CTNNB1 Foundation

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Urban's story after gene therapy

Urban's story after gene therapy CTNNB1 Foundation

4.8K views - 3 months ago

Overview of therapeutic approaches for CTNNB1 Syndrome - Dr. Ana Gonzalez Hernandez

Overview of therapeutic approaches for CTNNB1 Syndrome - Dr. Ana Gonzalez Hernandez CTNNB1 Foundation

83 views - 8 months ago

Manufacturing for clinical readiness: GMP and quality control - Cristina Martin Quintin (Viralgen)

Manufacturing for clinical readiness: GMP and quality control - Cristina Martin Quintin (Viralgen) CTNNB1 Foundation

43 views - 8 months ago

GAIN trial: A phase I/II open-label clinical trial in patients with CTNNB1 Syndrome

GAIN trial: A phase I/II open-label clinical trial in patients with CTNNB1 Syndrome CTNNB1 Foundation

270 views - 8 months ago

Navigating regulatory complexities: Health authority submissions - Dr. Elise Destree

Navigating regulatory complexities: Health authority submissions - Dr. Elise Destree CTNNB1 Foundation

22 views - 8 months ago

Cross-border access to paediatric clinical trials in Europe: language inclusion

Cross-border access to paediatric clinical trials in Europe: language inclusion CTNNB1 Foundation

12 views - 8 months ago

Selecting the optimal route of gene therapy delivery - Dr. Peter Spazzapan, PhD (UMC Ljubljana)

Selecting the optimal route of gene therapy delivery - Dr. Peter Spazzapan, PhD (UMC Ljubljana) CTNNB1 Foundation

68 views - 8 months ago

Understanding safety and toxicology in small and large animals - Dr. Duško Lainšček

Understanding safety and toxicology in small and large animals - Dr. Duško Lainšček CTNNB1 Foundation

32 views - 8 months ago

What do pre-clinical models tell us about vector distribution? - Dr. Ruud Bueters

What do pre-clinical models tell us about vector distribution? - Dr. Ruud Bueters CTNNB1 Foundation

29 views - 8 months ago

Challenges and experiences of families living with CTNNB1 syndrome - Tina Nikolić

Challenges and experiences of families living with CTNNB1 syndrome - Tina Nikolić CTNNB1 Foundation

81 views - 8 months ago

Assessing AAV-mediated gene therapy in preclinical models of CTNNB1 syndrome - Dr. Andrea Iturralde

Assessing AAV-mediated gene therapy in preclinical models of CTNNB1 syndrome - Dr. Andrea Iturralde CTNNB1 Foundation

52 views - 8 months ago

Gene therapy today: turning science into cures - Dr. Leszek Lisowski

Gene therapy today: turning science into cures - Dr. Leszek Lisowski CTNNB1 Foundation

155 views - 8 months ago

Consequences of pathogenic mutations on b-catenin conformational properties - Dr. Sonia Bañuelos

Consequences of pathogenic mutations on b-catenin conformational properties - Dr. Sonia Bañuelos CTNNB1 Foundation

32 views - 8 months ago

Genotype-phenotype characterization and functional reconstitution of pathological β-catenin variants

Genotype-phenotype characterization and functional reconstitution of pathological β-catenin variants CTNNB1 Foundation

85 views - 8 months ago

Clinical, psychological and neuropsychologicalcharacterisation of 25 CTNNB1 syndrome patients

Clinical, psychological and neuropsychologicalcharacterisation of 25 CTNNB1 syndrome patients CTNNB1 Foundation

42 views - 8 months ago

Genotype-phenotype correlations in CTNNB1 neurodevelopmental syndrome - Dr. Nina Žakelj

Genotype-phenotype correlations in CTNNB1 neurodevelopmental syndrome - Dr. Nina Žakelj CTNNB1 Foundation

92 views - 8 months ago

From fear to a new life: Our experience with brain gene therapy for AADC deficiency

From fear to a new life: Our experience with brain gene therapy for AADC deficiency CTNNB1 Foundation

101 views - 8 months ago

CTNNB1 Foundation: Our dreams become reality – counting months to a hope! - Dr. Špela Miroševič

CTNNB1 Foundation: Our dreams become reality – counting months to a hope! - Dr. Špela Miroševič CTNNB1 Foundation

93 views - 8 months ago

3rd International CTNNB1 Syndrome Conference - Opening Ceremony

3rd International CTNNB1 Syndrome Conference - Opening Ceremony CTNNB1 Foundation

108 views - 8 months ago

CRISPR-based Prime edit strategy for correction of CTNNB1 mutations - Dr. Vida Forstnerič

CRISPR-based Prime edit strategy for correction of CTNNB1 mutations - Dr. Vida Forstnerič CTNNB1 Foundation

40 views - 8 months ago

Update on small molecules developed by the Italian Institute of Technology - Dr. Angelo Serani

Update on small molecules developed by the Italian Institute of Technology - Dr. Angelo Serani CTNNB1 Foundation

35 views - 8 months ago

Small molecule efficacious therapeutic treatment for CTNNB1 syndrome - Dr. Michele Jacob

Small molecule efficacious therapeutic treatment for CTNNB1 syndrome - Dr. Michele Jacob CTNNB1 Foundation

367 views - 8 months ago

Closing Ceremony

Closing Ceremony CTNNB1 Foundation

21 views - 8 months ago

Help us deliver hope: The final push for CTNNB1 gene therapy

Help us deliver hope: The final push for CTNNB1 gene therapy CTNNB1 Foundation

632 views - 8 months ago

SYSNAV Healthcare supports CTNNB1 Foundation: Revolutionizing patient care with Syde technology

SYSNAV Healthcare supports CTNNB1 Foundation: Revolutionizing patient care with Syde technology CTNNB1 Foundation

353 views - 1 year ago

European Prize for Women Innovators: Špela Miroševič

European Prize for Women Innovators: Špela Miroševič CTNNB1 Foundation

340 views - 1 year ago

Mednarodna konferenca sindroma CTNNB1, junij 2024

Mednarodna konferenca sindroma CTNNB1, junij 2024 CTNNB1 Foundation

129 views - 1 year ago

2nd International CTNNB1 Syndrome Conference - Opening Cerimony

2nd International CTNNB1 Syndrome Conference - Opening Cerimony CTNNB1 Foundation

152 views - 1 year ago

The Discovery of CTNNB1 Syndrome - Dr. Joep De Ligt

The Discovery of CTNNB1 Syndrome - Dr. Joep De Ligt CTNNB1 Foundation

198 views - 1 year ago

Accelerating Patient Access to Biomedical Advancements in Slovenia - Dr. Mojca Benčina

Accelerating Patient Access to Biomedical Advancements in Slovenia - Dr. Mojca Benčina CTNNB1 Foundation

91 views - 1 year ago

CTNNB1 Foundation: A Path to Hope for Children with CTNNB1 Syndrome - Dr. Spela Mirosevic

CTNNB1 Foundation: A Path to Hope for Children with CTNNB1 Syndrome - Dr. Spela Mirosevic CTNNB1 Foundation

428 views - 1 year ago

Introduction to Non-clinical Safety Testing for CTNNB1 Gene Therapy - R. Bueters

Introduction to Non-clinical Safety Testing for CTNNB1 Gene Therapy - R. Bueters CTNNB1 Foundation

49 views - 1 year ago

AAV-mediated gene therapy for CTNNB1 Syndrome - Dr. Leszek Lisowski and Dr. Andrea Perez Iturralde

AAV-mediated gene therapy for CTNNB1 Syndrome - Dr. Leszek Lisowski and Dr. Andrea Perez Iturralde CTNNB1 Foundation

377 views - 1 year ago

Small Molecule Efficacious Therapeutic Treatment for CTNNB1 Syndrome - Dr. Michele Jacob

Small Molecule Efficacious Therapeutic Treatment for CTNNB1 Syndrome - Dr. Michele Jacob CTNNB1 Foundation

94 views - 1 year ago

Presenting 80 UK Patients with Pathogenic CTNNB1 Variants - Taisiia Sazonova

Presenting 80 UK Patients with Pathogenic CTNNB1 Variants - Taisiia Sazonova CTNNB1 Foundation

68 views - 1 year ago

Conference Conclusion & Gratitude with Marta Santiago, Dr. Damjan Osredkar and Dr Špela Miroševič

Conference Conclusion & Gratitude with Marta Santiago, Dr. Damjan Osredkar and Dr Špela Miroševič CTNNB1 Foundation

120 views - 1 year ago

Clinically Relevant Endpoints: Continuous Movement Measure in Real Life - Dr. Laurent Servais

Clinically Relevant Endpoints: Continuous Movement Measure in Real Life - Dr. Laurent Servais CTNNB1 Foundation

67 views - 1 year ago

From Diagnosis to Starting a Gene Therapy Clinical Trial for children with AGU, Julia Taravella

From Diagnosis to Starting a Gene Therapy Clinical Trial for children with AGU, Julia Taravella CTNNB1 Foundation

104 views - 1 year ago

The Journey of CTNNB1 PAOs Leading Therapy Development - Emily Amerson and Dr Ana Gonzalez Hernandez

The Journey of CTNNB1 PAOs Leading Therapy Development - Emily Amerson and Dr Ana Gonzalez Hernandez CTNNB1 Foundation

39 views - 1 year ago

Overview of Routes of Administration in Gene Therapy with a Focus on ICV - Thomas Carrol

Overview of Routes of Administration in Gene Therapy with a Focus on ICV - Thomas Carrol CTNNB1 Foundation

195 views - 1 year ago

Co-creating Hope in the Community of Children and Families Affected by CTNNB1 - Dr David Gosar

Co-creating Hope in the Community of Children and Families Affected by CTNNB1 - Dr David Gosar CTNNB1 Foundation

42 views - 1 year ago

Breaking Barriers: Promoting Communication and Managing Behaviours - Megan Ryder Stanley

