Associate Director, Human Genetics Program
MS, Sarah Lawrence College, Human Genetics. BS, University of Connecticut School of Allied Health Professions. Genetic Counselor [ABGC]. Advanced Human Genetics Seminar. SLC, 2002-
This seminar in contemporary human genetics spans several levels of biological organization: the genetics of cells, individuals, families, and populations. Topics include pedigree analysis, cytogenetics, molecular biology of DNA/RNA synthesis and expression, epigenetic regulation of genetic loci, mitochondrial inheritance, complications and exceptions in pedigree analysis, diagnostic techniques of molecular genetics, mutations and polymorphisms, linkage and gene discovery, multifactorial inheritance, risk estimation, Hardy-Weinberg equilibria, Bayesian calculations, population genetics, lod scores, malformation/deformation syndromes and sequences, and cancer genetics.
This course is a continuation of Advanced Human Genetics I
This practicum, a co-requisite of the Advanced Human Genetics seminar, is designed to provide students a series of workshops dealing with topics related to human genetics and genetic counseling. A more practical approach is emphasized here, applying knowledge acquired in Advanced Human Genetics, as well as in other courses. Some workshops will be facilitated by the Advanced Human Genetics instructor, while others will involve guest lecturers. Topics include cytogenetics, pedigree calculations, Bayesian analysis, molecular techniques, maternal serum screening, hemoglobinopathies, teratology, and cancer genetics.
This second-year practicum trains graduate students in genetic counseling case management and psychosocial counseling. Behind two-way mirrors, students elicit the emotional and psychosocial needs of a client, couple, or family seeking genetic counseling for any of a variety of hereditary disorders. The practicum provides students the chance to work with the client(s) in an atmosphere where taking risks and trying different approaches is encouraged. Students further practice the choice of vocabulary to explain complex genetic phenomena to clients who may have no formal training in the sciences. In January of the second year, each student prepares an oral presentation on a randomly selected, clinical, genetic counseling case. The oral presentation is made before a panel of clinical geneticists, genetic counselors, and faculty of the Human Genetics program. During the presentation, the student is expected to detail the genetic, medical, and psychological issues surrounding the case, to describe in full her or his case management, and to elicit the psychosocial needs of the client(s). The objective of the exercise is to assess the student’s ability in case management and integration from initial referral to follow-up, including research, psychosocial assessment, counseling issues, and support services. It serves to identify the areas in which the student needs to focus during the last academic semester and clinical rotations.