The latest research in CTDs and Genetics, listed from most recent (top of list) to older resources (bottom of list).
Listings include a link embedded in the name of the study, the year it was published, and a credit to the group member who shared it with us.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome, Journal of Medical Genetics, October 2023, via Jane Y.
Making genetic prediction models more inclusive, Anne Trafton for MIT News, October 2023
ADRA2A and IRX1 are putative risk genes for Raynaud’s phenomenon, Nature Communications, October 2023, via Jane Y.
Thousands of programmable DNA-cutters found in algae, snails, and other organisms, “…an extensive set of programmable enzymes that might be adapted into new tools for research or medicine,” Jennifer Michalowski of the McGovern Institute for Brain Research for MIT News, October 2013
AI Tool Decodes Brain Cancer’s Genome During Surgery, by Ekaterina Pesheva for the Harvard Medical School’s News and Research, July 2023, via Jon R.
Patient-scientists use personal experiences to advance research, by Amy Weintraub for MUSC, July 2023, via AnneMarie C.
New method improves accuracy of DNA sequencing 1000-fold to detect rare genetic mutations CODEC could help scientists find early-stage cancer from blood samples, other disease-causing mutations, and more. by Allesandra DiCorato for the Broad Institute on April 2023
Genomes from 240 mammalian species reveal what makes the human genome unique Allesandra DiCorato for the Broad Institute April 2023
Rapid genome sequencing helps save hundreds of critically ill babies More than 400 children have taken part in a rapid whole-genome sequencing trial at every hospital in Australia. With results in less than three days, many of the participants have quickly been diagnosed with rare genetic conditions and received appropriate treatment. March 2023, via Jon R.
Designing More Useful Bacteria Researchers create virus-resistant, safely restrained E. coli for medical, industrial applications. Harvard Medical School News and Research March 2023, via Jon R.
About The Norris Lab at the Medical University of South Carolina, which has recently “identified a very strong candidate gene for hypermobile Ehlers-Danlos syndrome” (not yet published). Tour the lab, read about its researchers and current projects; and as soon as that study is published we will have it here! (March 2023)
A NPAS4–NuA4 complex couples synaptic activity to DNA repair, Nature, February 2023
Mutation in MIA3 gene a likely cause of hEDS, study suggests, Ehlers-Danlos News, Februray 2023 by Patricia Ignacio (this article links to the study, A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers–Danlos hypermobile syndrome, Advances in Clinical and Experimental Medicine, 1/5/23)
New approach successfully traces genomic variants back to genetic disorders: NIH study shows genotype-first approach uncovers new links to genetic conditions, January 2023 via Jane Y.
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation, Proceedings of the National Academy of Science, November 2022 via Kim D.
RNA-sensing system measures and controls protein expression in cells, A new technology called RADARS allows scientists to detect and target specific cell types, opening up potential applications in diagnostics and therapeutics, Nature Biotechnology, October 2022 via Jon R.
FKBP14 Gene Mutations Lead to Collagen Protein Buildup in kEDS, October 2022, via Jon R.
Resource utilization and multidisciplinary care needs for patients with Ehlers–Danlos syndrome: Treatment plans for patients suffer from poor integration, resulting in heavy burden (article). Original study in Molecular Genetics and Genomic Medicine, September 2022 via Jon R.
EDS and CTD New England/MA Support Group 
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