Call for papers

Abstract

I am pleased to inform you that Nutrition Metabolism and Cardiovascular Diseases (NMCD) is issuing a call for papers dedicated to rare metabolic diseases. We believe that this initiative will contribute to satisfy the growing interest in the medical community towards rare metabolic diseases and contribute to a better understanding of the latter. In a world where prevalent multifactorial diseases have already been extensively investigated, rare diseases represent the last frontier of medical knowledge. Rare metabolic diseases are a challenge for patients, their families, clinicians and specialists. The lack of knowledge in this field has caused an under and delayed diagnosis. To date treatments are available for many rare metabolic diseases that can, to some extent, modify the natural history of these diseases. In addition, new interactions are emerging between rare metabolic conditions and common syndromes: the link between lysosomal storage disease and neurodegenerative diseases, such as Parkinson's and Alzheimer's is just one example. Drug companies are allocating increasing resources to the development of innovative therapies to treat genetic metabolic defects, and pioneering therapies have already been experimented on “rare” patients, e.g., genetic microsurgery based on gene editing “in-situ” or the delivery of virus-transported engineered genes. The field of rare metabolic diseases is ahead of its time, and we are now experimenting drugs that will be found over the counter in the pharmacy decades from now.We thus invite all the scientists working in the fields of metabolic rare diseases to submit their work, including paradigmatic case reports, assuring them of the qualified and professional approach that has always been a hallmark of NMCD. The rare metabolic diseases community will find in NMCD a forum in which to share novel ideas, and we invite the readers to follow us in this exciting journey. I am pleased to inform you that Nutrition Metabolism and Cardiovascular Diseases (NMCD) is issuing a call for papers dedicated to rare metabolic diseases. We believe that this initiative will contribute to satisfy the growing interest in the medical community towards rare metabolic diseases and contribute to a better understanding of the latter. In a world where prevalent multifactorial diseases have already been extensively investigated, rare diseases represent the last frontier of medical knowledge. Rare metabolic diseases are a challenge for patients, their families, clinicians and specialists. The lack of knowledge in this field has caused an under and delayed diagnosis. To date treatments are available for many rare metabolic diseases that can, to some extent, modify the natural history of these diseases. In addition, new interactions are emerging between rare metabolic conditions and common syndromes: the link between lysosomal storage disease and neurodegenerative diseases, such as Parkinson's and Alzheimer's is just one example. Drug companies are allocating increasing resources to the development of innovative therapies to treat genetic metabolic defects, and pioneering therapies have already been experimented on “rare” patients, e.g., genetic microsurgery based on gene editing “in-situ” or the delivery of virus-transported engineered genes. The field of rare metabolic diseases is ahead of its time, and we are now experimenting drugs that will be found over the counter in the pharmacy decades from now. We thus invite all the scientists working in the fields of metabolic rare diseases to submit their work, including paradigmatic case reports, assuring them of the qualified and professional approach that has always been a hallmark of NMCD. The rare metabolic diseases community will find in NMCD a forum in which to share novel ideas, and we invite the readers to follow us in this exciting journey.