Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vas...

The concept of gene therapy has long appealed to biomedical researchers and clinicians because it promised to treat certain diseases at their origins. In the last several years, there have been several trials in which patients have benefited from gene therapy protocols. This progress, however, has revealed important problems, including the problem of insertional oncogenesis. In this review, whi...

Steady progress in our understanding of the genetic basis of autoinflammatory diseases has been made over the past 16 years. Since the discovery of the familial Mediterranean fever gene MEFV (also known as marenostrin) in 1997, 18 other genes responsible for monogenic autoinflammatory diseases have been identified to date. The discovery of these genes was made through the utilisation of many ge...

Introduction Blau Syndrome (Blau) is a granulomatous auto-inflammatory disease caused by mutations in NOD2 that have been proposed to result in phosphorylation of RIP2 kinase and the production of pro-inflammatory cytokines. Such monogenic diseases can bring to light pathways that are also likely to be involved in more genetically complex diseases. For example, increased RIP2 phosphorylation ha...

Introduction Monogenic autoinflammatory diseases are a group of genetic conditions characterized by a dysregulation of inflammatory response that include more than 20 diseases. Despite the fact that they are different clinical entities, several signs and symptoms are shared, making their differential diagnosis difficult. Moreover, in most cases, a definitive diagnosis is exclusively achieved by...

Obesity and type 2 diabetes (T2D) are common and complex metabolic diseases, which are caused by an interchange between environmental and genetic factors. Recently, a number of large-scale genome-wide association studies (GWAS) have improved our knowledge of the genetic architecture and biological mechanisms of these diseases. Currently, more than ~250 genetic loci have been found for monogenic...

Sangamo scientists or collaborators will deliver ten oral and nine poster presentations during the conference. These presentations will detail data from therapeutic and research programs for lysosomal storage disorders and other monogenic diseases, cancer immunotherapy, and central nervous system disorders, as well as advancements in genome editing technology and novel delivery modalities. Sang...

Obesity is a clinical syndrome which is driven by interactions between multiple genetic and environmental factors. Monogenic obesity is a rare type of obesity which is caused by a mutation in a single gene. Patients with monogenic obesity may develop early onset of obesity and severe metabolic abnormalities. In this study, we screened mutations of LEP in a total of 135 Chinese individuals inclu...

Systemic autoimmune and autoinflammatory disease are associated with all types of diffuse kidney disease, that is, glomerulonephritis (including rapidly progressive), thrombotic microangiopathy, tubulointerstitial nephritis, AA-amyloidosis. However, the occurrence nephropathies differ significantly in patients various systemic immunemediated inflammatory diseases. For example, is one leading ma...

Complement factor H related protein 5 (CFHR5) nephropathy is a monogenic disorder of complement regulation that is endemic in Cyprus. The disease is characterised by haematuria, C3 glomerulonephritis and kidney failure. Its identification suggests a role for the CFHR5 protein in the regulation of complement in the kidney. In this review, we discuss how studying CFHR5 nephropathy can contribute ...