TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic...

Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying...

Undiagnosed Diseases Network (UDN)- Participant 119

Male, age 18, with weak and brittle bones (osteoporosis), immune system abnormalities (antinuclear antibody positivity), and type 1 diabetes mellitus.

NIST Proposes Approach for Reducing Risk of Bias in Artificial Intelligence

In an effort to counter the often pernicious effect of biases in artificial intelligence (AI) that can damage people’s lives and public trust in AI, the Nati

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of...

GDF11 is needed for human development, particularly neuronal development, and LOF GDF11 alleles can affect the development of numerous organs and tissues.

An Algorithm That Predicts Deadly Infections Is Often Flawed

A study found that a system used to identify cases of sepsis missed most instances and frequently issued false alarms.

Undiagnosed Diseases Network (UDN)- Participant 183

Female, age 13, with immune deficiency, arthralgia, retinal vasculitis, and inflammation of the liver caused by a change in the GDF11 gene.

SAIL 2021 – Call for Abstracts

Undiagnosed Diseases Network (UDN)- Participant 182

Male, age 1, with leukodystrophy, developmental delay, abnormal brain electrical activity, and eye abnormalities.

Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in...

This Internet case-finding strategy was of interest to patients, families, and clinicians, and similar patients were identified using this approach. Extending matchmaking efforts to the general...

A new replication crisis: Research that is less likely to be true is cited more

Papers that cannot be replicated are cited 153 times more because their findings are interesting, according to a new UC San Diego study

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current...

Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes...