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About the MacArthur Lab

We are a tight-knit research group jointly based as Massachusetts General Hospital and the Broad Institute of Harvard and MIT, and leveraging the largest genomic data sets in the world and cutting-edge analysis methods to make sense of human genetic variation. We’re committed to open data and open-source code, as well as experimenting with new methods of communication. Working with us is a chance to learn from experts in computational biology, large-scale genomics, variant interpretation, software development and clinical genomics, as well as to make a difference to the lives of hundreds of families affected by rare diseases.


Clinical Genomic Variant Curator: Rare Disease Group

This position is an opportunity to play a critical role in the development of large resources to improve the understanding of the function and disease impact of human genetic variants. The Broad Institute is accumulating data sets of genetic variation of unprecedented scale, covering a wide range of human ancestries, technologies, and disease areas, and spanning hundreds of thousands of people. This role would involve work on the Genome Aggregation Database (gnomAD; gnomad.broadinstitute.org), the world’s largest reference database of sequenced humans, led by Daniel MacArthur, and on the Broad’s Center for Mendelian Genomics, an NIH-funded collaborative venture focused on discovering new disease genes, and the Rare Genomes Project (https://raregenomes.org/), a direct-to-patient genome sequencing initiative providing diagnoses to rare disease families across the US, both co-led by Heidi Rehm and Daniel MacArthur. Our mission is to create open resources for scientists and clinicians, and to use these resources to improve rare disease diagnosis, discover new disease genes, understand the functional impact of genetic variation, and empower the basic and clinical genomics community worldwide.

We are searching for an enthusiastic variant curator to research and classify genetic variants identified through gnomAD and our rare disease genomics efforts. This will involve using ClinGen’s variant curation tool, as well as other third party tools, and internally-developed software to determine a variant’s pathogenicity. The curator will also have the opportunity to use our in-house software to analyze and interpret genetic variation in families to diagnose patients with rare disease. In addition, he/she will work in close collaboration with other members of our team, which includes analysts, genetic counselors, clinicians, computational biologists, software engineers, and project managers.

The candidate should have a strong background in genetics or a related discipline, have fluency in human disease genetics, have good attention to detail and be able to adapt quickly and be part of a cross-functional team in a rapidly changing environment.

This is an opportunity to work at the interface between large-scale genomics, informatics, and disease genetics, and to have an impact on the lives of thousands of families affected by rare, severe diseases.

Primary Responsibilities:

    • Perform clinical correlation of gene/variant with patient phenotype, scientific literature review, and variant classification using ACMG criteria.
    • Directly analyze exome and genome data for identification of disease-causing variants, using existing and newly-developed analysis tools through in-house software (seqr), for hundreds of rare disease families.
    • Present results and progress at regular team and other Broad Institute meetings.
    • Manage interactions with several research, industry and clinical collaborators to facilitate information exchange regarding variant classification.
    • Participate in education and mentorship of other staff and collaborators through direct interaction and presentations.
    • Involvement in abstract, figure, and manuscript preparation and submission, and presentations at local or national professional conferences.

Characteristics and Qualifications:

    • Undergraduate degree in biology, genetics, or related field OR Master’s degree in Human Genetics OR other relevant discipline or equivalent experience required.
    • Basic understanding of human genetics and next-generation DNA sequencing.
    • Familiarity with genomic data, tools and databases.
    • Excellent communication, both written and verbal.
    • Outstanding oral presentation skills.
    • Demonstrated attention to detail and analytical skills.
    • Excellent communication skills.
    • Strong organization and time management skills.
    • Highly collaborative and able to work well in a team.
    • Previous experience in variant interpretation is advantageous but not required.
    • Candidates who can make at least a two-year commitment preferred.

Please apply via Broad Institute careers site.

Clinical Project Coordinator: Rare Disease Group

The Broad Institute’s Rare Disease Group is focused on applying genomic technologies to diagnose families affected by rare genetic diseases. To assist with these efforts, we are seeking an organized and motivated Clinical Project Coordinator (CPC) to work on the Rare Genomes Project (RGP) (http://www.raregenomes.org) within the Broad Institute’s Rare Disease Group. This project is led by Drs. Daniel MacArthur and Heidi Rehm.

