Several clinical conferences, seminars, journal clubs, rounds, and other didactic sessions designed for all Medical Genetics Residents and faculty are provided during the last year:
Clinical Genetics Patient Conference. This conference is held weekly under the direction of Dr. Wynshaw-Boris and attended routinely by Drs. Rauen, Packman, Nussbaum, and Slavotinek. The conference is a formal review of the patients evaluated that week in various Genetics Clinics and in-house consultations. The residents present the patients with the history and pertinent physical findings (including photographs when appropriate). Interesting cytogenetic and prenatal diagnosis results of the past week are also discussed, and the clinical fellow for that month is responsible for presenting and leading the discussion on recent inpatient consultations of note. The subsequent discussion is rigorous, and includes issues of differential diagnosis, disease biology, diagnostic testing, treatment, genetic counseling and basic science correlates. In this forum, the trainee gains experience in organizing and more formally presenting medical genetic information, in leading the interactive discussions that ensue, and in addressing the questions and problems that arise in these discussions. Over the years, this conference has been a hub for medical care providers interested in clinical genetics, from UCSF and nearby medical centers. Full and part-time members of the core clinical genetics faculty, physician and non-physician post-doctoral trainees, genetic counselors, interested graduate students, and medical students and house officers rotating through medical genetics all attend this conference. An additional half-hour each week is devoted to didactic presentations on topics or journal articles of particular interest to the attendees. Presentations are made by all attendees (residents, fellows, faculty, genetics counselors, and students).
Biochemical Genetics Conference. This conference, led by Dr. Packman, is held several days before each of the monthly Neurometabolic Clinics. The Pre-Clinic Conference is attended by physician and non-physician trainees, by the genetic counselors specializing in biochemical genetic disorders, and by the genetics nutritionist. The clinic cases are presented by the fellows, and there is discussion of the biochemical and neurologic aspects of the disorders, and of diagnostic evaluations and management.
Clinical Genetics Rounds. This monthly conference, organized by Dr. Robert Nussbaum, focuses on current problems in clinical genetics. The goal is to bring together clinicians and researchers, be they physicians, Ph.D. Scientists, Genetic Counselors involved in research in human genetics and care of patients with genetic disorders. Examples of topics include interesting and informative cases from which we could all learn by thinking about the research problem or the clinical dilemma highlighted by the cases, results from one's own ongoing clinical or translational research project, or a Journal club presentation at which the presenter leads a session in which attendees share a particularly good review of a topic that has seen substantial progress recently or a recent and exciting original publication that makes an important advance in clinical genetics. Recent sessions have included the following topics: “Ras signaling pathways in disease”, “Prenatal diagnosis of X chromosome abnormalities”, “Agenesis of the corpus callosum, what you need to know and what you might say to your patients", “Congenital absence of the diaphragm”, “Obesity”, “Anderson-Tawil syndrome”, “Recent developments in hereditary cancer”, “tailoring human stem cells to your patient”, and “drug-induced long QT syndrome”.
Neurogenetics Seminar. This conference is held monthly, under the direction of Dr. Bruce Miller of the Memory and Aging Center (MAC). Drs. Miller and Packman organized this seminar series to bring together members of the Adult Neurology MAC and Movement Disorders groups, with members of the Pediatrics Neurometabolic Program. At the conference, a formal seminar on a research topic, or recent topic or paper of interest, is presented by faculty members or fellows of the adult and pediatrics groups, in rotation. The conference is attended by medical genetics and neurology trainees, faculty in clinical and basic human genetics, faculty in child and adult neurology, and genetic counselors, psychologists, and staff members of the two groups. Recent seminars have included talks on: sub-telomeric cryptic translocation screening in patients with neurodevelopmental delay of unclear etiology; non-Parkinson dystonia syndromes; the molecular genetics of neurodegeneration with brain iron accumulation; biochemical genetic disorders causing adult-onset dementias; and modifier genes and genetic complexity in Mendelian inborn errors. In the long term, it is hoped that this series will constitute an academic setting that will lead to faculty collaborations in educational endeavors and research, and eventually lead to the development of a formal neurogenetics training program.
NF/Ras Clinic Conference. Trainees in medical genetics attend the NF/RAS clinic, led by Dr. Kate Rauen. Dr. Rauen holds a conference discussing patient from that clinic that interfaces with the Cancer Risk Program, and meets every 2-3 months.
Tutorials. Trainees in medical genetics participate in biweekly tutorials in biochemical genetics, led by Drs. Packman. The format is interactive, and includes didactic presentations (by the trainees and by the preceptors), discussions of important topics or concepts, and journal club presentations.
Prenatal Diagnosis Meeting. This weekly meeting is led by Dr. Rauen, and is attended by faculty and residents of the Reproductive Genetics Group, genetic counselors, and medical genetics trainees during their Prenatal Diagnosis rotation. At this meeting, recent complicated cases are reviewed.
Fetal Treatment Meeting. Neonatologists, surgeons, radiologists, perinatologists, and geneticists attend this daily meeting. Medical genetics trainees who are in their Prenatal Diagnosis rotation may attend this meeting, at which complicated ultrasonographic findings are reviewed, and prenatal treatment options and protocols are discussed. |
