Molecular and Medical Genetics Grand Rounds
Molecular and Medical Genetics Grand Rounds are designed to present and discuss topics related to genetic disorders, genomics, and clinical medicine. Our department is a composed of individuals working in clinical medicine and basic science; as such, both clinical and translational research topics are presented. During this series we hear presentations from clinical faculty, research faculty, clinical case presentations, and invited OHSU and outside speakers.
Molecular and Medical Genetics welcomes health professionals, OHSU alumni, OHSU employees, Researchers, and Students. This activity is open to the public.
Molecular and Medical Genetics Grand Rounds are currently being held virtually until further notice
Time: Thursdays, September through June, 9-10 am
Join Meeting: Webex
Password: MMGGrandRounds
Recording of previous sessions: Contact Madeline Wallace (wallamad@ohsu.edu) for recordings of previous MMG Grand Rounds
September 28, 2023
Cary Harding, M.D., Molecular and Medical Genetics, OHSU
October 5, 2023
Kory Keller, C.G.C., Molecular and Medical Genetics, OHSU
October 12, 2023
Cancer Genetics Case Presentation
October 19, 2023
Wojciech Wiszniewski, M.D., Ph.D., Molecular and Medical Genetics, OHSU
October 26, 2023
Metabolic Case Presentation
November 2, 2023
No Molecular and Medical Genetics Grand Rounds
November 9, 2023
Sherene Shalhub, M.D., M.P.H., Vascular and Endovascular Surgery, OHSU
November 16, 2023
No Molecular and Medical Genetics Grand Rounds
November 23, 2023
No Molecular and Medical Genetics Grand Rounds
November 30, 2023
Peds Onc Genetics Case Presentation
December 7, 2023
Caleb Rogers, M.D., Molecular and Medical Genetics, OHSU
December 14, 2023
Erika Jackson, M.S., C.G.C., Knight Cardiovascular Institute, OHSU
December 21, 2023
No Molecular and Medical Genetics Grand Rounds
December 28, 2023
No Molecular and Medical Genetics Grand Rounds
January 4, 2024
Adult Genetics Case Presentation
January 11, 2024
Amiee Potter, Ph.D., Knight Diagnostic Laboratories, OHSU
January 18, 2024
Susan Hayflick, M.D., Ph.D., Molecular and Medical Genetics, OHSU
January 25, 2024
Aaron Trimble, M.D., Pulmonary and Critical Care, OHSU
February 1, 2024
Marcela Riveros Angel, M.D., Molecular Pathology Fellow
February 8, 2024
Emily Higuchi, C.G.C., Molecular and Medical Genetics, OHSU
February 15, 2024
No Molecular and Medical Genetics Grand Rounds
February 22, 2024
Amelia Mulford, C.G.C., Molecular and Medical Genetics, OHSU
February 29, 2024
Mathew James Thayer, Ph.D., Department of Chemical Physiology and Biochemistry, OHSU
March 7, 2024
Amy Yang, M.D., Molecular and Medical Genetics, OHSU
March 14, 2024
No Molecular and Medical Genetics Grand Rounds
March 21, 2024
Janet Legare, M.D., Clinical Professor of Pediatrics, Divisions of Genetics and Development, Director Neuromotor Clinic and Director Midwest Regional Bone Dysplasia Clinic, University of Wisconsin School of Medicine and Public Health
March 28, 2024
No Molecular and Medical Genetics Grand Rounds
April 4, 2024
Molecular & Cyto Lab Case Presentation
April 11, 2024
No Molecular and Medical Genetics Grand Rounds
April 18, 2024
Pediatric Genetics Case Presentation
April 25, 2024
