About PolandProgram
ATAXIA TELANGIECTASIA CLINICAL RESEARCH CONFERENCE, WARSAW, POLAND, 2016
You can download Program in PDF here.
Thursday 6 October
12:00-13:00 Lunch
13:00 WELCOME
Barbara Pietrucha and William Davis
13.10 Welcome from Scientific Director of Childern’s Memorial Health Institute
Katarzyna Kotulska-Jóźwiak
13:15 Introductory From Family Living with A-T
Jerzy Nowak, the Polish Razem Zdążymy Foundation for A-T Patients
13:30 SESSION 1. NEUROLOGY
Chair: Andrea Nissenkorn, Israel
CLINICAL
13:35 Natural History of A-T Study
William Whitehouse/Salma Ali, UK
13:50 Static/Progressive Impairment and Dysfunction in A-T
Tom Crawford, USA
14:05 Initial results from the Childhood A-T Neuroimaging Assessment Project (CATNAP)
Robert Dineen, UK
BASIC SCIENCE: RESEARCH TOWARD THE CLINIC
14:20 Impact of ATM Deficiency on Neural Stem Cells
Penny Jeggo, UK
14:30 DNA Damage Responses and Transcriptional Regulation in iPSC-Derived Neurons from A-T Patients
Domenico Delia, Italy
14:40 The Role of ATM in Brain Homeostasis and Functionality
Ari Barzilai, Israel
14:50 PANEL DISCUSSION
Chair as Moderator
15:30-15:50 Break
15:50 SESSION 2. IMMUNOLOGY
Chair: Asbjorg Stray-Pedersen, Norway
CLINICAL
15:55 Ataxia Telangiectasia: Immunodeficiency and Survival
Corry Weemaes, The Netherlands
16:10 Antibody Deficiency in Ataxia-Telangectasia
Isabella Quinti, Italy
16:25 The Differences of T and B Cell Maturation in A-T Patients On/Without Immunoglobulin Supplementation
Barbara Piątosa/Barbara Pietrucha, Poland
16:40 Inflammatory Cytokines in A-T
Howard Lederman, USA
16:55 DNA Double-Strand Break Repair – Common Mechanism with Multiple Proteins Involved: Similarities and Differences in Clinical and Immunological
Phenotype of Patients with Mutations in Artemis, ATM, NBN, and BLM
Barbara Piątosa, Poland
17:10 PANEL DISCUSSION
Chair as Moderator
17:50-18:35 KEYNOTE PRESENTATION
Keynote Speaker: Richard Gatti, US
Developing SMRT Drugs for Treating Nonsense Mutations: A New Model, Single Drugs for Groups of Diseases
19:30 Dinner
Friday 7 October
8:30 SESSION 3. NEXT-GEN A-T RESEARCH
Chair: Brad Margus, USA
8:35 Ataxia Telangiectasia and Genomic Science
Malcolm Taylor, UK
8:50 New Born Screening with TRECS
Asbjorg Stray-Pedersen, Norway
9:05 Applying Big Data Approaches to A-T
Brad Margus, USA
9:20 PANEL DISCUSSION
Chair as Moderator
10:00-10:20 Break
10:20 SESSION 4. METABOLIC AND MULTI-SYSTEMIC PROBLEMS
Chair: Howard Lederman, USA
CLINICAL
10:25 A-T in Older Patients
Howard Lederman, USA
10:40 Premature Aging in Patients with Ataxia Telangiectasia:
Is It Possible to Find New Surrogate Markers of Disease Progression?