The RGP is our direct-to-patient genome sequencing initiative. Our mission is to partner directly with patients, families, advocates, and clinicians, to accelerate the rate of rare disease diagnosis and increase patients’ access to genomic research. The CPC will ensure that these efforts run smoothly and effectively.

In this role, your primary responsibility will be to interact with the families that participate in our project. The successful candidate will obtain families’ consent to participate and ensure that they have all materials needed to be an active and engaged participant. Due to time zones and to accommodate family schedules, we are particularly interested in candidates who have flexibility to be able to periodically take calls from participants during evenings or weekends when needed. You will work with a diverse team of physicians, genetic counselors, analysts, software engineers, computational biologists, and investigators, among others on our team, to help rare disease families from around the country. The ideal candidate for this position is detail-oriented, comfortable talking with patients and families, enthusiastic about clinical research, and has a desire to continuously improve processes.

Primary Responsibilities:

    • Consent project participants through phone and video interactions.
    • Prepare and execute required consent and other regulatory documentation.
    • Schedule appointments with participating families who have signed up to participate online.
    • Track samples and data collected and generated as part of the project.
    • Obtain, compile, and enter demographic, clinical, and necessary study data into a database.
    • Assist with requesting medical records from participants, extract information from their medical records, and enter information into a database.
    • Maintain confidential, accurate, and detailed study participant records.

Characteristics and Qualifications:

    • Bachelor’s Degree in a biological science and/or coursework in genetics.
    • Experience in a clinical research or other healthcare setting is preferred; prior consenting experience appreciated but not required.
    • Must be detail oriented and extremely self-motivated, with the ability to effectively manage time and prioritize workload.
    • Excellent organization, communication, and time management skills required.
    • Strong interpersonal skills with ability to effectively interact with families and all levels of staff and external contacts.
    • Ability to work both independently and as part of a multidisciplinary team in a fast-paced and challenging work environment, and respond to shifting priorities.
    • Must possess a high level of initiative.
    • Must have computer skills, including the use of Microsoft Office and Adobe Acrobat.
    • Experience working with data tracking and organization preferred.
    • Flexibility to work some atypical hours preferred.
    • Candidates who can make at least a two-year commitment preferred.

Please apply via Broad Institute careers site.

Software Engineer: Rare Disease Genomics

Join a team that’s building open-source web-based decision support tools to dramatically accelerate the pace of diagnosis for families affected by rare genetic conditions. Our platform seqr (github.com/macarthur-lab/seqr) is used by an international consortium of collaborating clinicians, researchers, and industry partners, and significantly improves their ability to search through large genetic datasets and make discoveries and diagnoses. seqr is core to our efforts both in the Rare Genomes Project (raregenomes.org) and the Broad Center for Mendelian Genomics (cmg.broadinstitute.org), and has already enabled us to provide genetic diagnoses to more than 1,000 rare disease families. We are now looking for a full-stack software engineer that will help with the next phase of this project.

Your primary responsibilities will include designing and implementing new features. This may include developing intuitive visualizations and user interfaces (using javascript, React.js), integrating new kinds of datasets, and designing new APIs and database schemas (in python and Django, elasticsearch and PostgreSQL). We welcome applications from diverse backgrounds and experience levels. Knowledge of genetics or biology is preferred but not required. Above all, the ideal candidate will have strong engineering skills, a desire to learn new domains, and the enthusiasm and ability to contribute to multiple aspects of seqr development.

Requirements:

    • BS or MS degree in Computer Science or other scientific discipline.
    • Experience delivering clear, well-designed software.
    • Interest in working with a wide variety of technologies and on diverse problems.
    • Excellent communication skills and ability to work with users.
    • Experience with web-based application development in python and javascript is required.
    • Experience with Django, React.js, Redux, SQL, elasticsearch, Google Cloud Platform and Kubernetes is preferred.
    • Familiarity with genomics and DNA sequencing data analysis is a plus.

Please apply via Broad Institute careers site.


Post-doctoral Fellows

We are looking for postdoc candidates with backgrounds in computational genomics or statistical genetics, ideally with direct experience in analyzing human sequencing data. Projects include identifying human knockouts, leveraging large human genetic data sets for drug target discovery, and improving the diagnosis of rare disease patients. Most importantly, we’re looking for people who are passionate about the translation of genomics into clinical practice, and have the right personality to work in a fast-paced and highly collaborative environment.

To apply, email Daniel with your CV.