Timothy O’Brien, Ph.D., Molecular and Medical Genetics, OHSU
May 2, 2024
Prenatal Genetics Case Presentation
May 9, 2024
Allison Gregory, M.S., C.G.C., Molecular and Medical Genetics, OHSU
May 16, 2024
No Molecular and Medical Genetics Grand Rounds
May 23, 2024
Cristina Magallanes Hoyos, M.D., Molecular Path Fellow
May 30, 2024
Mina Tabrizi, M.D. Ph.D., Laboratory Genetics and Genomics Fellow
June 6, 2024
David Koeller, M.D., Molecular and Medical Genetics, OHSU
June 13, 2024
To Be Announced
October 6, 2022
Expect the Unexpected
Anna Dennis, M.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
Karen Kovak, M.S., C.G.C., Assistant Professor, Molecular and Medical Genetics, OHSU
Kory Keller, M.S., C.G.C., Assistant Professor, Molecular and Medical Genetics, OHSU
October 13, 2022
The Ambiguous Leukemia
Ibrahim Hajjali, M.D., Molecular Pathology Fellow, Molecular and Medical Genetics, OHSU
October 20, 2022
No Molecular and Medical Genetics Grand Rounds
October 27, 2022
No Molecular and Medical Genetics Grand Rounds
November 3, 2022
Reporting the unexpected: The laboratory’s perspective on incidental findings
Timothy O'Brien, Ph.D., Assistant Staff Scientist/NGS Analyst, Knight Diagnostic Labs, OHSU
November 10, 2022
OHSU HTC: Treatment and supportive care updates for individuals with hemophilia and other rare bleeding disorders
Mary Pat Bland, M.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
Kristina Haley, D.O., M.C.R., Associate Professor, Pediatrics, Division of Hematology and Oncology, OHSU
November 17, 2022
Caring for Transgender Patients: Where Surgery Meets Cancer Genetics
Jens U. Berli, M.D., Associate Professor, Plastic Surgery and Urology, OHSU
Emily Higuchi, M.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
Stephanie Goettl, M.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
Amelia Mulford, Sc.M., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
November 24, 2022
No Molecular and Medical Genetics Grand Rounds
December 1, 2022
What’s new in Pediatric Genetic Aortopathies
Jessica Kushner, M.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
December 8, 2022
Update from the Federal Advisory Committee on newborn screening (ACHDNC): Formula shortages and other metabolic genetic impacts
Laura Jaimes, M.S., R.D., Instructor, Molecular and Medical Genetics, OHSU
Sandra Van Calcar, Ph.D., R.D., Associate Professor, Molecular and Medical Genetics, OHSU
Sarah Viall, P.N.P., Associate Professor, Molecular and Medical Genetics, OHSU
December 15, 2022
Challenges of Variant Interpretation
Amiee B. Potter, Ph.D., Assistant Staff Scientist/ NGS Analyst, Knight Diagnostics Laboratory, OHSU
December 22, 2022
No Molecular and Medical Genetics Grand Rounds
December 29, 2022
No Molecular and Medical Genetics Grand Rounds
January 5, 2023
Genetics of hearing loss
Alaa Koleilat, Ph.D., Laboratory Genetics and Genomics Fellow, Mayo Clinic
January 12, 2023
No Molecular and Medical Genetics Grand Rounds
January 19, 2023
Pediatric Oncology Case Presentation
January 26, 2023
Kimberly Kripps, M.D., Assistant Professor, Molecular and Medical Genetics, OHSU
February 2, 2023
Keith Franke, M.G.C.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
February 9, 2023
Cytogenetics and Molecular Pathology
Yassmine Akkari, Ph.D.
