ben Omran |
| 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 | Chairs: Issam Khneisser/Heba Khafagy |
| 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, see invitation | |
| 1345 - 1555 | Session 4: Various conditions | Chairs: Victor Skrinska/Enzo Ranieri |
| 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 | Chairs: Anthi Drousiotou/Issam Khneisser |
| 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 | Chairs: Kate Hall/Amal Saadallah |
| 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 | Chairs: Jim Bonham/Rodney Howell |
| 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 | Chairs: Rose Maase/Jamal Golbahar |
| 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 - 1150 | Session 10: Miscellaneous | Chairs: Gerard Loeber/Rodney Howell |
| 1030 – 1040 | O32. High incidence of congenital hypothyroidism in Pakistan calls for action: need of a national newborn screening program | Hafsa Majid (Pakistan) |
| 1040 – 1055 | O33. A comprehensive evaluation of the Hellenic newborn screening: new people, new technologies, new possibilities | Dimitrios Platis (Greece) |
| 1055 – 1115 | O34. PKU patients born before the era of population newborn screening: is it still possible to improve their life quality? | Maria Gizewska (Poland) |
| 1115 – 1130 | O35. IT infrastructure for screening, diagnosis and long-term follow-up for newborn screening in Sweden | Lene Sörensen (Sweden) |
| 1130 – 1150 | 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) |
| 1150 - 1215 | General Discussion and Wrap up | Chair: Jim Bonham |
| 1215 | 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