How pitting genetics against epidemiology threatens progress in Parkinson's research

Differences in these genes help explain why Epstein-Barr Virus can have lasting health effects in some people but not others.

Baylor College of Medicine researchers are part of a collaborative research group with AstraZeneca and Memorial Sloan Kettering Cancer Center that have...

Scientists have identified 22 genes that increase the risk of conditions like lupus, stroke, and rheumatoid arthritis in patients who’ve caught the virus behind mono, an illness known as the “kissing ...

The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model predicts a simple relationship between the total frequency ...

Large-scale longitudinal health records reveal consistent association of varicella-zoster virus reactivation with dementia.

Stem-cell models provide evidence that viral DNA sequences that entered the human genome in the past were repurposed to aid early stages of embryonic development.

Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence for variants in BRCA1 , over half of reported single-nucleotide variants (...

A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.

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Postdoctoral Associate- Human Genetics

Here the authors show that expanding global ancestry diversity in genomic datasets improves detection of genomic regions intolerant to variation, identifying areas more likely to harbor disease-causin...

Spargo et al. analyzed whole-genome sequence data from ∼900,000 individuals and found that protein-truncating variants in ITSN1 confer a ∼10-fold increased risk of Parkinson’s disease. Functional stud...

A new study published in Cell Reports reveals a breakthrough discovery linking genetic variants in the gene ITSN1 to a significantly elevated risk of Parkinson’s...

NIH’s abrupt decision to cap indirect cost reimbursement at 15% threatens the critical infrastructure supporting groundbreaking biomedical research in the United States. This policy jeopardizes America’s global leadership in science and medicine. Urgent…

Thousands of neurodevelopmental disorder (NDD)-associated genes remain undiscovered, limiting genetic diagnoses. Here, we employ inheritance-specific machine learning models, incorporating gene expres...

Researchers have developed an artificial intelligence (AI) approach that accelerates the identification of genes that contribute to neurodevelopmental...

Thousands of neurodevelopmental disorder (NDD)-associated genes remain undiscovered, limiting genetic diagnoses. Here, we employ inheritance-specific machine learning models, incorporating gene expres...

Rapidly expanding genomic databases have enabled the identification of regions in the human genome intolerant to variation and thus likely relevant to human disease. However, despite their unprecedent...