The knowledge base

  • Dr. Carsten Bönnemann on MDC1A clinical trial readiness

    Dr. Carsten Bönnemann and Dr. Reghan Foley are running a natural history study for infants aged 0-5 years of age. This study is part of a wider effort to gain a better understanding of MDC1A and become ready for future clinical trials. Dr. Carsten Bönnemann and Dr. Reghan Foley are working on collecting data on…

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  • Get to know the work of respiratory therapist Ruud van der Wel

    As a respiratory therapist and an innovator, Ruud van der Wel has been able to develop amazing tools that can transform respiratory therapy into interactive games for children with MDC1A / Lama2 CMD.  Ruud van der Wel is a Dutch respiratory therapist at Rijndam Rehabilitation Institute that has been working with children with disabilities for…

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  • Dr. Avencia Sanchez-Mejías’ ex-vivo therapeutic approach to MDC1A

    Dr. Avencia Sanchez-Mejías has been investigating how haematopoietic stem cells from MDC1A patients’ bone marrow, can be genetically corrected to potentially improve quality of life. Dr. Avencia Sanchez-Mejías and her research team at the University of Pompeu Fabra in Barcelona have carried out a number of investigations focused on an ex-vivo therapeutic approach to MDC1A.…

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