Predicting when symptoms of Alzheimer's disease will occur with a single elevated p-tau217 blood test and a person's age, even 20+ years in advance
@naturemedicine.bsky.social
nature.com/articles/s41...
Big news: Eric Green, former director of NHGRI, has been appointed CMO of Illumina, effective Feb 2, 2026.
Eric is a key architect of the Human Genome Project and a driving force behind genomic medicine. Good move from Illumina, and great to see the focus on bringing genome to medicine!
Is it the bigger the better with PGx testing?
Response from Quest Diagnostics:
On September 4, 2025, they launched a revamped pharmacogenomics (PGx) testing service, offering a narrower panel and streamlined results reporting.
What do you think?
A PNAS study reveals the mechanism of CACNA1C-schizophrenia GWAS associations: A variable region of the intron 3 VNTR repeats in CACNA1C, in strong linkage with risk SNPs, lowers CACNA1C expression in the brain, potentially disrupting CaV1.2 channel function vital for neuronal signaling and memory.
An interesting AI-driven method for gene-set analysis was just published in Nature Methods. The bioinformatics tool ‘GeneAgent’ pairs GPT-4 with biological database checks to reduce LLM hallucinations in GSEA, outperforming GPT-4 alone with 92% accuracy (per expert review). #genomics #LLM
For researchers studying human diseases and health via #epigenetics, the Epigenetics Research Grant from Illumina might be of interest. Deadline: Aug 24, 2025. Eligible: genomic scientists at academic, nonprofit, or for-profit institutions. #ResearchGrant
New @commsbio.nature.com study: A father’s weight during puberty may shape their child’s health. Overweight adolescent dads passed on epigenetic changes linked to asthma risk, lower lung function & higher BMI in kids. Puberty could be a critical window for transgenerational health. #epigenetics
At AACR 2025, the ROME trial showed combining tissue + liquid biopsies improves survival in advanced tumors. Median OS hit 11 months when two biopsies matched. Discordance was highest in PI3K/PTEN/AKT/mTOR & ERBB2 pathways—highlighting the importance of dual profiling to capture tumor heterogeneity.
Illumina and Ovation.io are developing the first real-world dataset to integrate clinical and #multiomics data from 25,000 patients on GLP-1 therapies. This pioneering effort aims to uncover how biology & genetics shape individual treatment responses, enable personalized care for #diabetes patients.
Kabuki syndrome type 1 (KS1) is a rare genetic disorder. A causal Alu insertion was identified in a unsolved Kabuki syndrome patient - amazingly - through DNA methylation signature. It's the first documentation of Alu insertion as a molecular mechanism responsible for KS1. #RareDisease
The FDA recently missed the approval deadline for a biotech company's #raredisease drug, may be linked to significant job cuts at the FDA, which have raised concerns about the agency's ability to handle drug reviews efficiently.
A new Cell article highlights how #geroscience is moving toward clinical use via precision #geromedicine. With tools like epigenetic clocks, scientists are developing personalized anti-aging therapies—senolytics, tailored diets, and more—to target aging and boost healthspan. Exciting direction!
Could vaccines help prevent Alzheimer’s disease? Recent studies suggest that some viruses like HSV-1 & VZV may accelerate Alzheimer’s disease via brain inflammation, while #vaccines, especially for shingles, may reduce it. Evidence is growing, but more research is needed.
A new study in @naturecomms.bsky.social reports a novel PLpro inhibitor that improves outcomes in a preclinical model of #longCOVID. This compound shows promise in reducing lung pathology and brain dysfunction, offering potential for future treatments.
@labcorp.bsky.social has launched a U.S. blood test to aid Alzheimer’s diagnosis. It measures ptau-217/beta amyloid 42, potentially cutting reliance on imaging/CSF tests. With 95% sensitivity & specificity, it could significantly shorten the current 2–3 year time from first symptoms to diagnosis.
A new study shows that Pharmacogenetics test results can change with updated interpretation methods. Many past #PGx interpretations, e.g. on CYP2D6 and CYP2C19, may be outdated—potentially changing metabolizer status & drug response assessments.
Time to reanalyze the old genetic data?
Autoimmune diseases have higher comorbidity with cancer. A new @science.org study however found that the 4H2 autoantibody, derived from lupus, may help target cancer cells. This surprising link could open the door to a new class of promising treatment strategies bridging autoimmunity and oncology.
A study from Yale researchers links persistent spike protein to post-COVID-19 vaccination syndrome, using data from 42 patients and 22 controls. Other findings include immune dysregulation, Epstein-Barr virus reactivation (also linked to #MECFS and #LongCovid), and neuromodulatory deficiencies.
New AI tools like InstaNova are transforming protein sequencing by rapidly identifying proteins, even unknown ones, from mass spec data. AI’s efficiency surpasses traditional methods, unlocking insights into millions of protein variations.
Columbia’s Center for Solutions for ME/CFS, a key research hub, has to halted its work due to Trump-era funding cuts, stalling clinical progress.
#MECFS remains severely underfunded—NIH allocated just 3-7% of typical disease funding (2015-2019). Urgent investment is needed.
#LongCovid affects doctors too. GP Dr. Ben Sinclair, a former triathlete, battled severe fatigue and brain fog. Now, he’s using his experience to help others, launching one of the UK’s first online long Covid clinics focused on gut health, mental well-being, and patient-centered care.
We are proud to announce Bing Ren, PhD, as the new Scientific Director & CEO of the New York Genome Center
Dr. Ren brings his expertise in the fields of genomics & epigenetics to the NYGC & Columbia University, where he will hold a joint appointment.
For more on Dr. Ren: bit.ly/3DJXtah
A @naturerevgenet.bsky.social article by Fu et al. reviews how long-read sequencing advances DNA #methylation analysis, aiding insights into gene regulation & disease. It discusses computational tools for methylation detection and genomic integration, highlighting challenges and future directions.
A study using All of Us data revealed that among 60,135 cancer patients, 73% had a family history, yet only 281 (0.5%) had documented genetic testing.
There’s significant room to enhance #PrecisionOncology by improving EHR data standardization, documentation, and access to genetic testing.
Homo sapiens arrived in Europe 50,000–60,000 years ago with dark skin, hair, and eyes, says Ghirotto. Lighter traits appeared 14,000 years ago but stayed rare until 3,000 years ago. In some areas, dark skin lasted into the Copper Age. A striking selective sweep on skin color—surprised?
A @newscientist.com article: AI scientists are sceptical that modern models will lead to AGI.
In a survey of AI researchers, most say current AI models are unlikely to lead to artificial general intelligence with human-level capabilities, even as companies invest billions of dollars in this goal
Easy-to-use software & reproducible code are key for precision medicine adoption.
A new Tumor Molecular Pathology Toolkit published in Cancer Cell aims at assigning TCGA tumor subtypes to new samples, improving cancer subtyping in clinics & aiding treatment selection.
#PrecisionOncology
A study reveals that Nanopore and PacBio sequencing fail to capture Y-linked Drosophila exons near satellite sequences, despite deep coverage. In contrast, Illumina #sequencing successfully assembles these regions, highlighting a bias in long-read technologies. #Genomics
Our thymus, a critical source and trainer of T cells, involutes with aging. 2 new studies find a growth factor (FGF21) that delays involution (in mouse models) and may be a way to rejuvenate our immune system and promote healthy aging in the future.
