Daniela Fusco (@DFusco17) header
Daniela Fusco (@DFusco17) profile picture

Postdoc researcher | PhD in AI for Health and Life Sciences

Joined September 2023
Photo by Daniela Fusco (@DFusco17)Photo by Daniela Fusco (@DFusco17)Photo by Daniela Fusco (@DFusco17)Photo by Daniela Fusco (@DFusco17)Photo by Daniela Fusco (@DFusco17)Photo by Daniela Fusco (@DFusco17)Photo by Daniela Fusco (@DFusco17)
In March 2024, at the age of 35, I was diagnosed with stage IV rectal cancer with a metastasis in my liver. This was a shock: I had no family history, and none of the doctors suspected it. After two years of chemotherapy, radiation, and multiple surgeries, I'm still not cured. Now I'm asking for help to get a personalized cancer vaccine. This is my story so far. Following diagnosis, I was treated with total neoadjuvant therapy at UCLA. I had 6 weeks of radiation and chemotherapy (Xeloda). This was followed by 6 rounds of oxaliplatin infusions and Xeloda. I tolerated this unusually well. During this period, I managed to hike up to over 11,000ft multiple times in the Sierras, and I wrote the main text of a 72 author meta-analysis paper and submitted it to Nature where it is still in review. I showed a good clinical response, and at the end of October I had surgery: I was under for 9 hours, and they cut out a bit of my rectum, 1/3rd of my liver, and gave me a temporary ileostomy. Waking up from this was probably the strangest experience of my life: I felt more machine than man, and I had wild hallucinations form such a large dose of anesthesia. It took a while to feel OK after that surgery. However, I still had the ostomy. I had that reversed at the end of January in another surgery, which took a greater toll on me than I expected. I only just started to feel OK again and I got bad news: I got a positive circulating tumor DNA test (ctDNA), the signatera test from natera. Unfortunately, the ctDNA carried on rising, and in July 2025 a new lesion appeared in a lymph node near my liver (periportal). I was treated with irinotecan and panitumumab infusions, which showed a good response, followed by live MRI guided SBRT radiation treatment to the lesion. However, after finishing this treatment, the ctDNA remained positive and began rising again. I restarted irinotecan and panitumumab infusions, which brought ctDNA back to negative (signatera), although it remained positive on the more sensitive Personalis assay. During this period I had begun to develop stomach pain and digestive symptoms. Then I collapsed vomiting blood while out in Santa Monica and was rushed to the ER. They found out I had a duodenal ulcer that had bled. I had some blood transfused, and I was sent home to complete an intensive course of antibiotics for H. Pylori infection. However, after about a week, I started to get very weak. I collapsed again and went back to the ER in an ambulance. They found my hemoglobin was 5g/dL, a dangerously low level (normal is over 13.5). Multiple blood transfusions didn't bring it up and I collapsed again in the night after passing a large amount of blood. They took me to intensive care and performed an emergency endoscopy where they clipped and sprayed the ulcer. Thankfully this worked and I was discharged after another 3 nights in hospital. Unsurprisingly, nearly bleeding to death wasn't good for me, and my ctDNA began to spike rapidly. I had a PET-CT and it revealed 3 new disease sites in abdominal lymph nodes. I restarted irinotecan and panitumumab infusions after barely recovering from the ulcer incident. This showed an excellent response, with the sites resolving on imaging, although ctDNA remained positive. I've now started bot/bal immunotherapy, a not yet approved immunotherapy treatment that is the first of its kind to show strong results in my kind of cancer, micro-satellite stable colorectal cancer. This was possible thanks to a donation from an anonymous benefactor and supporter of free and open inquiry in science. Hopefully this treatment will be effective, but it is unlikely to be enough on its own to prevent future disease recurrence. I am asking for help to get a personalized neoantigen cancer vaccine, which could substantially increase my chances of surviving this deadly disease that is likely incurable under standard care. While cancer vaccines have shown promising results, they are not yet approved, meaning one has to pay for the design, manufacture, and administration of the vaccine. The total cost of which is $104,133, beyond my means or those of my family. Any help would be greatly appreciated! I've started a GoFundMe here: gofundme.com/f/cancer-vaccin…. Please donate and share with anyone who might be interested in helping. I've carried on working throughout this period and I'm still running a research group in statistical genetics at UCLA. I'm hoping to continue making contributions to science for as long as I can, hopefully longer with your help.
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Daniela Fusco retweeted
New preprint on a controversial topic: Through which socioeconomic mechanisms do individuals with higher genetic predisposition for educational attainment end up with higher income over their working life? We study this using uniquely rich Finnish data.
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Daniela Fusco retweeted
New preprint out: Effects of introgressed Neanderthal alleles on present-day brain morphology! 🧬🧠 using 370 phenotypes derived from ~40k brain MRIs we found a textbook neanderthal-mediated GWAS hit at DAAM1, Neanderthal burden associations and more biorxiv.org/content/10.64898…
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🚨New preprint out Mapping real-world statin adherence at population scale (doi.org/10.64898/2026.01.26.… ). We analysed >1 million long-term statin users in Finland and Italy (Lombardy), identified adherence patterns, and examined baseline factors associated with declining adherence.
