Stephen S. Rich

Jan 12, 2025 | nature.com | Virginia S. Hahn |Ruin Moaddel |Joel S. Bader |Robert Gerszten |Jerome I. Rotter |Stephen S. Rich | +4 more

AbstractPeople living with HIV are at higher risk of heart failure and associated left atrial remodeling compared to people without HIV. Mechanisms are unclear but have been linked to inflammation and premature aging. Here we obtain plasma proteomics concurrently with cardiac magnetic resonance imaging in two independent study populations to identify parallels between HIV-related and aging-related immune dysfunction that could contribute to atrial remodeling and clinical heart failure.

Jul 19, 2024 | nature.com | Zhila Semnani-Azad |Mario L. Morieri |John Dennis |Claudia Langenberg |Michèle Ramsay |Arun J Sanyal | +6 more

AbstractPrecision medicine should aspire to reduce error and improve accuracy in medical and health recommendations by comparison with contemporary practice, while maintaining safety and cost-effectiveness. The etiology, clinical manifestation and prognosis of diseases such as obesity, diabetes, cardiovascular disease, kidney disease and fatty liver disease are heterogeneous.

May 13, 2024 | nature.com | Matthew Lincoln |Christiane Gasperi |David van Heel |Sebo Withoff |Iris H. Jonkers |Leonid Padyukov | +6 more

AbstractAutoimmune and inflammatory diseases are polygenic disorders of the immune system. Many genomic loci harbor risk alleles for several diseases, but the limited resolution of genetic mapping prevents determining whether the same allele is responsible, indicating a shared underlying mechanism. Here, using a collection of 129,058 cases and controls across 6 diseases, we show that ~40% of overlapping associations are due to the same allele.

May 6, 2024 | nature.com | Yash Pershad |Adrienne M. Stilp |Braxton D. Mitchell |Joshua Lewis |Nathalie Chami |Zhe Wang | +21 more

AbstractClonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in cancer driver genes or larger structural rearrangements called mosaic chromosomal alterations (mCAs). The factors that influence the variations in mCA fitness and ultimately result in different clonal expansion rates are not well understood.

Apr 6, 2024 | nature.com | Jamie Felton |S. Alice Long |Suna Onengut-Gumuscu |Stephen S. Rich |dianna perez |Linda A. DiMeglio | +2 more

AbstractIslet autoantibodies form the foundation for type 1 diabetes (T1D) diagnosis and staging, but heterogeneity exists in T1D development and presentation. We hypothesized that autoantibodies can identify heterogeneity before, at, and after T1D diagnosis, and in response to disease-modifying therapies.