Statistical and clinical consulting for biomedical research with a passion for precision medicine and women’s health

Rebecca Signer, PhD, MS, CGC · Principal Consultant and Founder

I’m a PhD statistical geneticist and board-certified genetic counselor. I help research teams, startups, and healthcare organizations carry science from raw data to the clinic.

Services

Clinical research and biostatistics

From study design to final publication, for patient groups of any size.

I have worked across patient population types ranging from “n of 1” rare disease and clinical trials to large scale international consortia for common, complex diseases. From study design to final publication, I help with all aspects of the clinical or computational research project. This includes clinical and statistical research design, patient population estimation, consenting and data collection strategies, data-wrangling and analysis of healthcare and laboratory measures, scientific figure generation, and manuscript writing.

Bioinformatics, multi-omics, and diagnostics

Hands-on genomic analysis from someone who has returned results to patients.

I’m a hands-on programmer who has also returned genomic results to hundreds of patients across specialties, so I understand both how the data is built and what the results mean for the people receiving them. I offer expertise derived from clinical, laboratory, and research experience and can create diagnostic genomic workflows, analyze and interpret clinical genomic data, and employ multi-omic techniques to assist in clarifying variant pathogenicity.

Novel statistical and machine learning approaches

Methods built for how biology exists: interactive, messy, and high-dimensional.

Biology does not fit into a standard linear equation – health is determined by the complex and interactive relationships of genes, environment, and chance. Health insights are also often hampered by missing data, bias, and high dimensionality. I develop and deploy statistical and machine learning approaches that reduce dimensionality, predict outcomes based on interactive effects, identify group or hierarchical structural effects, model non-linear network effects, and incorporate prior knowledge with Bayesian statistics.

Genetic counseling, education, and precision medicine workflows

Bringing new genomic science to clinicians, the public, and investors.

I am trained in scientific communication and serve to educate clinicians and the general public about new diagnostic and scientific discoveries through talks, educational materials, and seminars. From my clinical genetic counseling experience, I understand what a clinician wants from a diagnostic or medical product and can create processes and pitches for start-ups in the process of expanding to the clinic. Research moves quickly, and clinicians are the ones bringing it to the public; I help make sure they’re ready.

How engagements work

Every project is different, so I scope each one with you. I take on defined projects with a set deliverable, hourly support for a specific question, and ongoing collaboration for longer research programs. Send me a short description of what you need and I’ll reply with a proposed plan and a quote.

Expertise and publications

The work behind each service. The full list of 40+ publications is on Google Scholar.

Clinical research and biostatistics

Professional experience

  • Lead Study Coordinator, Undiagnosed Diseases Network (NIH-funded) UCLA clinical site · 2018–2020
  • Clinical Research Coordinator, Carbaglu inpatient clinical trial Pediatric Genetics, UCLA · IRB, site audits, and consenting · 2017–2018
  • Clinical Research Coordinator, Longitudinal study of urea cycle disorders Pediatric Genetics, UCLA · 2017–2018
Selected publications 1

Bioinformatics, multi-omics, and diagnostics

Selected publications 4

Genetic counseling, education, and precision medicine workflows

Professional experience

  • Co-Chair (elected), Psychiatric Special Interest Group National Society of Genetic Counselors · 2024–present
  • Member, UCLA Genetic Counseling Master’s Program Curriculum Committee 2017

Talks

  • Invited speakerPsychiatric Genomics: Empiric Risks, Research Approaches, and Convergence with Rare Disorders National Society of Genetic Counselors Webinar Series · 2025
  • Genetics for Pediatric Nurse Practitioners UCLA School of Nursing · 2019 and 2020
  • The Medical Genetics Evaluation: A Team Approach with Dr. Wayne Grody · UCLA David Geffen School of Medicine · 2018
  • Genetic Counseling in the Craniofacial Clinic UCLA School of Dentistry · 2017
Selected publications 1

Work in understudied conditions that disproportionately affect women

Talks

  • Oral presentationSex- and Disorder-Specific Associations of Eating Disorders with Metabolic and Hormonal Biomarkers International Conference on Eating Disorders · 2025
Selected publications 2

About

Pixie Genomics exists to make science useful, safe, and available to everyday people. Clinical translation is at the core of the work: a product that makes it to market, a research finding that gets published, stakeholders who understand the underlying science, and people empowered by access to health knowledge.

I began in clinical genetics at UCLA, where I quickly learned that rare disease occurs every day and, taken together, is not so rare at all. Yet it remains underserved, because these patients are so rarely represented in pharmaceutical trials. The clinic also highlighted how much we don’t know, and how many patients (who are so often women) live with chronic but undiagnosed diseases. I went on to lead the UCLA clinical site of the NIH-funded Undiagnosed Diseases Network, coordinating physicians, bioinformaticians, researchers, and patients across UCLA, the National Institutes of Health, and the Harvard coordinating center.

Those clinical experiences sparked a passion for research, and I completed a PhD in computational and statistical genomics at the Icahn School of Medicine at Mount Sinai. Research is where we get the opportunity to discover and thereby widen access to science to more individuals in need. My doctoral work focused on the interactive effects of genes and environment in eating, metabolic, and psychiatric disorders, and my work in eating disorder and chronic pain cohorts reflects my underlying passion for understudied disorders that affect women.

Most statisticians haven’t sat across from a patient, and most clinicians don’t build advanced statistical models. I’ve done both, across more than 40 peer-reviewed publications in rare disease, biobank-scale genomics, and machine learning. I believe the best analysis comes from understanding where the numbers come from and who they’ll affect. When you work with me, you get rigorous methods, honest interpretation, and results explained clearly to whoever needs them, whether that’s a statistician, a clinician, or a board.

Let’s talk

Have a project in mind, or not sure yet whether you need a consultant? Send me a short email with what you’re working on, your timeline, and what kind of data you have. I’ll reply within three business days.

rebecca.signer@pixiegenomics.com

Based in Colorado, working with teams anywhere.