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I liked the idea of this recent preprint suggesting that adjusting for genetic effects improves the utility of plasma proteins as biomarkers. Most protein associations with disease risk were significantly stronger after adjusting for their genetic architecture. medrxiv.org/content/10.1101/…
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Daniela Fusco retweeted
New pre-print out! 🎉 With Mathilde + team we traced spatio-temporal shifts in genetically regulated #transcription across 10,000 years of Western Eurasia, fine-mapping regulatory features targeted by #selection! 👉 doi.org/10.1101/2025.11.21.6… ! #popgen #genomics
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Daniela Fusco retweeted
We are pleased to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature. Please check out our manuscript here: nature.com/articles/s41586-0….
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A new preprint reports a rare case of a boy with X-linked Fanconi anemia in whom the hematopoietic phenotype (bone marrow failure) was completely rescued by full triploid mosaicism (69, XXY) 🤯 Fanconi anemia (FA) is an inherited genetic disorder caused by mutations in DNA repair genes leading to bone marrow failure, congenital abnormalities, and increased cancer susceptibility. The one of subtypes of FA is an X-linked disease caused by mutations in FANCB. In a hospital in Melbourne, doctors one day encountered a remarkable case of a boy with FA. Initially he presented with clinical features suggestive of FA, along with positive family history with X-linked inheritance. Diagnostic work up confirmed a loss of function mutation in FANCB. As any other child with FA, the doctors expected his clinical course to worsen with time, ultimately leading to bone marrow failure and requiring a bone marrow transplant. But then they noticed something strange! As doctors monitored his bone marrow over time, they noticed an unusual shift in his cells' chromosomes: At diagnosis: 99% of bone marrow cells were normal diploid (46,XY) - but FA-deficient 15 months later: 10% had become triploid (69,XXY) 25 months later: 95% triploid 28 months later: 100% triploid Puzzlingly, his blood counts did not worsen during follow ups, and he didn't go into aplastic anemia. A research team, led by Wayne Crismani at St Vincent's Institute in Melbourne, investigated the case and discovered something extraordinary. Here's what happened: The egg (that became this boy) carrying a defective FANCB gene on its X chromosome was fertilized by a normal Y-bearing sperm, creating a diploid (46, XY) embryo destined for FA. But then something extremely rare happened: the second polar body from meiosis II that usually gets discarded during fertilization somehow got incorporated into early embryonic cells. This polar body carried the mother's other X chromosome with a normal FANCB gene. Fusion of this polar body resulted in a mosaic embryo with two cell populations: - diploid cells (46,XY) with a single copy of defective FANCB gene - triploid cells (69,XXY) with two copies of FANCB gene--one defective and the other normal. In most tissues, the triploid cells remained a minority. For example, his skin cells were 96% diploid. But in the bone marrow - where cells divide constantly and accumulate DNA damage - the triploid cells had a massive competitive advantage. Over just two years, the triploid lineage spread through his entire bone marrow, replacing every cell with full triploid (69, XXY) genome. The genomic fingerprint clearly showed that two X chromosomes in the triploid cells came from the mother: identical sequences near centromeres (where no cross-overs happen) and different sequences near telomeres (where cross-overs happen) This pattern could only come from sister chromatids that separated during the mother's egg formation - one went into the egg, the other into the second polar body that was supposed to disappear but instead became this boy's lifeline. This case represents an extraordinary case of "natural gene therapy" - a developmental anomaly injecting extra DNA inside cells treating a fatal genetic disease. Sharp, Harris, et al. medRxiv 2025 medrxiv.org/content/10.1101/…
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Daniela Fusco retweeted
🎉 New preprint out! "Removing genetic effects on plasma proteins enhances their utility as disease biomarkers" We show that adjusting plasma proteins for genetic effects can make them stronger predictors of disease 👉 doi.org/10.1101/2025.10.14.2…
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Daniela Fusco retweeted
🧬💥 Do the genetics that make you develop a disease also help you survive it? Not much. Our new @NatureGenet including 9 disease and 7 biobanks shows: • Susceptibility variants ≠ survival • PRSs for onset weak at predicting survival • Lifespan PRS predicts survival better
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Daniela Fusco retweeted
Matteo Ferro, a doctoral candidate in my team has a new blog on health data science where he is collecting the most interesting papers, each month. Check it out! healthdatascience.substack.c…
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#ESHG2025 it’s a wrap! So glad to have joined and caught stunning human genetics highlights 🧬 @eshgsociety – at Milano, Lombardia
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Daniela Fusco retweeted
And more posters at #eshg today! Meet Daniela and Davide at P18.116C and P21.001C in the coming session, and Roberta at P21.022D later today!
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Daniela Fusco retweeted
Are you at #eshg2025 in Milan? Come and check out what we are up to! 3 posters from our group in the coming session: Camilla at P18.011.B, Irene at P18.016B and Ettore at P18.131B!
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Daniela Fusco retweeted
Hei, curious about how we use a pedigree-BLUP to estimate heritability and to construct family risk score for phenotype prediction? 👀🧬 Today, I will represent our team to present our work at #ESHG #ESHG2025 in Session C14 (Space 3, 18:30-20:00). Look forward to seeing you! 😀
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We are presenting tomorrow in Milan at #ESHG #ESHG2025 session C02 GWAS: Bigger, faster, stronger (10:30 am Auditorium) 💁‍♀️ Come and catch me if you can 🤫
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