Translational Genomics Director

Compensation:

 $180,000 - $220,000 per year. You are eligible to a Short-Term Incentive Plan with the target at 20% of your annual earnings, terms and conditions apply.

Job Overview:

The Translational Genomics Director, Rare Diseases, at Ambry Genetics leads translational research and clinical liaison activities. The Translational Genomics Director works within the Research & Development department as a clinical and molecular subject matter expert to catalyze development of innovative genetic testing approaches. The Translational Genomics Director will educate the company, clinicians and policy makers on the clinical utility of Ambry’s existing and developing test menu and effectively convey Ambry’s mission to provide access to the most reliable and comprehensive testing. Externally, this individual engages clinical experts, guideline committees, patient advocacy groups and medical societies to promote the clinical utility of Ambry tests. Internally, this individual engages with Ambry’s scientific and medical advisory committees to advise the commercial team regarding future directions of Ambry’s product line in the context of the clinical needs of our medical community. 

Responsibilities include leading translational research and peer-reviewed publication of key data, analyzing genetic test data, and support clinical interpretation of diagnostic results.   The director will network with key organizations, present data at meetings, and publish research. They will act as key stakeholders in translational/innovation projects and connect R&D with other departments including Informatics, Clinical Diagnostics, and Medical Sciences. Additional duties include supervising research lab staff, training, and collaborating on projects relevant to Ambry’s innovation roadmap. The ideal candidate has a PhD or MD in Molecular or Human Genetics, with excellent communication and technical skills.

Essential Functions:

• Network and develop relationships with key organizations involved in Rare Diseases (e.g., GREGoR, UDN ACMG, ASHG), opinion leaders, publication and presentation of data and/or cases at local and national professional meetings, and other speaking engagements.
• Lead publication of translational research.
• Participate in the analysis of diagnostic molecular genetic test results performed at the Clinical and ATG Lab.
• Perform variant assessment of alterations analyzed at the ATG Lab, including evaluation of published literature, clinical data, and review of both functional and in silico data to provide accurate, thorough, and thoughtful clinical interpretation of results. Engages with external key opinion leaders, academic/medical societies and patient advocacy groups to promote the clinical utility of Ambry tests.
• Fosters relationships with potential collaborators and key opinion leaders.
• Effectively conveys Ambry’s mission to provide access to the most reliable and comprehensive test for patients and their family members in internal and external interactions.
• Works closely with Ambry’s scientific and medical advisory committees to advise the commercial team regarding future directions of Ambry’s product line to best suit the clinical needs of our medical community.
• Prioritizes translational research efforts based on urgency for sharing data, and feasibility with internal infrastructure.
• Performs translational research activities in study design, the development of research protocols and IRB submissions.
• Works closely with the marketing department to increase visibility of translational research at Ambry through all venues including conferences, website, and client interactions in the field.
• Other duties as assigned.

Qualifications

General: Experienced, comfortable, and effective at public speaking. Good organizational, time management, and communication skills. Sense of urgency and resourcefulness when needed and ability to meet challenging deadlines. Able to assert own ideas and persuade others through effectively consolidating, evaluating, and presenting relevant information.

• 10+ years of technical knowledge of laboratory testing and terminology.
• Capable of excelling within a team environment.
• Capable of taking on additional projects with little to no supervision.
• Ability to communicate effectively, attention to detail, ability to cross-reference information, ability to prioritize work, telephone skills, computer skills, working knowledge of standard office equipment (computers, printers, fax machines, phone systems, office software, and internet).

Education and/or Experience:

• PhD in Molecular Genetics, Human Genetics, or equivalent combination of education and experience.
• Medical Degree with experience or background in molecular genetics or human genetics.

#L