Aris N. Economides

Aberrant ciliogenesis induced by enhanced BMP signaling causes heterotopic ossification

This paper identifies BMP signaling as a driver of heterotopic ossification by promoting ciliogenesis and establishing a sensitized signaling hub that facilitates osteochondrogenic differentiation.

Germline Targeted Baboon Apolipoprotein L-1 Protects Mice Against African Trypanosomes

This study generates trypanosome-resistant murine models expressing primate APOL1 proteins to investigate their role in immunity, finding that baboon APOL1 provides partial protection but with limited expression, while a chimeric APOL1 variant shows protection with a fitness cost.

CryoEM structure of ALK2:BMP6 reveals distinct mechanisms that allow ALK2 to interact with both BMP and Activin ligands

This paper presents the cryoEM structure of ALK2:BMP6, revealing distinct mechanisms for ALK2's interaction with BMP and activin ligands.

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings

The paper identifies SLC39A5 as a gene whose loss-of-function variants are associated with reduced type II diabetes risk and improved liver function in metabolic disorders.

NOTCH3 p.Arg1231Cys is Markedly Enriched in South Asians and Associated with Stroke

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

Odd skipped-related 1 controls the pro-regenerative response of Fibro-Adipogenic Progenitors

This study identifies Osr1 as essential for FAPs to support muscle regeneration by regulating communication with MuSCs and macrophages, and its loss leads to impaired regeneration and fibrosis.

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.

The paper examines genetic variation and natural selection at SARS-CoV-2 host genes in diverse populations and links selected variants to clinical phenotypes in COVID-19.

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

Saracatinib is an efficacious clinical candidate for fibrodysplasia ossificans progressiva

The paper identifies saracatinib as a potent ALK2 inhibitor effective in preventing heterotopic ossification in FOP models.

Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

The paper performs exome-wide association studies in large cohorts to identify genetic variants linked to human age, finding new candidates and confirming known ones.

Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis.

Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.

Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity.

The paper investigates PRUNE1 variants causing NMIHBA, showing they disrupt exopolyphosphatase activity and lead to neurodevelopmental defects in mice.

Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

The paper identifies a missense variant in B4GALT1 associated with lower LDL-C and fibrinogen, supported by genetic, functional, and glycan profiling evidence.

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

Exomes of 49,960 UK Biobank participants reveal 231,631 predicted loss-of-function variants (>10-fold more than imputed data); burden tests implicate PIEZO1, MEPE, and COL6A1 in disease traits.

The cortico-striatal circuit regulates sensorimotor gating via Disc1/Huntingtin-mediated Bdnf transport

This study shows that the cortico-striatal circuit regulates sensorimotor gating through Disc1/Huntingtin-mediated Bdnf transport, with lithium restoring deficits in Disc1-LI mice.

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

The paper identifies and analyzes exonic copy number variants (CNVs) in 50,726 DiscovEHR participants, linking them to clinical traits and phenotypes.