This Scientific Reports Collection welcomes original research on Inborn errors of metabolism. Narrative review articles are also welcomed, to our sister journal Scientific Reviews. For further ...

Inherited diseases of metabolism and immunity have more in common than previously recognized, according to a new study. The findings point to a new set of metabolic genes that are important for the ...

Inborn errors of metabolism (IEMs) are rare, devastating disorders caused by pathogenic variants in genes encoding key metabolic enzymes, with the liver playing a critical role in over 140 IEMs. Liver ...

GAINESVILLE, Fla.--(BUSINESS WIRE)-- Cyclo Therapeutics, Inc. (Nasdaq: CYTH) (“Cyclo Therapeutics” or the “Company”), a clinical stage biotechnology company dedicated to developing life-changing ...

Inherited diseases of metabolism and immunity have more in common than previously recognized, according to a new study published in the journal Science Immunology. The findings point to a new set of ...

Please provide your email address to receive an email when new articles are posted on . Historically marginalized populations may see underdiagnosed rates of inborn errors of immunity. Barriers beyond ...

In vitro and animal model studies conducted by scientists at the University College London (UCL) have demonstrated the feasibility of a gene therapy approach to correct the deficiency of a regulatory ...

Scientists at Pacific Northwest Research Institute (PNRI) have overturned a long-held belief in genetics: that inheriting two harmful variants of the same gene always worsens disease. Instead, the ...

A new report says early evidence of using gene therapy to treat monogenic diseases offers reason for optimism. Gene therapy (GT) holds significant potential to help correct monogenic diseases, ...

Please provide your email address to receive an email when new articles are posted on . 85% of the patients with diagnosed or suspected community-acquired sepsis had undiagnosed genetic diseases.