This page aims to give the reader a good understanding of where cystinosis research is, at the moment. It complies research papers from the last 7 years (2013-1/7/2020). The research papers are organized into areas of research. The principal investor, location and funding information are included as well as a short summer of the research paper/s. Each section includes a quick illustrated introduction into each area of research.
Introduction to the Cell
The cell is a small membrane bound structure that makes up the functional unit or organism. The diagram below shows the basic structure of a cell, however most cell are specialized to the tissue they are found in, thus a cell shape and content is different from a different cell somewhere else.
Bone Complications of Cystinosis Research
Despite management of cystine crystal development in cystinosis patients, severe bone complications still develop. These bone complications are unique to cystinosis patients and are not found in outer chronic kidney diseases ruling out loss of minerals to urine as the main cause. This new type of bone disease is known as “cystinosis metabolic bone disease” and is being investigated by a number of groups.
Intrinsic Bone Defects in Cystinotic Mice. Am J Pathol, 2019
Intrinsic Bone Defects in Cystinotic Mice. Am J Pathol, 2019
Intrinsic Bone Defects in Cystinotic Mice. Am J Pathol, 2019
Grants/Funding: Cystinosis Research Foundation and Italian Ministry of Healthy Ricerca Corrente
Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient. J Transl Med, 2015
Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient. J Transl Med, 2015
Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient. J Transl Med, 2015
Grants/Funding: Bando Giovani Ricercatori, AIRC, HO2020 project “RETHRIM” and Regione Lazio