Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1056/NEJMp1316367 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Humans are unreliable models of mouse disease.
Cell
September 2024
Kimberly and Eric J. Waldman Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mark Lebwohl Center for Neuroinflammation and Sensation, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Marc and Jennifer Lipschultz Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Allen Discovery Center for Neuroimmune Interactions, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:
In defying conventional views that dismissed itch as trivial, I persisted in studying basophils and ILC2s in human skin and atopic dermatitis. My research on JAK inhibitors for itch ultimately led to FDA-approved drugs. This is my story of disregarding categories and definitions-a story about an unconventional path in science that emphasizes innovation over conformity.
View Article and Find Full Text PDFPublic Perspectives on Direct-to-Consumer Testing Oversight.
Ther Innov Regul Sci
November 2024
School of Pharmacy, Temple University, Philadelphia, PA, USA.
The FDA published a final rule for Medical Devices; Laboratory Developed Tests in the Federal Register on May 6, 2024, which aims to ensure the safety and effectiveness of laboratory developed tests (LDTs) by amending current regulations. The rule also includes a policy to phase out the FDA's general enforcement discretion approach for LDTs, aligning them with other In Vitro Diagnostic Devices. Notably, direct-to-consumer (DTC) testing is exempt from this policy shift, as the FDA believes this category of tests has already met applicable requirements.
View Article and Find Full Text PDFDiscovery and SAR Study of Boronic Acid-Based Selective PDE3B Inhibitors from a Novel DNA-Encoded Library.
J Med Chem
February 2024
23andMe Inc, Therapeutics, 349 Oyster Point Boulevard, South San Francisco, California 94080, United States.
Article Synopsis
- - Human genetic studies indicate that PDE3B is linked to metabolic issues and dyslipidemia, prompting research into selective inhibitors to target this protein without affecting similar ones like PDE3A.
- - There are safety concerns regarding PDE3 inhibitors, particularly their potential to cause heart rhythm problems, making it essential to develop drugs that specifically inhibit PDE3B.
- - The study employed a DNA-encoded library screening method to find compounds that selectively inhibit PDE3B, leading to the discovery of effective boronic acid inhibitors that target the active site.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline Variant Curation.
Hum Mutat
December 2023
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Germline pathogenic variants in predispose individuals to develop a variety of benign and malignant tumors. Accurate variant curation and classification is essential for reliable diagnosis of -related tumor predisposition and identification of individuals who may benefit from surveillance. Since 2015, most labs have followed the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) sequence variant classification guidelines for germline variant curation.
View Article and Find Full Text PDFGene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci.
Front Genet
November 2023
Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, United States.
Article Synopsis
- Educational attainment is linked to cardiovascular health, and a large genomic study examined how it interacts with cholesterol and triglyceride levels in nearly 226,315 individuals across five population groups.
- The study identified 18 new genetic variations related to lipid levels—nine for low-density lipoprotein (LDL), seven for high-density lipoprotein (HDL), and two for triglycerides (TG)—some of which interact with educational attainment.
- Researchers also found five gene targets that potentially interact with FDA-approved drugs, suggesting a connection between genetics and drug responses related to lipid metabolism and overall health.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!