The 1st BCDD Conference
This important meeting discuss how novel technologies and research approaches for drug discovery can be used for the future benefit of patients with rare diseases
8:30-9:00 - Registration and Light Breakfast
9:00-9:30 - Introductory Remarks:
Miguel Weil, Conference organizer
Yoav Henis, TAU Vice President for Research and Development
Ehud Gazit, BCDD Academic Director
Hila Krupsky, “ADI” Association Duchenne Israel
Session 1: New perspectives and advances in the clinic
Chair: Prof Miguel Weil
09:30-10:10 - Plenary lecture: Arnold Munnich ,Hospital Necker Enfants-Malades and University Paris Descartes, Paris, France.
Title: "Advances in genetics: what are the benefits for patients?"
10:10-10:30 - Orly Elpeleg (HUJI, Hadassah)
Title: "The Introduction of Exome Analysis into Paediatrics".
10:30-10:55 - Annick Raas-Rothchild (TAU, Sheba)
Title: "From Certainty to Uncertainty: Challenges in the care of patients with Rare Diseases"
10:55-11:20 - Eli Sprecher (TAU, TASMC)
Title:"Clinical implications of genetic discoveries in skin diseases"
11:20-11:45 - Coffee Break
Session 2: Approaches in translational medicine and research
Chair: Prof Ehud Gazit
11:45-12:10 - Doron M Behar (Gene by Gene,Carmel Medical Center)
Title: "Merging a comprehensive preconception carrier screening panel and chromosomal microarray analysis"
12:10-12:35 - Neta Zach (TEVA)
Title: "Drug discovery for rare diseases- bridging the gap between academia and industry"
12:35-13:00 - Batsheva Kerem (HUJI)
Title: "Restoration of CFTR function by Antisense Oligonucleotide splicing modulation"
13:00-13:25 - Miguel Weil (TAU)
Title: "Novel approach for personalized medicine of rare diseases"
13:30-14:30 - Lunch
Session 3: Metabolic and Storage diseases
Chair: Prof Annick Raas-Rothchild
14:30-14:55 - Ehud Gazit(TAU)
Title: "Metabolite amyloids: a new paradigm for inborn error of metabolism disorders"
14:55-15:20 - Or Kakhlon (Hadassah)
Title: "Combining High Throughput Screening with Image-Based Phenotyping advances drug discovery: Adult Polyglucosan Body Disease as a paradigm"
15:20-15:45 - Toni Futerman (WIS)
Title: "Pathological pathways in neuronal forms of Gaucher disease"
15:45-16:10 Ann-Saada Reich (Hadassah)
Title: "The use of patient's fibroblasts for the evaluation of small molecules on mitochondrial diseases"
16:10-16:35 - Rotem Karni(HUJI)
Title: "Inhibition of nonsense mediated mRNA decay to improve stop codon read-through therapy"
16:35-17:00 Coffee Break
Session 4:Neurodegenerative and Neuromuscular diseases
Chair: Prof Daniel Segal
17:00-17:25 - Yosef Gruenbaum (HUJI)
Title: “Testing the mechanical model of human laminopathies"
17:25-17:50 - Adrian Israelson (BGU)
Title: "Macrophage Migration Inhibitory Factor Reduced Misfolded SOD1 Accumulation and Toxicity in a Mouse Model of ALS"
17:50-18:15 - Gerardo Lederkremer (TAU)
Title: "Small molecule ER stress inhibitors for Huntington’s disease"
18:15-18:30 - Eran Perlson (TAU)
Title: "Spatial Alterations in Semaphorin3A Regulation by miR126 Trigger Motor Neuron Degeneration in ALS"
18:30-18:55 - Gil Ast (TAU)
Title: "Phosphatidylserine ameliorates neurodegenerative symptoms and enhances axonal transport in a mouse model of Familial Dysautonomia"
18:55-19:00 Closing Remarks
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