Section 1: Introduction to Classical Cytogenetics (online)
Cytogenetic tools used for research and clinical purposes for varied applications including mapping genetic sequences and identifying genetic disorders. Students will be introduced to essential techniques and secret tricks of the trade for chromosomal analysis within the primary application of detecting chromosomal disorders including process of culture initiation and harvesting, slide preparation, and G-banding techniques for karyotyping. Specialized stains and processes to elucidate specific chromosome structures or functions will be covered with an overview of the transmitted and phase-contrast applications needed on an upright and inverted microscope. Not open to students who have completed Section 04. Weeks 1- 5 asynchronous class, 1-credit online “lab” class; estimated time online 5-8 hrs/week 8/29/2022-9/30/2022
Instructor: Judy Brown, PhD, Director, Health Care Genetics Master’s Degree Program
Section 2: In situ techniques and epifluorescence microscopy (online)
Applications of in situ hybridization techniques to detect and localize sequences on chromosomes or tissue sections for the diagnosis of cytogenetic abnormalities, tumor biology, gene amplification and/or gene mapping. Topics include probe design and selection, principles of hybridization, specialized approaches, and epifluorescence microscopy. Pre-requisite AH 5720-01 or AH 5720-04 . Weeks 6-9 1-credit online “lab” class estimated time online 6-8 hrs/week 10/3/2022-11/4/2022
Instructor: Judy Brown, PhD, Director, Health Care Genetics Master’s Degree Program
Section 3: Genomics data in the clinical laboratory (online and in person)
An introduction to bioinformatics for the design and/or analysis of diagnostic genetic tests. Topics covered include literature and protocol searches, primer design, probe selection, sequence, variant and data analysis. Databases examined will include Gene Tests, OMIM, Mitelman, CGAP, PubMed, NCBI, and the UCSC genome browser and others as appropriate.
Instructors: Cara Statz, PhD, Clinical Analyst, Jackson Laboratory for Genomic Medicine
Section 4: Chromosome analysis 1 (online)
The study of human chromosomes including banding, chromosome identification, polymorphic variation, structural and numerical abnormalities, determination of band level, and the International System for Human Cytogenetic Nomenclature.
Instructor: Judy Brown, PhD, Director, Health Care Genetics Master’s Degree Program
Section 5: Chromosome analysis 2 (online)
Analysis of human, mouse and other model system organism karyotypes. Pre-requisite: Chromosome analysis 1.
Section 6: DNA diagnostics
Practical experience with molecular techniques for the diagnosis of genetic disease. The student will perform genomic nucleic acid extraction, resolution and detection, analysis and characterization of nucleic acids, and nucleic acid amplification. Laboratory procedures will adhere to clinical laboratory quality control and assurance guidelines. Principles delivered online and in-person (1 credit) with varying format of in-person laboratory delivery (weekend and/or evening, or week-long semester break).
Instructor: Judy Brown, PhD, Director, Health Care Genetics Master’s Degree Program or TBA
Section 7: Principles of Mammalian Cell Culture (online or hybrid course)
The course introduces students to the history, theory, and techniques of maintaining live cells in suspension and adherent culture. Main topics covered include safety considerations in cell culture, aseptic techniques, identification and eradication of culture infections, culture initiation, tissue dissociation methods, maintenance, subculture, and harvesting. Cell viability, media design, cryopreservation and resuscitation of cells, as well as metaphase preparation, banding and chromosome analysis will also be highlighted. (2) credits online for principles (3) credits to include one-week of laboratory. 1 credit.
Instructor: Judy Brown, PhD, Director, Health Care Genetics Master’s Degree Program
Section 8: Microarray Cytogenetics (online)
Indications, applications, processes and interpretation of chromosomal microarray technology. Strongly suggested prior class: AH 5720 Section 1, or 4. Weeks 10-14 1-credit online “lab” class estimated time online 6-8 hrs/week 11/7/2022 – 12/9/2022
Instructor: Judy Brown, PhD, Director, Health Care Genetics Master’s Degree Program or Brigette Brown-Kipphut, Agilent Technologies
Section 11: Next Generation Sequencing
The advent of Next Generation Sequencing (NGS) technologies has transformed how genetic research and clinical testing is being performed. Today, a human genome can today be sequenced in very short time for costs lower than ever expected allowing scientists and clinicians unprecedented possibilities for investigating human traits, mutations, and diseases. Similarly, whole bacterial communities and their interplay with the environment or human microbiome can be studied, unravelling novel enzymes and organisms. (1) credit online for principles (3) credits to include one-week of laboratory.
Instructor: online segment: Dr. Judy Brown
Wet-lab Instructors:
Bo Reese, Ph.D., Scientist, Center for Genome Innovation, UConn Storrs or
Brigette Brown-Kipphut, Agilent
Section 13: Cancer Panels and Tumor Profiling
Profiling somatic mutations of genes to inform about tumor evolution, prognostics and treatment as a tool in clinical oncology. In silico analysis of input candidates for panel design, evaluation of utility of commercially available cancer gene panels, and review of questions to consider when determining if genomic tumor testing is an appropriate method. Testing assessment will include sensitivity, sample requirements, limitations, panel types, and targeted versus genome profiling. Federal regulations, clinical actionability, as well as variant and tumor classifications will be reviewed. Online and in-person weekend module training.
Instructor: Cara Statz, PhD, Clinical Analyst, Jackson Laboratory for Genomic Medicine.