The Assistant Laboratory Director is responsible for assisting the Laboratory Director in managing the biochemical and genetics laboratory at the Clinic for Special Children (CSC). This position is a blend of hands-on laboratory work, data analysis, and scholarly work. The Assistant Laboratory Director would develop and validate new clinical assays, follow existing protocols to run existing assays (ex: amino acid analysis by HPLC, Sanger DNA sequencing, NGS on Illumina platforms, targeting variant testing by melting curve analysis), and write clinical laboratory reports. In addition, this position would apply bioinformatic techniques to data sets generated from whole genome or exome sequencing to attempt to determine pathogenicity of variants in patient cases in collaboration with CSC’s clinical and research operation teams. The Assistant Laboratory Director would also be expected to actively collaborate on clinical research and collaborate to publish in peer reviewed journals.
PhD in Biology, Chemistry, Biochemistry, Microbiology or other related degree; or MD/DO degree
Board certification from American Board of Medical Genetics and Genomics (ABMGG) in Clinical Genetics and Genomics, Clinical Biochemical Genetics, or Laboratory Genetics and Genomics is strongly preferred.
Experience managing or working in a CLIA certified clinical laboratory is preferred
Experience with rare genetic disorders
Experience designing, executing, and publishing clinical research studies
Experience designing and troubleshooting novel genetic and biochemical assays
Experience with whole genome and/or whole exome sequencing data analysis, bioinformatics, and variant interpretation
Knowledge of genetics, biochemistry, laboratory techniques, laboratory methods, and the ability to follow written protocols
Ability to communicate clearly to medical professionals, families and other professional staff
Proficiency in oral and written communication skills
Proficiency in MS Office, Apple OS, email, and scheduling software
Commitment to Clinic for Special Children’s mission and values
At the Clinic for Special Children, genomic research is used to provide early diagnosis, treatment, and counseling. Research not only improves the quality of care, it is what makes us so unique in the medical world. It allows us to be effective at identifying and treating complicated, often misunderstood genetic disorders. A translational philosophy is essential to fulfilling our mission to provide timely, affordable, and effective health care to make a difference in the lives of the genetically vulnerable families we serve. For us, science is motivated by our respect for the humanity of patients. We blend our passion and expertise in engaging a unique patient population with some of the most complex medical and genetic issues. We are at the forefront of medical care, scientific discovery, and community health advocacy. Our process reflects the importance of recognizing the interconnected nature of what we do as scientists and medical professionals to those seeking genomic care. We provide primary care to the most genetically vulnerable among us. Each new patient appointment is approximately 2 hours. We obtain a detailed medical and genetic history of the patient and their family t...o provide the best medical care. We work with families to determine the genetic cause of disease using our on-site biochemical and genetic laboratory. Once a genetic cause is identified we then work with an extensive network of collaborators to investigate the disorder at the molecular level. Research is a tool to relieve suffering and improve the quality of life for patients. Research allows us to find treatments which can guide effective, affordable, and better care for patients and their community.