Research Scientist 1 - Genomic Medicine Laboratory EOA # 2025-43

New York State; Richmond; On-site; GBP 30,000 - 40,000; Full time

Job summary

A leading research facility is seeking a qualified candidate for the Research Scientist I position in their Genomic Medicine Laboratory. The role focuses on studying rare genetic syndromes and involves managing a mouse colony, running complex experiments, and collaborating with institutions like Jackson Laboratory. A strong background in molecular biology or biochemistry is essential.

Qualifications

• Master's degree preferred in a biological science with a strong molecular biology or biochemistry focus.
• Bachelor's degree and two years of professional research experience in an appropriate field.

Responsibilities

• Focus on a rare genetic syndrome involving mutations in specific genes.
• Conduct molecular biology and pathophysiology studies.
• Manage the mouse colony with veterinary staff assistance.
• Run samples on capillary electrophoresis and PCR techniques.

Skills

Molecular biology

Biochemistry

Data analysis

PCR techniques

Capillary electrophoresis

Education

Master's degree in biological science

Bachelor's degree

Tools

Qiagen column preparation

QiaXcel capillary electrophoresis machine

Excel spreadsheets

Job description

Duties Description

The New York State Institute for Basic Research is seeking a qualified candidate to fill a full time Research Scientist I position in our Genomic Medicine Laboratory. The selected candidate will be working on projects which include studying a rare disease syndrome involving mutation in genes involved in amino-terminal acetylation of proteins.

Responsibilities

• This position for a Research Scientist will be focused on a rare genetic syndrome involving mutations in the genes NAA10 and NAA15, involved in the amino-terminal acetylation of proteins.
• As part of our long-term focus on the mechanistic dissection of NTA, we will focus on detailed phenotyping of humans with mutations in the pathway, alongside a systems-level study of unique mouse models, including conditional alleles, using histologic and functional approaches to provide the first mechanistic insights into the role of NTA in cardiac development and mammalian physiology.
• Work with lab staff in continuing our analysis of a newly identified (ELife 2021 Aug 6) enzyme in the pathway, which we propose compensates for and prevents embryonic lethality in mouse models with mutations in NAA10. There is an active collaboration on this project with Jackson Laboratory (JAX) in Maine, USA.
• We will study the molecular biology and pathophysiology associated with NAA10- and NAA15-related disorders and the NTA pathway, as part of a sustained effort to understand the role of NTA in mammalian biology.
• Projects being worked on include mouse studies and collaboration with New York Stem Cell Foundation (NYSCF), Manhattan, USA, on characterization of induced pluripotent stem cells, primary cells, and / or downstream assays.
• Extraction of DNA from tissue specimens, using Qiagen column preparation procedure.
• Setting up polymerase chain reaction (PCR) as part of routine genotyping of samples.
• Running samples on a QiaXcel capillary electrophoresis machine and / or with agarose gels. Trouble-shooting of the instrument, with calls to Qiagen service center, may be needed.
• Interpreting data and assigning genotypes.
• Data entry, both manually and in an electronic spreadsheet.
• Analysis of data with tabulation of results in Excel spreadsheets.
• Communication with the project leader regarding prioritization of genotyping samples.
• Occasional procurement of tissue samples may be required, which will involve handling mice. This can also include microdissection using the stereomicroscope.
• Managing the mouse colony, with assistance from veterinary staff, including setting up matings and working with the PI and staff to characterize various phenotypes presenting in the mice.
• There are ongoing mass spectrometry experiments, which the new scientist can assist with. This includes working with Dr. David Bolton, who manages the Xevo G2-XS QTof Waters instrument.

Qualifications

Preferred qualifications: Master\'s degree preferred in a biological science with a strong molecular biology or biochemistry focus and one year experience.

Minimum Qualifications Non-Competitive: bachelor’s degree and two years of professional research experience in an appropriate field.

Substitutions: Master’s degree in an appropriate field may substitute for one year of experience, and an additional year of experience may substitute for another year of experience. Some positions may require additional credentials or a background check to verify your identity.