February 16, 2023
Prenatal Genetics Case Presentation
February 23, 2023
Cytogenetics Lab Case Presentation
10-10:15 am
Following Grand Rounds (same link) please join for a presentation from
Molecular and Medical Genetics Med Student: Hiro Ross (they/them)
Presentation Topic: KBG syndrome
March 2, 2023
Sophie Means, M.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
March 9, 2023
No Molecular and Medical Genetics Grand Rounds
March 16, 2023
No Molecular and Medical Genetics Grand Rounds
March 23, 2023
To Be Announced
March 30, 2023
No Molecular and Medical Genetics Grand Rounds
April 6, 2023
Tuberous Sclerosis Complex: An Example of the Power of Genetics in Treating Human Disease
Hope Northrup, M.D., Professor and Division Director, Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, UTHealth Houston
April 13, 2023
Rodrigo Tzovenos Starosta, M.D., Ph.D., Division of Medical Genetics and Genomics, Washington University School of Medicine
April 20, 2023
Puneet Rai, M.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU
April 27, 2023
Metabolic Genetics Case Presentation
May 4, 2023
Meganne Leach, M.S.N., N.P., Assistant Professor, Pediatrics, Division of Neurology, OHSU
May 11, 2023
No Molecular and Medical Genetics Grand Rounds
May 18, 2023
Stephanie Dukhovny, M.D., Associate Professor, Obstetrics and Gynecology
Raphael Sun, M.D. FACS, FAAP, Associate Professor of Surgery, Division of Pediatric Surgery, OHSU
Andrew Chon, M.D., Assistant Professor, Obstetrics and Gynecology, OHSU
May 25, 2023
Adult Genetics Case Presentation
June 1, 2023
Tracy Funk, M.D., Associate Professor, Dermatology, OHSU
June 8, 2023
Joanna Wiszniewska, M.D., Pathology & Laboratory Medicine, Molecular and Medical Genetics, OHSU
June 15, 2023
Karen Kovak, M.S., C.G.C., Assistant Professor, Molecular and Medical Genetics, OHSU
September 30, 2021
The Healthy Oregon Project: Two Years of General Population Screening Results
Presented by Kelly Hamman, M.S., C.G.C., Assistant Professor, Molecular and Medical Genetics, OHSU
Learning objectives:
- Review The Healthy Oregon Project purpose and recruitment methods
- Review types of genetic test results reported by The Healthy Oregon Project
- Discuss changes to The Healthy Oregon Project gene panels and reporting
October 7, 2021
Monogenic Hypertension and the Discovery of the Potassium Switch
Presented by David Ellison, M.D., Professor of Medicine, Division of Nephrology and Hypertension, OHSU, Professor of Physiology and Pharmacology, OHSU
Learning objectives:
- High potassium intake reduces blood pressure and attenuates salt-sensitivity
- Mutations in the WNK signaling pathway, and its regulators, identify a novel form of monogenic hypertension (familial hyperkalemic hypertension or Gordon syndrome)
- WNK kinases activate electroneutral sodium chloride cotransport along the distal nephron, thereby limiting distal sodium delivery and consequently potassium secretion
- The distal convoluted tubule and connecting tubule, coupled with the adrenal gland, comprise a renal potassium switch that maintains homeostasis, and explains the beneficial effects of dietary potassium
October 14, 2021
Pediatric Genetics Cases: Isolated and Syndromic Hearing Loss
Presented by Anna Dennis, M.S., C.G.C., Jessica Kushner, M.S., C.G.C., Karen Kovak, M.S., C.G.C., and Kory Keller, M.S., C.G.C., Molecular and Medical Genetics, OHSU
Learning objectives:
- Explain the potential value of genetic testing to a parent who has a child who is hard of hearing or deaf
- Recognize at least three physical examination findings and/or family history features that indicate potential genetic etiology for hearing loss.
