Dr. Laura Baroncelli, PhD, Italian National Research Council (CNR) discusses the CCDS1 research she presented at SSIEM.

 In Congresses, Fabry Disease

Laura Baroncelli, PhD, has been a Researcher at the Neuroscience Institute of the Italian National Research Council (CNR) in Pisa since 2011. She received her PhD in Neurobiology at the Scuola Normale Superiore. The main focus of her work has been the study of cerebral plasticity during development and adulthood, and in animal models of neurodevelopmental and neurodegenerative disorders, using a multidisciplinary approach that comprised electrophysiological, biochemical, optical and behavioral techniques. We had the pleasure of interviewing Laura Baroncelli, PhD, Italian National Research Council (CNR), about the research in Cerebral Creatine Deficiency Syndrome-1 (CCDS1) presented at SSIEM. See below for the discussion and visit the Rare 2 Aware blog again for more information from leaders in the rare disease space. Q) Can you summarise the research you are presenting at SSIEM 2016? A) Cerebral creatine deficiency syndrome-1 (CCDS1) is still an untreatable metabolic disorder that can be very debilitating for patients and a burden for caregivers. We have generated a new murine model of CCSD1 (a creatine transporter (CrT) mutant) and we have discovered alterations of cellular and molecular mechanisms that play a pivotal role in the generation of the CCDS1 neurological phenotype. This knowledge will open up the important possibility of designing intervention strategies aimed at overcoming CCDS1 brain alterations and the CrT murine model will provide an important tool for the preclinical testing of these. Q) What are the key scientific or clinical takeaways from the research you are presenting? A)

  1. A progressive worsening of cognitive symptoms was detectable in CrT mutant mice, suggesting that age is a key feature of creatine deficiency disease.
  2. We identified novel targets to design intervention strategies aimed at overcoming CCDS1 brain alterations.

Q) What are 2 or 3 hot topics in the field of lysosomal storage diseases (LSDs) you are interested in hearing more about at this year’s congress? A) Cellular trafficking, ‘omic studies, and nanoparticle-driven drug delivery. Q) In your opinion, are there advantages of ‘omic techniques over single assays in diagnosis? A) Yes, ‘omic techniques will allow us to investigate a full panel of possible diseases instead of a single hypothesis. Q) What is your view on the importance of newborn screening? A) Since an early diagnosis is fundamental for treating children with metabolic diseases and a prolonged metabolic impairment can have a very detrimental impact on the development of neuronal cells, newborn screening would be very helpful. Q) Which advances in disease management in your field might be applicable to other rare metabolic diseases? A) CrT animals may serve as a useful model for exploring the mechanisms of age-related damage in the brain. A large number of neurodevelopmental and neurological disorders, including Down syndrome, Batten disease, progranulin deficiency, brain iron dysregulation, have been associated with early brain ageing. Thus, a better understanding of factors that accelerate age-related deterioration of cognitive performance is critical, both for improving the likelihood for successful ageing and for revealing pathological changes of translational value. Disclaimer: The views expressed in this post do not necessarily reflect the views of Shire INTSP/C-ANPROM/RDBU/16/0029(1) September 2016 The post Dr. Laura Baroncelli, PhD, Italian National Research Council (CNR) discusses the CCDS1 research she presented at SSIEM. appeared first on Rare2Aware.

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