Ontology highlight
ABSTRACT:
SUBMITTER: Boycott KM
PROVIDER: S-EPMC7010971 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Boycott Kym M KM Campeau Philippe M PM Howley Heather E HE Pavlidis Paul P Rogic Sanja S Oriel Christine C Berman Jason N JN Hamilton Robert M RM Hicks Geoffrey G GG Lipshitz Howard D HD Masson Jean-Yves JY Shoubridge Eric A EA Junker Anne A Leroux Michel R MR McMaster Christopher R CR Michaud Jaques L JL Turvey Stuart E SE Dyment David D Innes A Micheil AM van Karnebeek Clara D CD Lehman Anna A Cohn Ronald D RD MacDonald Ian M IM Rachubinski Richard A RA Frosk Patrick P Vandersteen Anthony A Wozniak Richard W RW Pena Izabella A IA Wen Xiao-Yan XY Lacaze-Masmonteil Thierry T Rankin Catharine C Hieter Philip P
American journal of human genetics 20200201 2
Advances in genomics have transformed our ability to identify the genetic causes of rare diseases (RDs), yet we have a limited understanding of the mechanistic roles of most genes in health and disease. When a novel RD gene is first discovered, there is minimal insight into its biological function, the pathogenic mechanisms of disease-causing variants, and how therapy might be approached. To address this gap, the Canadian Rare Diseases Models and Mechanisms (RDMM) Network was established to conn ...[more]