- List two criteria to evaluate when selecting which lab to send genetic testing
October 28, 2021
Pompe and Circumstance: Acknowledging Advancements in Managing Infantile Pompe
Presented by Terry Kho, M.D., Fellow, Molecular and Medical Genetics, OHSU, Pediatrics, OHSU
Learning objectives:
- Review the clinical and genetic features of Infantile-onset Pompe
- Understand how far we have come with treatment/management
- Understand where we are going with treatment/management
November 11, 2021
Premature Ovarian Insufficiency: the what, the who, and the what now
Presented by Elena Burnett, M.S., C.G.C., Hannah Raszka, M.S., C.G.C., and Molly Kornfield, MD, Prenatal Genetics, OHSU
Learning objectives:
- Participants will be able to describe the basic clinical evaluation and implications of a premature ovarian insufficiency diagnosis
- Review current POI related genetic testing practices, associated implications, and future directions
November 18, 2021
How much is an inch worth? An Update on Skeletal Dysplasia Clinic and New Potential Treatments
Presented by Kory Keller M.S., C.G.C., Assistant Professor, Molecular and Medical Genetics, OHSU
Learning Objectives:
- Following this presentation, attendees will be able to:
- Share two reasons families who have children with skeletal dysplasia benefit from care with a multidisciplinary specialty team
- Discuss at least one risk and potential gain to investigational treatments for achondroplasia
November 25, 2021
No Molecular and Medical Genetics Grand Rounds
December 2, 2021
“A geneticist's journey from small infants to small molecules ”
Presented by Emily Shelkowitz, MD, Medical Biochemical Genetics Fellow, Children’s Hospital Colorado
Learning Objectives:
- Review the presentation, clinical features and natural history of Nonketotic hyperglycinemia (NKH) and discuss variation by phenotypic category
- Discuss underlying pathophysiology of NKH and current treatment strategies
- Discuss the use of the ketogenic diet in the treatment of NKH and its impact on brain glycine levels and overall biochemical and clinical stability
December 9, 2021
No Molecular and Medical Genetics Grand Rounds
December 16, 2021
Targeting Adaptive Responses in Cancer Through SMMART Clinical Trials
Presented by Gordon Mills, M.D., Ph.D., Professor of Cell, Developmental and Cancer Biology, OHSU
Learning Objectives:
- To understand how tumor cells adapt to therapeutic stress
- To understand the challenges associated with targeting adaptive responses to therapeutic stress
- To understand the clinical landscape of ongoing trials at OHSU targeting adaptive responses.
December 23, 2021
No Molecular and Medical Genetics Grand Rounds
December 30, 2021
No Molecular and Medical Genetics Grand Rounds
January 6, 2022
The Breadth and Depth of Genomic Diagnostics: My Experience in Constitutional and Cancer Genomics
Presented by Xiaonan Zhao, Ph.D., ACGME Lab Genetics and Genomics Fellow, Baylor College of Medicine
Learning Objectives:
- Discuss the utility of machine learning tools to process complex cancer next generation sequencing data
- Discuss fusion detection strategies and review the spectrum of NTRK fusion related pediatric tumors
- Discuss the development and utility of RNA sequencing tests for interpreting variants of uncertain significance
January 13, 2022
The utility of next generation sequencing in clinical diagnosis
Presented by Nan Jiang, Ph.D., Clinical Laboratory Genetics and Genomics Fellow, Columbia University Medical Center
Learning objectives:
- The strength and limitations of whole exome sequencing in the clinical diagnosis of constitutional diseases
- The molecular classifications of medulloblastoma
- The requirements for NGS based test validation
- The unique aspects of prenatal sequencing
January 20, 2022
Insights from studying the neurological disease Rett syndrome
Presented by Gail Mandel, Ph.D., Professor, Senior Scientist, Vollum Institute, OHSU
- Learn from results outside your own field, but
- Don’t automatically believe everything you read in a paper
- Be willing to take reasonable risks in your experiments
January 27, 2022
Molecular landscape of microcephaly
Presented by Wojciech Wiszniewski, M.D., Ph.D., Associate Professor, Molecular and Medical Genetics, OHSU
Learning Objectives:
- Molecular basis of microcephaly
- Progress on identification of novel genes associated with microcephaly
February 3, 2022
Overview of the Pediatric Brain Tumor Program at OHSU
Presented by Matthew Miller, M.D., Assistant Professor, Pediatrics, Division of Hematology and Oncology, OHSU
Learning Objectives:
- Provide an overview of the pediatric brain tumor program at OHSU
- Display the broad and diverse disease treated in the neuro-oncology program
- Highlight for which pediatric neuro-oncology patients germline testing is warranted
February 10, 2022
Hidden from ‘sight’: The non-coding genome and associated disorders
Presented by Amy Yang, M.D., Assistant Professor, Molecular and Medical Genetics, OHSU
Learning Objectives:
- Describe examples and categories of genetic conditions involving non-coding regions of the genome
- (Disclaimer: not comprehensive, focus is rare genetic conditions)
- Describe current methods for detection/diagnosis for these conditions
- Describe current methods of predicting a non-coding variant’s impact
February 17, 2022
Presented by Timothy O’Brien, Ph.D., and Amiee Potter, Ph.D.
