Sam Finlayson

About Me

I'm a pediatrics-trained clinical geneticist and a machine-learning researcher, and I spend my professional time between OpenEvidence, the genetics clinic at Seattle Children's, the rare-disease community, and the non-profit Team Hydro.

I live in Redmond, WA with my wife, three daughters, and our odd collection of pets.

Training
Stanford — BA, Human Biology
Research mentor: Daniel Rubin
Stanford — MS, Biomedical Informatics
Research mentor: Nigam Shah
Harvard & MIT — PhD, Quantitative Biology
Advisors: Isaac Kohane (HMS DBMI) & Peter Szolovits (MIT CSAIL)
Thesis: Learning Inductive Representations of Biomedical Data
Harvard & MIT — MD, Health Sciences & Technology
Seattle Children's & UW — Residency, Pediatrics & Medical Genetics
Now
SVP of Medical AI, OpenEvidence
Clinical Assistant Professor of Medical & Biochemical Genetics, Seattle Children's & UW
Associate Editor, NEJM AI
Affiliate Member, Treuman Katz Center for Pediatric Bioethics

Professional bio +

Samuel Finlayson, MD, PhD is a physician-scientist working at the intersection of artificial intelligence and rare pediatric disease. As SVP of Medical AI at OpenEvidence he helps lead work spanning AI product development, clinical data science, strategy, and nonprofit partnerships; as a Clinical Assistant Professor of Medical Genetics at Seattle Children's Hospital he cares for children with rare genetic disorders, with a special focus on congenital disorders of glycosylation. He is co-founder and Chief Scientific Officer of Team Hydro, a nonprofit focused on hydrocephalus research, and an Associate Editor at NEJM AI. He completed his undergraduate and master's degrees at Stanford and his MD and PhD at Harvard and MIT under Isaac Kohane and Peter Szolovits, then trained in pediatrics and medical genetics at Seattle Children's Hospital and the University of Washington.

What I work on

Research

My research interests span much of the intersection of medical AI and pediatrics, but major themes include:

Rare & genetic disease diagnosis and therapy+

I am deeply motivated by the challenge of helping patients and families affected by rare disorders navigate the diagnostic and therapeutic odysseys they face. My work builds new methods for diagnosis and for designing therapies, including novel classes of therapeutics aimed at individual variants. I collaborate with international research groups such as the N=1 Collaborative, the Undiagnosed Diseases Network, and the Frontiers in CDG Consortium. I occasionally help lead clinical trials, and currently serve as a sub-investigator on the Glycomine trial for PMM2-CDG.

Trustworthy & reliable clinical AI+

I am fascinated by the technical and governance challenges of making clinical AI systems safe and effective. As a researcher I have studied how models behave in dynamic and adversarial settings, including work published in Science and NEJM. I am an Associate Editor at NEJM AI, and I have co-founded or co-led several international conferences including SAIL, CHIL, and ML4H. At Seattle Children's I am an affiliate member of the Treuman Katz Center for Pediatric Bioethics and a member of the Artificial Intelligence Review Board.

Learning from real-world clinical data+

Modern medicine runs as a dynamic, multi-layered information-processing system, and much of its evidence sits locked in records generated during ordinary care. At OpenEvidence and in my own research, I build methods that turn those records into usable insight for biomedicine and clinical practice. I particularly enjoy projects that require integrating diverse sources — clinician notes, insurance claims, electronic health records, imaging, -omics — for tasks that range from cohort discovery to regulatory evidence.

Novel machine-learning methods+

I enjoy inventing new techniques for biomedical problems, including core algorithmic development. This work has led to publications at computer-science venues including NeurIPS and ICLR.

      CV →
      Google Scholar →
    

Clinical Practice

As a clinical assistant professor in medical and biochemical genetics at Seattle Children's Hospital, I care for patients and families with known or suspected rare genetic disorders. I am perennially touched by the optimism and resilience of these families, who are so often tasked with navigating great uncertainty and a rapidly evolving medical literature.

In addition to seeing patients in the medical genetics clinic, it is my great honor to co-lead the Congenital Disorders of Glycosylation (CDG) clinic founded by Dr. Christina Lam in biochemical genetics at Seattle Children's. The CDG clinic provides a medical home for individuals with CDGs throughout the Pacific Northwest, and is a site for several ongoing research efforts, including the Natural History Study and clinical trials. CDGs are a family of rare inherited conditions caused by defects in glycosylation — the intricate cellular process of building and attaching sugar chains (glycans) to proteins and lipids. Because glycosylation touches nearly every organ system, CDGs show striking clinical diversity. They also seem to attract some of the most remarkable patients and families, including my thesis-committee member and hero Matt Might, whose son Bertrand was the first known case of NGLY1-CDG and helped inspire me to enter pediatric genetics.

Team Hydro

My family and I co-founded Team Hydro in 2008 in honor of my sister, Kate Finlayson, who developed hydrocephalus as an infant after a brain hemorrhage related to her premature birth. Though managed early, complications ultimately forced Kate to endure more than 100 brain surgeries before she passed away at 26. Her courage and optimism inspired us to start Team Hydro, which raises funding for hydrocephalus research through open-water swims — including our flagship swim from Alcatraz Island. As Chief Scientific Officer, I help oversee a research program that has distributed roughly $2 million across more than a dozen grants worldwide. Team Hydro partners closely with the Hydrocephalus Association for the execution of our research program.

teamhydro.org →