Lead development and deployment of AI-driven phenotyping pipelines using EMR and real-world data to define cohorts, extract features, and validate phenotypes. Integrate clinical, genomics, and biomarker datasets, build reproducible SQL/Python/R pipelines, apply statistical genetics and rare variant analyses, and improve data infrastructure to support Genetics-led programs.
Company Overview
Rhythm is a global, commercial-stage biopharmaceutical company committed to transforming the lives of patients living with rare neuroendocrine diseases. We develop medicines for previously untreatable or undertreated diseases. We recognize the courage it takes for patients and their caregivers to begin their journey of advocacy to find the answers they need. Their courage inspires us to challenge convention, ask bold questions and seek answers for them. Every day, we strive for excellence through our willingness to adapt, learn, and our tenacity to overcome barriers, together.
Opportunity Overview
We are seeking a highly motivated Associate Director of Bioinformatics within Rhythm's Research group to support of our clinical, regulatory, and scientific objectives in the rare neuroendocrine/obesity/metabolic disease therapeutic area. The successful candidate will have a strong background in biostatistics and genetics and will be responsible for integrative analyses across the obesity and metabolic disease therapeutic areas. A core focus of this position will be the development and implementation of algorithmic phenotyping approaches using electronic medical records (EMR) and real-world datasets, enabling robust patient stratification, cohort definition, and integration with genomics and biomarker data. This position is ideal for a technically strong investigator who thrives in a fast-paced environment and is motivated to apply and scale high-impact data science infrastructure alongside a growing team.
Responsibilities and Duties
Qualifications and Skills
This role can be remote or based out of our corporate office in Boston, Massachusetts. Rhythm operates in a hybrid-work model. Candidates applying must be willing and able to be in the Boston office in coordination with their department and business needs. This role may involve some travel.
More about Rhythm
We are a dynamic and growing global team spanning more than a dozen countries. At Rhythm we are dedicated to transforming the lives of patients living with rare neuroendocrine diseases by rapidly advancing care and precision medicines that address the root cause. Our team is passionate about expanding access to reach more patients and developing novel therapies for other rare neuroendocrine diseases, including congenital hyperinsulinism.
At Rhythm our core values are:
Inherent in our core values is the commitment to act ethically and with integrity in all we do.
Rhythm is an equal employment opportunity employer and does not discriminate against any applicant because of race, creed, color, age, national origin, ancestry, religion, gender, sexual orientation, disability, genetic information, veteran status, military status, application for military service, or any other class protected by state or federal law.
Headquartered in Boston, Rhythm is proud to have been named one of the Top Places to Work in Massachusetts.
Rhythm is a global, commercial-stage biopharmaceutical company committed to transforming the lives of patients living with rare neuroendocrine diseases. We develop medicines for previously untreatable or undertreated diseases. We recognize the courage it takes for patients and their caregivers to begin their journey of advocacy to find the answers they need. Their courage inspires us to challenge convention, ask bold questions and seek answers for them. Every day, we strive for excellence through our willingness to adapt, learn, and our tenacity to overcome barriers, together.
Opportunity Overview
We are seeking a highly motivated Associate Director of Bioinformatics within Rhythm's Research group to support of our clinical, regulatory, and scientific objectives in the rare neuroendocrine/obesity/metabolic disease therapeutic area. The successful candidate will have a strong background in biostatistics and genetics and will be responsible for integrative analyses across the obesity and metabolic disease therapeutic areas. A core focus of this position will be the development and implementation of algorithmic phenotyping approaches using electronic medical records (EMR) and real-world datasets, enabling robust patient stratification, cohort definition, and integration with genomics and biomarker data. This position is ideal for a technically strong investigator who thrives in a fast-paced environment and is motivated to apply and scale high-impact data science infrastructure alongside a growing team.
Responsibilities and Duties
- Design phenotyping pipelines that leverage EMR/EHR and real-world data to define disease cohorts, endpoints, and longitudinal outcomes.
- Develop scalable approaches for cohort identification, feature extraction, and phenotype validation, including rule-based and machine learning methods.
- Maintain high-throughput rare variant curation and classification models.
- Execute the design, development, and deployment of data analysis pipelines, statistical models, and predictive tools to support genetics-led programs.
- Lead hands-on integration of clinical, EMR, genomics, and biomarker datasets, enabling multi-modal analyses.
- Build and maintain reproducible workflows for data ingestion, harmonization (e.g., coding systems, ontologies), QC, and analysis (SQL, Python, R).
- Apply statistical genetics and advanced analytics to link phenotypic definitions with genetic signals, including rare variant analyses.
- Drive improvements in data infrastructure and phenotyping frameworks to support team expansion and increased dataset complexity.
Qualifications and Skills
- Ph.D. in Biostatistics, Neuroscience, Genetics, or related quantitative field.
- ~5+ years of relevant experience in biotechnology, pharmaceuticals, or healthcare analytics.
- Experience with neuroendocrine, obesity/metabolic-related biology and datasets.
- Experience applying machine learning and AI models to real-world and clinical datasets, including model development, evaluation, and deployment in production or near-production settings.
- Strong hands-on expertise in SQL, Python, and R, with experience building production-quality data pipelines.
- Experience with variant calling pipelines, variant interpretation and ACMG rare variant classification.
- Demonstrated experience in EMR/EHR and real-world data analysis (e.g., UK Biobank, All of Us) including cohort building and longitudinal data modeling.
- Proven track record in algorithmic phenotyping, including use of coding systems (ICD, CPT, SNOMED), clinical ontologies, and feature engineering.
- Familiarity with broader bioinformatics/multi-omics methodologies including RNA-seq, methylation analysis, long-read sequencing would be advantageous.
- Strong problem-solving skills and ability to operate independently in a fast-paced, execution-focused environment.
- Excellent communication skills with the ability to clearly present complex analytical outputs to technical stakeholders.
This role can be remote or based out of our corporate office in Boston, Massachusetts. Rhythm operates in a hybrid-work model. Candidates applying must be willing and able to be in the Boston office in coordination with their department and business needs. This role may involve some travel.
More about Rhythm
We are a dynamic and growing global team spanning more than a dozen countries. At Rhythm we are dedicated to transforming the lives of patients living with rare neuroendocrine diseases by rapidly advancing care and precision medicines that address the root cause. Our team is passionate about expanding access to reach more patients and developing novel therapies for other rare neuroendocrine diseases, including congenital hyperinsulinism.
At Rhythm our core values are:
- We are committed to advancing scientific understanding to improve patients’ lives
- We are inspired to tackle tough challenges and have the courage to ask bold questions
- We are eager to learn and adapt
- We believe collaboration and ownership are foundational for our success
- We value the unique contribution each individual brings to furthering our mission
Inherent in our core values is the commitment to act ethically and with integrity in all we do.
Rhythm is an equal employment opportunity employer and does not discriminate against any applicant because of race, creed, color, age, national origin, ancestry, religion, gender, sexual orientation, disability, genetic information, veteran status, military status, application for military service, or any other class protected by state or federal law.
Headquartered in Boston, Rhythm is proud to have been named one of the Top Places to Work in Massachusetts.
Rhythm Pharmaceuticals Boston, Massachusetts, USA Office
222 Berkeley Street, Boston, MA, United States, 02116
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