Learning Objectives:
- Review craniosynostosis
- Review digenic inheritance
- Understand the usefulness of biological pathways and networks in the identification of genes involved in digenic inheritance
February 24, 2022
Presented by Penelope Hogarth, MD, Associate Professor, Molecular and Medical Genetics, OHSU
Learning Objectives:
- Describe the evolving therapeutics landscape in HD
- Define tools in use and in development to measure HD
March 3, 2022
The Magnificint World of Manganese
Presented by David Koeller, M.D., Professor, Molecular and Medical Genetics, OHSU
Learning Objectives:
- Review the roles and properties of physiologically relevant metals
- Manganese
- Functional roles
- Dietary sources and requirements
- Disorders of Manganese Homeostasis
- Environmental
- Inherited
- Manganese in common diseases
March 10, 2022
Precision Medicine Models for Rare and Undiagnosed Diseases
Presented by Lindsay Burrage, M.D., Ph.D., Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
Learning Objectives:
- To demonstrate how existing mouse models and their phenotypes can be used to support human disease gene discovery
- To introduce the BCM Center for Precision Medicine Models and discuss how the Center can provide data that may impact the care of patients with rare and undiagnosed diseases
March 17, 2022
Medical Management of Pediatric Bone Diseases
Presented by Lindsey Nicol, M.D., Associate Professor, Pediatrics, Division of Endocrinology, OHSU
Learning Objectives:
- Gain knowledge in the available medical treatments for pediatric skeletal diseases
- Achondroplasia and vosoritide
- X-Linked Hypophosphatemia Rickets and burosumab
- Osteogenesis Imperfecta and bisphosphonates
March 24, 2022
No Molecular and Medical Genetics Grand Rounds
March 31, 2022
Presented by the Metabolic Genetics Team
April 7, 2022
Presented by Lucia Carbone, Ph.D.
April 14, 2022
Cytogenetics Lab Case Presentation
Presented by the Cytogenetics Lab Team
April 21, 2022
April 28, 2022
May 12, 2022
No Molecular and Medical Genetics Grand Rounds
May 26, 2022
June 9, 2022
June 16, 2022
No Molecular and Medical Genetics Grand Rounds
June 30, 2022
June 17, 2021
Implications of Genetic Testing for Treatment and Prevention of Cancer
Presented by Stephanie Goettl, M.S, C.G.C., Instructor, Molecular and Medical Genetics, OHSU, and Jone Sampson, M.D., Professor, Molecular and Medical Genetics, OHSU
Learning Objectives:
- List two types of cancers that have FDA approvals for PARP inhibitors with certain genetic indications
- Describe a recent development for cancer prevention in hereditary cancer syndromes
June 10, 2021
Pharmacogenetics: Opening this Can of Worms
Presented by Terry Kho, M.D., Fellow, Molecular & Medical Genetics, OHSU, Pediatrics, OHSU
Learning Objectives:
- Understand how pharmacogenetics are currently being used (or not used) in clinical practice
- Understand where we are in terms of currant literature and available guidelines
- Understand the multistep process of implementing pharmacogenetic testing into clinical practice
- Understand where to find resources/guidelines/articles to learn more or share with referring providers/patients
June 3, 2021
Genomic Medicine in Diverse Populations: From Biobanks to Patients
Presented by Noura Abul-Husn, M.D., Ph.D., Associate Professor, Medicine and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, NY.
Learning Objectives:
- Recognize how research biobanks embedded in health systems can drive genomic medicine
- Describe the prevalence and clinical impact of medically actionable genomic variants in unselected patient populations
- Devise strategies to tailor the implementation of genomic medicine in diverse
populations
May 27, 2021
Ocular Anterior Segment Disorders
Presented by Beth Edmunds, M.D., Ph.D., Associate Professor, Ophthalmology, Casey Eye Institute, OHSU, and Jonathan Zonana, M.D., Professor, Molecular and Medical Genetics, OHSU
Learning Objectives
- Understand the anatomy of the anterior portion of the eye.