Stefan Zielen, Germany
10:55 Metabolic syndrome and liver involvement in ataxia-telangiectasia
Andrea Nissenkorn, Israel
11:10 PANEL DISCUSSION
Chair as Moderator
12:00-13:30 Lunch
13:30 SESSION 5. RESPIRATORY
Chair: Jayesh Bhatt, UK
CLINICAL
13:35 Multidisciplinary Respiratory Management of A-T: An Update
Jayesh Bhatt, UK
13:50 Swallowing Incoordination and Management
Maureen Lefton-Greif, US
14:05 Lung Disease Assessment in Ataxia-Telangiectasia with Magnetic Resonance Imaging
Goffredo Serra, Italy
14:20 IMAGIN-AT – Advanced Imaging and Physiology Respiratory Endpoints for Clinical Trials in Ataxia-Telangiectasia
Andrew Prayle, UK
14:35 Role of Oxidative Stress in Pulmonary Disease in Ataxia-Telangiectasia
Martin Lavin, AU
BASIC SCIENCE: RESEARCH TOWARD THE CLINIC
14:50 Pulmonary Inflammation and Fibrosis in the Atm-Deficient Mouse Model
Ralf Schubert, Germany
15:00 PANEL DISCUSSION
Chair as Moderator
15:45-16:20 Break
16:20 SESSSION 6. EMERGING TREATMENTS
Chair: Richard Gatti, USA
CLINICAL
16:25-17:10 ERYDEX STUDY UPDATE
Speaker: Antonio Ferrari, Italy
A Multi-center, Randomized, Double-blind, Placebo controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on
Neurological Symptoms in Patients with Ataxia Telangiectasia (ATTeST)
17:10 RBCs as Circulating Carriers for the Release of Dexamethasone in the Treatment of AT
Mauro Magnani
17:25 New Aspects on the Steroid Treatment in Patients Affected with Ataxia-Teleangiectasia
Claudio Pignata, Italy
17:40 Treatment with Intra-Erythrocyte Dexamethasone Sodium Phosphate in AT-patients
Roberto Micheli, Italy
17:55 – 18.35 PANEL DISCUSSION
Chair as Moderator
19:30 Dinner and Entertainment
Saturday 8 October
8:30 SESSION 7. ONCOLOGY
Chair: Krzysztof Kałwak, Poland
CLINICAL
8:35-9:05 CLINICAL ONCOLOGY KEYNOTE
Keynote Speaker: John (Torrey) Sandlund, USA
Cancer Risk in AT Patients, Cancer Treatment Approaches, Guidelines and Future Directions
9:05 New Developments and Initiatives in Treatment of Hematological Malignancies in Patients with Ataxia Telangiectasia
Jan Loeffen, The Netherlands
9:20 Three Cases of Allogenic Stem Cell Transplantation in A-T – Single Centre Experience
Marek Ussowicz, Poland
9:35 Allogeneic Haematopoietic Stem Cell Transplantation in Patients with DNA Repair Defects Other Than Ataxia-Teleangiectasia Syndrome
Krzysztof Kałwak, Poland
9:50 ATM Heterozygote Risks in Cancer
Thilo Dӧrk, Germany
10:05 ATM and The Risk for Contralateral Breast Cancer
Pat Concannon, USA
BASIC SCIENCE: RESEARCH TOWARD THE CLINIC
10:20 ATM Deficient Phenotype in Tumour Cells – Possibilities for Targeted Treatment
Tanya Stankovic, UK
10:30 PANEL DISCUSSION
Chair as Moderator
11:10-11:30 Break
11:30 SESSION 8. BASIC SCIENCE AND PRESENTATION FROM POSTERS
Chair: Tej Pandita, USA
11:35 Longevity in classical and variant Ataxia- Teleangectasia: a genotype-fenotype association?
Nienke van Os
11:45 Pluripotent Stem Cells and DNA Damage Response to Ionizing Radiation
Tej Pandita, USA
11:55 An Integrated ATR, ATM and mTOR-Mechanical Network Controlling Nuclear Plasticity
Marco Foiani, Italy
12:05 The relationship between patient perception and swallow function in patients with Ataxia-Telangiectasia. A pilot study.
Corinne Mossey-Gaston, UK
12:15 Variant Ataxia Telangiectasia: Clinical and genetic features in 37 adult patients attending the UK national service.
Katherine Schon, UK
12:25 Antioxidant/oxidant status in patients with with Ataxia-telangiectasia
Mateusz Maciejczyk, Poland
12:35 Risk of atherosclerosis and diabetes in patients with ataxia telangiectasia.
Beatriz T Costa-Carvalho, Brasil
12:45 The effect of home respiratory physiotherapy in A-T patients
Ifat Sarouk, Israel
12:55-13:45 Lunch
13:45 SESSION 9. A DISCUSSION OF UNUSUAL CASES
Chair: Luciana Chessa, Italy
13:50 Classification of A-T Patients by Genotype and Phenotype: How Many Unusual Cases?
Luciana Chessa, Italy
14:05 PRESENTATION OF CASES AND DISCUSSION (10 min for each case)
Chair as Moderator
14:15 Cutaneous granulomas in patients with Nijmegen Breakage Syndrome (NBS) and Ataxia-telangiectasia (AT) – diagnostic and treatment challenge
Edyta Heropolitańska-Pliszka, Poland
14:25 Coexistence of A-T and Allgrove syndrome in 6- year- old boy.
Małgorzata Skomska-Pawliszak, Poland
TBD
14:35 Immunotherapy responsive neurological decline and spontaneous intracranial hypotension in a patient with classical Ataxia Telangectasia
Anke E Hensiek
14:45 Facial disfiguring cutaneous granuloma resistant to all available therapies
Kate Sinclair, AU
TBD
16:00 SESSION 10. THE WAY FORWARD
Cynthia Rothblum-Oviatt, USA
Barbara Pietrucha, Poland
William Davis, UK
16:30 Adjourn