Breaking Barriers: Promoting Communication and Managing Behaviours - Megan Ryder Stanley CTNNB1 Foundation

55 views - 1 year ago

Congenital Heart Defects in CTNNB1 Syndrome: Raising Clinical Awareness - Dr. Lorenzo Sinibaldi

Congenital Heart Defects in CTNNB1 Syndrome: Raising Clinical Awareness - Dr. Lorenzo Sinibaldi CTNNB1 Foundation

117 views - 1 year ago

CTNNB1-Related Movement Disorders: A Complex But Recognizable Movement Disorders Unit - Bambino Gesù

CTNNB1-Related Movement Disorders: A Complex But Recognizable Movement Disorders Unit - Bambino Gesù CTNNB1 Foundation

128 views - 1 year ago

Challenges of transitioning to adolescent and adulthood - Dr. Laura de Graaff

Challenges of transitioning to adolescent and adulthood - Dr. Laura de Graaff CTNNB1 Foundation

41 views - 1 year ago

Understanding Epilepsy Cases in CTNNB1 Syndrome: Insights and Implications - Shivang Khandelwal

Understanding Epilepsy Cases in CTNNB1 Syndrome: Insights and Implications - Shivang Khandelwal CTNNB1 Foundation

74 views - 1 year ago

Understanding the Cellular Basis of Corpus Callosum Crossing Defect in CTNNB1 - Dr Arpan Parichha

Understanding the Cellular Basis of Corpus Callosum Crossing Defect in CTNNB1 - Dr Arpan Parichha CTNNB1 Foundation

136 views - 1 year ago

The “Dragonfly Study”: CTNNB1 Syndrome International Natural History Study - Dr. Damjan Osredkar

The “Dragonfly Study”: CTNNB1 Syndrome International Natural History Study - Dr. Damjan Osredkar CTNNB1 Foundation

92 views - 1 year ago

Fostering Effective Communication Skills in Your Child – Neurobiological Therapy - Magda Malinowska

Fostering Effective Communication Skills in Your Child – Neurobiological Therapy - Magda Malinowska CTNNB1 Foundation

22 views - 1 year ago

Safety Measures in Preclinical Development: Example from CTNNB1 Study - Dr. Jan Prochazka

Safety Measures in Preclinical Development: Example from CTNNB1 Study - Dr. Jan Prochazka CTNNB1 Foundation

85 views - 1 year ago

Meeting the Challenge of Rare Disease in the Family: 25 Years of Lessons Learned - Dr Al Freedman

Meeting the Challenge of Rare Disease in the Family: 25 Years of Lessons Learned - Dr Al Freedman CTNNB1 Foundation

43 views - 1 year ago

What our Genotype-Phenotype Study Taught us About Rare Symptoms in CTNNB1 - Dr. Nina Žakelj

What our Genotype-Phenotype Study Taught us About Rare Symptoms in CTNNB1 - Dr. Nina Žakelj CTNNB1 Foundation

359 views - 1 year ago

RNA-centred Strategies for Upregulation of β-catenin in CTNNB1 - Dr Petra Sušjan and Matea Maruna

RNA-centred Strategies for Upregulation of β-catenin in CTNNB1 - Dr Petra Sušjan and Matea Maruna CTNNB1 Foundation

56 views - 1 year ago

Genetics of CTNNB1 in the Context of Other Neurodevelopmental Disorders - Stephan J. Sanders

Genetics of CTNNB1 in the Context of Other Neurodevelopmental Disorders - Stephan J. Sanders CTNNB1 Foundation

126 views - 1 year ago

The Value of Mindfulness Practice for Patients with Rare Disease - Dr Špela Miroševič

The Value of Mindfulness Practice for Patients with Rare Disease - Dr Špela Miroševič CTNNB1 Foundation

15 views - 1 year ago

Tethered Cord with Surgical Detethering, an Under-Recognised Comorbidity - Dr. Sandrine Cornaz Buros

Tethered Cord with Surgical Detethering, an Under-Recognised Comorbidity - Dr. Sandrine Cornaz Buros CTNNB1 Foundation

461 views - 1 year ago

Evaluation of the Efficacy of CTNNB1 AAV9 Therapy on a Mouse Model - Dr. Duško Lainšček

Evaluation of the Efficacy of CTNNB1 AAV9 Therapy on a Mouse Model - Dr. Duško Lainšček CTNNB1 Foundation

141 views - 1 year ago

Managing Expectations with Gene Therapy - Dr. Laurent Servais

Managing Expectations with Gene Therapy - Dr. Laurent Servais CTNNB1 Foundation

153 views - 1 year ago

CTNNB1 Italy: A Pilot Project - Dr Valter Tucci

CTNNB1 Italy: A Pilot Project - Dr Valter Tucci CTNNB1 Foundation

63 views - 1 year ago

The Manufacture of a Hope: Projected Timelines - Cristina Martín, Project Manager Viralgen

The Manufacture of a Hope: Projected Timelines - Cristina Martín, Project Manager Viralgen CTNNB1 Foundation

50 views - 1 year ago