- Diagnosis and treatment of the disorders
- Associated syndromes and genetics.
May 20, 2021
Updates in Epidermolysis Bullosa
Presented by Tracy Funk, M.D., Associate Professor, Pediatric Dermatology, OHSU
Learning Objectives
- Review current classification system
- Discuss genotype/phenotype correlations
- Discuss new therapeutic interventions
May 13, 2021
Implementation of Rapid Whole Genome Sequencing for Critically Ill Infants
Presented by David Dimmock M.D., F.A.C.M.G., D.A.B.P., Senior Medical Director, Genomic Medicine, Rady Children’s Institute
May 6, 2021
Genetic testing in early-life epilepsy (can yield a diagnosis and change treatment)
Presented by Ittai Bushlin, M.D., Ph.D., Associate Professor, Pediatric Neurology and Epilepsy, OHSU
Learning Objectives
- Genetic testing options for epilepsy are rapidly evolving
- Genetic testing, particular in early life epilepsy, has a relatively high yield rate
- Diagnostic genetic results can potentially impact treatment in a growing number of epilepsy-associated conditions
April 29, 2021
Should the CHEK2 gene be checked for cancer susceptibility?
Presented by Fei Yang, M.D., Ph.D., Assistant Professor, Pathology & Laboratory Medicine, OHSU
Learning Objectives
- To be familiar with the association of the CHEK2 germline variants with cancer predisposition
- To review the current opinion on genetic testing for germline CHEK2 variants in patients with cancer
April 22, 2021
Interesting Cases from the Adult Genetics Clinic
Presented by Mary Pat Bland M.S., C.G.C., Instructor, Molecular & Medical Genetics, OHSU, and Kory Keller M.S., C.G.C., Assistant Professor, Molecular & Medical Genetics, OHSU, and Puneet Rai M.S., C.G.C., Instructor, Molecular & Medical Genetics, OHSU.
Learning Objectives
- Recognize the challenges of interpreting genetic test results
- Learn the key clinical features of several rare genetic conditions
April 8, 2021
Epigenetic Modification by DNA Methylation in Cancer
Presented by Andres Madrigal, M.D., Ph.D., Molecular Genetic Pathology Fellow, OHSU
Learning Objectives
- Introduce epigenetics in the context of cell biology and cancer
- Understand the mechanisms of DNA methylation
- Understand the changes in methylation that influence tumorigenesis
- Inspire when and how to incorporate methylation studies into the practice of pathology
April 1, 2021
Methionine Synthase Deficiency: Variable Clinical Presentation and Benefit of Early Diagnosis and Treatment
Presented by Kimberly Kripps, M.D., Assistant Professor, Molecular & Medical Genetics, OHSU
Learning Objectives
- Review the presentation, pathophysiology, and treatment of Methionine Synthase Deficiency (cblG)
- Demonstrate the benefit that therapeutic management has on clinical outcomes
- Discuss the need and potential mechanisms for identifying cblG on Newborn Screening
March 18, 2021
Inflammatory Microenvironment: Driver of Leukemia Initiation and Progression
Presented by Anupriya Agarwal, Ph.D., Associate Professor, Division of Hematology & Medical Oncology, Knight Cancer Institute, OHSU
Learning Objectives
- Increase knowledge of fundamental mechanisms and pathways for leukemia initiation and progression
- Understanding how extrinsic events (Nurture) cooperates with intrinsic genetic changes (nature) to drive leukemia
March 4, 2021
Utility of Genetic Testing for Patients with Cerebral Palsy
Presented by McKenna Kyriss, Ph.D., Laboratory Genetics and Genomics (LGG) Fellow, Knight Diagnostic Laboratories, OHSU
Learning Objectives
- Become familiar with some of the more common heritable causes of cerebral palsy
- Be familiar with genetic testing options available for patients with cerebral palsy, and have an idea of when such testing might be beneficial given recent literature reports
February 25, 2021
Transcriptional and translational regulation in medulloblastoma
Presented by Yoon-Jae Cho, M.D., Associate Professor, Pediatrics, Neurologist-In-Chief, OHSU, Erickson Family Endowed Professor for Research
Learning Objectives
- Identify the 4 molecular subgroups of medulloblastoma: SHH, WNT, Grp3, Grp4
- Understand the prognostic implications of molecular subgrouping in medulloblastoma
- Understand the impact of mutations in DDX3X on translation regulation
February 18, 2021
LPIN1 Deficiency: Exploration of the Pathophysiology and Treatment Strategies for a Rare Metabolic Disease
