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.

Researchers at the National University of Singapore published a personalized cancer treatment strategy using red blood cell-derived vesicles (RBCEVs) to deliver antisense oligonucleotides (ASOs). This targeted approach suppresses EGFR in mutated cancer cells, sparing normal cells. #PrecisionOncology

UC San Francisco researchers are developing a next-gen radiation therapy that precisely targets tumors while sparing healthy tissue. Building on Dr. Kevan Shokat’s KRAS research, it eliminated lung cancer in mice with minimal side effects. Will it improve outcomes for KRAS-driven cancers in humans?

In a recent letter to the European Journal of Applied Physiology, Garbsch et al. critique a study by Berg et al. that found no differences in max oxygen uptake between #LongCOVID patients and controls, citing a small sample size and selective patient exclusion. link.springer.com/article/10.1...

For those interested in measuring biological age, a new study shows that sample type impacts accuracy. Analyzing 284 tissue samples from 83 people (ages 9–70), researchers found major differences in epigenetic clock estimates, with some oral vs. blood-based measures varying by nearly 30 years.

Australian research finds brain swelling in #LongCOVID and #MECFS patients, linked to memory and concentration issues. MRI showed a significantly larger hippocampal volume in affected individuals compared to healthy controls. The study included 17 long COVID, 29 ME/CFS patients, and 15 controls.

DeepGEM, an AI model, accurately detects KRAS and EGFR alterations using NSCLC histological images alone (accuracy: 0.79–0.96 for KRAS, 0.80–0.95 for EGFR). It can even generates spatial mutation maps, offering a cost-effective alternative to genomic testing and aiding personalized treatment.

The biopharma industry is changing for the better! Over the past three years, 70% of FDA-approved precision medicines came from outside big pharma. Smaller biotech companies are stepping up, bringing their innovations to market on their own! #PrecisionMedicine @biocentury.bsky.social

The NIH’s RECOVER Initiative advances #LongCovid research. Despite overlapping symptoms, #MECFS remains underfunded and overlooked. Advocates urge increased research and funding to improve treatments and care. Great opinion piece by W Ian Lipkin & Elizabeth Ansell on @statsnews.bsky.social !

A @naturemedicine.bsky.social study presents SCORPIO, an AI tool predicting cancer patients’ response to immune checkpoint inhibitors using routine blood tests. Trained on 9,745 patients, it outperformed PD-L1 staining and tumor mutational burden, highlighting AI’s potential in precision oncology.

A nationwide study of 58 million people in England found that patients with rare diseases had higher COVID-19 mortality rates, particularly those with conditions like bullous pemphigoid. It also highlighted the value of large-scale data in improving rare disease care and public health strategies.

A recent review on Pharmaco-Multiomics dives into the genetic and molecular sciences—think genomics, epigenetics, proteomics, metabolomics, and more—to shake up precision psychiatry. The #pharmacogenomics (PGx) family is getting bigger.

A review article on dietary supplements for #MECFS examined 14 studies (N=809). Some interventions (L-carnitine, CoQ10–selenium) showed reductions in #fatigue, despite challenges like small sample sizes & data gaps. Secondary outcomes like cognitive function and inflammation were mixed. #LongCovid

Pediatric solid tumors were thought non-immunogenic, but new research reveals why and how immune activity varies. A study of 191 children shows age & tumor type shape immunity, with T cell activity linked to mutation rates. Findings aim to advance #PrecisionOncology for children. #immunotherapies

A new Nature Digital Medicine article explores AI and machine learning in healthcare, focusing on precision oncology. It highlights advancements in diagnostics, treatment, and clinical trials while addressing challenges in data, algorithms, and clinical integration.

UK researchers released first ever national strategy for cancer vaccine development, focusing on pre-cancer biology & tumor-specific proteins to create preventive vaccines. They highlight mRNA tech’s potential for personalized treatments, aligning with GSK & Oxford’s £50M cancer vaccine initiative.

Myriad Genetics’ new study shows NIPT with AMPLIFY™ tech delivers high accuracy at 8 weeks, vs traditional 10+ weeks. AMPLIFY™ boosts fetal cfDNA, enabling earlier & reliable detection of trisomies & sex chromosome aneuploidies. Earlier, reliable screening is here! #NIPT #PrecisionMedicine

Signatera tumor-informed ctDNA assay found to influence adjuvant chemotherapy decisions in 16.3% of stage II/III colorectal cancer cases, leading to de-escalation in 59.9%. This underscore ctDNA’s value in guiding treatment. Hoping MRD tests become standard of care soon! #PrecisionOncology

From Ronald W, Davis, PhD. - HOPE FOR 2025 - I am very optimistic that soon the major mechanisms that initiate the disease will be found. This will allow a concerted effort to reverse the process and find a cure…. New post on my blog: www.whitneydafoe.com/mecfs/?post=... #MECFS #LongCovid

Children with #LongCOVID exhibit distinct blood protein patterns tied to inflammation and vascular changes, resembling findings in adults, according to a new Pediatric Research study. A machine learning model using these proteomic profiles achieved 93% accuracy, 86% specificity, and 97% sensitivity.

Men face more severe acute COVID-19, but women may have a higher risk of #LongCovid. A new study from JAMA Network Open on 12,276 participants found women had a 1.31x higher risk, with age, pregnancy, and menopausal status influencing outcomes. Hormonal factors may play a key role.

A informative review article from @digitalmedicine.bsky.social explores how computational and machine learning methods predicts drug interactions, focusing on synergy and antagonism to uncover combos that boost therapy or reduce side effects. #PrecisionMedicine #AI

Patients are arriving with direct-to-consumer (DTC) genetic test results, and doctors, it’s time to gear up! From ancestry insights to #pharmacogenomics (e.g. PGx test from @23andme.bsky.social), clinics are turning into genetic sleuthing grounds. Brush up on PGx—it’s getting personal! 🧬👩‍⚕️