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 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 27, 2022

Pediatric Oncology Case Presentation

Presented by the Pediatric Oncology Genetics Team

February 24, 2022
March 24, 2022

No Molecular and Medical Genetics Grand Rounds

April 14, 2022

Metabolic Case Presentation

Presented by the Metabolic Genetics Team

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