Presented by David Koeller, M.D., Professor, Molecular & Medical Genetics, OHSU, and Kimberly Kripps, M.D., Assistant Professor, Molecular & Medical Genetics, OHSU
Learning Objectives
- Discuss the clinical phenotype of LPIN1 deficiency
- Explore the proposed pathophysiology of the disease
- Discuss treatment/management considerations for LPIN1 deficiency
February 11, 2021
Mitochondrial membrane protein-associated neurodegeneration (MPAN): both recessive and dominant inheritance
Presented by Allison Gregory, M.S., C.G.C., Adjunct Assistant Professor, Molecular & Medical Genetics, OHSU
Learning Objectives
- Review the clinical features and natural history of MPAN
- Understand new evidence supporting both autosomal dominant and autosomal recessive inheritance in this condition
February 4, 2021
23&Me or Headache4U: Navigating the Landscape of Direct to Consumer Testing
Presented by Terry Kho, M.D., Fellow, Molecular & Medical Genetics, OHSU, Pediatrics, OHSU
Learning Objectives
- Understand the past to current state of direct to consumer genetic testing
- Understand the different possible tests, results, and interpretations provided by direct to consumer companies and how to approach them as healthcare providers
January 28, 2021
“You’re gonna need a bigger boat”… Experiences with newborn screening for new disorders
Presented by Sarah Viall, P.P.C.N.P.-B.C., Instructor, Molecular & Medical Genetics, OHSU
Learning Objectives
- Review process and considerations when adding new conditions to newborn screening
- Review experiences of states, including Oregon, which have added new conditions to screening panels with a focus on the lysosomal storage disorders (LSDs)
- Discuss opportunities for future consideration or research
January 21, 2021
Interesting Cases from KDL Cytogenetics
Presented by Susan Olson, Ph.D., Professor, Molecular & Medical Genetics, OHSU
Learning Objectives
- Discuss interesting cytogenetics cases
- Recognize the value of concomitant use of multiple cytogenomic technologies
Review KDL testing protocols for sex chromosome abnormalities
January 14, 2021
My Adventures as a Locums Geneticist
Presented by Dana Simpson, M.D., Clinical Geneticist, Community Regional Medical Center, Fresno, CA, and Kaiser Permanente, Northwest
Learning Objectives
- Understand the pros and cons of locums work verses typical employment
- Learn which genes were most often found to have pathogenic changes in the hereditary cancer families presented
January 7, 2021
Muscle-directed gene therapy for genetic disease treatment and COVID-19 prevention
Presented by Cary Harding, M.D., Professor, Molecular & Medical Genetics, OHSU
Learning Objectives
- Review the current status of gene therapy trials for PKU and OTC deficiency
- Review the history of nonviral muscle-directed gene therapy and attempts to develop this approach as heterologous therapy for PKU
- Review the current status of muscle-directed gene therapy for inherited disorders
- Review how this work laid the foundation for COVID-19 vaccination programs
December 17, 2020
Scoliosis in 2020: What We Know and Still Don’t Know
Presented by Michelle Welborn, M.D., Pediatric Orthopedic Surgeon, Shriners Hospital for Children
Learning Objectives
- Identify the different types of scoliosis and how that affects prognosis
- Better understand the natural history of scoliosis and its long-term impact
- Understand what should trigger a referral to a specialist
December 10, 2020
Ethical Considerations in Preimplantation Genetic Testing
Presented by Allison Allen, M.D., Fellow, Molecular & Medical Genetics, OHSU, Maternal Fetal Medicine, OHSU
Learning Objectives
- Review the options for preimplantation genetic testing
- Consider the ethical implications for preimplantation genetic testing
December 3, 2020
The CHARM Study: Development and Implementation of a Novel Genetic Counseling Model
Presented by Mari Gilmore, M.S., C.G.C., Research Associate II, Certified Genetic Counselor, Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research
Learning Objectives
- Understand the rationale for developing the ARIA genetic counseling model
- Understand how the ARIA model was implemented in the CHARM study
November 19, 2020
The Centers for Mendelian Genomics: Discoveries, Lessons Learned, and Future Directions
Presented by Jennifer Ellen Posey, M.D., Ph.D., FACMG, Assistant Professor, Department of Molecular & Human Genetics, Adult Genetics Clinics, McNair Campus and Smith Clinic, Baylor College of Medicine.
Learning Objectives
- The learner will be able to describe one example of a gene associated with both dominant and recessive disease
- The learner will be able to define dual molecular diagnosis
- The learner will be able to describe processes for leveraging existing CMG data to support local discovery and research
November 12, 2020
Emerging Therapies for Inherited Retinal Degenerations
Presented by Mark Pennesi, M.D., Ph.D., Division Chief. Associate Professor, Ophthalmic Genetics, Professor of Ophthalmology, School of Medicine
Learning Objectives
- Understand the evolution of categorizations of inherited retinal degenerations
- Understand new treatment options for IRDs including gene augmentation therapy, gene editing, and antisense oligonucleotides
November 5, 2020
The Exciting World of Testing for Inherited Disorders
Presented by Catherine Driscoll, Ph.D., NGS Analyst, Knight Diagnostic Lab, OHSU
Learning Objectives
- Platelet Panel Case: FGG and ITGB3
- Single Gene Sequencing & Deletion/Duplication Case: PKAN
Targeted Familial Testing Case: RUNX1
October 22, 2020
Old data, new information: New diagnoses discovered from whole exome sequencing reinterpretation (including practical and ethical considerations)
Presented by Anna Dennis, M.S., C.G.C., Instructor, Molecular & Medical Genetics, OHSU, and Kory Keller, M.S., C.G.C., Assistant Professor, Molecular & Medical Genetics, OHSU, and Jessica Kushner, M.S., C.G.C., Instructor, Molecular & Medical Genetics, OHSU
Learning Objectives
- Attendees will learn the value, in terms of increased diagnostic yield, of ongoing reanalysis of whole exome data as new genes and disorders are described and variants are definitively classified.
- Attendees will be able to describe two practical challenges or ethical issues that may arise following whole exome sequencing reinterpretation and be able to share appropriate responses.
October 15, 2020
Mendelian Subforms of Human Spermatogenic Failure
Presented by Don Conrad, Ph.D., Division Chief, Associate Professor, Division of Genetics, Oregon National Primate Research Center
Learning Objectives
- Attendees will be able to discuss genetic causes of male infertility
- Attendees will be able to discuss some ways that genomic technology will change how infertility is diagnosed and treated.
October 8, 2020
Addressing the History of Racism in Genetics to Build an Anti-Racist Future
Presented by Meghan Mannello, M.S., C.G.C., Assistant Professor, Molecular & Medical Genetics, OHSU, Cardiology, OHSU
Learning Objectives
- Identify historical examples of racism in the field of genetics
- Identify current problems with racism in the field
- Propose possible options for addressing racism in genetics
October 1, 2020
Silver-Russell Syndrome: Updated Guideline and Important Mimics
Presented by Caleb Rogers, M.D., Assistant Professor, Molecular & Medical Genetics, OHSU
Learning Objectives
- Describe the clinical diagnostic criteria for Silver-Russell Silver syndrome
- Become familiar with molecular mechanisms and testing options
- Describe some conditions with overlapping features and recognize key differences
September 24, 2020
Laboratory Testing for COVID-19: Trials and Triumphs
Presented by Yassmine Akkari, Ph.D., F.A.C.M.G., Scientific Director, Cytogenetics and Molecular Pathology, Legacy Health
Learning Objectives
- Describe approaches undertaken to meet COVID19 testing demands
- The current state of reagents allocations and ways to circumvent shortage
- Looking ahead at the flu season