October 2, 2025

Systemic Identification of Metabolic Regulators in Neurons and More

Presented by 
Neal Bennett, Ph.D.
Assistant Professor
Molecular and Medical Genetics, OHSU

Learning Objectives:

•    Understand approaches to systematically define metabolic regulators and vulnerability
•    Understand ways that metabolism intersects with cellular functions and regulatory systems
•    Understand mechanisms behind specific metabolic regulators we study, ex: tau protein, Krabbe compensatory lipid synthesis
 

October 9, 2025

Harnessing African Genomic Variation to Improve Health Globally

Presented by
Ambroise Wonkam, M.D., Ph.D. Professor
Genetic Medicine, Johns Hopkins University Director
McKusick-Nathans Institute & Department of Genetic Medicine, Johns Hopkins University

Learning Objectives:

• To share experience and lessons learned from genetic medicine practice in Africa and related global implications;
• To explain why improved knowledge of African genomic variation will enhance health in all populations;
• To showcase examples of recent genomic discoveries in African populations and explain their globally relevance;
• To discuss a global research agenda for African genomic research within the next decade.

October 16, 2025

No Molecular and Medical Genetics Grand Rounds

October 23, 2025

No Molecular and Medical Genetics Grand Rounds

October 30, 2025

“Efforts Toward Earlier Identification of Cerebrotendinous Xanthomatosis; A Treatable Disorder of Bile Acid Synthesis”

Presented by
Andrea E. DeBarber, Ph.D.
Research Associate Professor
Chemical Physiology and Biochemistry, School of Medicine, OHSU

Learning Objectives

• Clinical, biochemical and genetic aspects of Cerebrotendinous Xanthomatosis (CTX), a rare genetic disorder that, left untreated, can cause irreversible neurological damage and premature death.
• Advances in bioanalytical testing for diagnosis of CTX and to monitor the efficacy of treatment.
• OHSU role in obtaining FDA approval of chenodeoxycholic acid to treat CTX.
• Development of high-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) methods useful to screen newborn dried bloodspots for CTX. Early identification of CTX by newborn screening would be highly significant as the burden of disease if left untreated is profound, and morbidity and mortality can be prevented through early detection and intervention.

November 6, 2025

“Social Media in Genetics and Metabolism”

Presented by
Maxwell Summerlin, M.D.
Medical Biochemical Genetics Fellow
Molecular and Medical Genetics, OHSU

Learning Points/ Objectives:

1. Social media democratizes medical education, breaking down barriers between experts and learners, providers and patients.

2. Our failure to interact with patients, learners and educators on social media affects our ability to connect, educate, and grow.

November 13, 2025

“L-fucose: a sugary modulator of tumor suppression and pathogenesis.”

Presented by
Eric Lau, Ph.D.
Associate Professor
Knight Cancer Institute, Division of Oncological Sciences, OHSU

Learning objectives:

• Why do we care about L-fucose in cancer biology, and potentially, in therapeutics?
• Protein signal transduction and intercellular interactions can be leveraged by manipulating fucosylation.

November 20, 2025

“Dyskeratosis Congenita: A Case for Genetics”
Presented by Douglas Preston, M.D., Ph.D.
Molecular Genetics and Pathology Fellow
Knight Diagnostic Labs, OHSU

Learning objectives:

• Presentation and symptoms of dyskeratosis congenita (DKC)
• Genes and important domains
• Molecular biology and pathogenesis
• Symptoms and patient presentation
• Prognosis for patients
• Therapies and associated risks

November 27, 2025

No Molecular and Medical Genetics Grand Rounds

December 4, 2025

“Genetics Behind the Puzzle: A Case of Multiple Congenital Anomalies”

Presented by Ngoni Faya, Ph.D., DABMGG
Assistant Professor
Molecular and Medical Genetics, OHSU
Director
Cytogenetics and Molecular Diagnostics, Knight Diagnostic Laboratories, OHSU

Learning Objectives:

• Explore the diagnostic workflow for uncovering genetic causes of multiple congenital anomalies
• Evaluate the role of genomic tools in clinical diagnosis
• Discuss the importance of communication between the primary care team and the laboratory

December 11, 2025

Cytogenetics Case Presentation

December 18, 2025

Zhengchun Lu, M.D., MSc, Ph.D., Molecular Pathology Fellow, OHSU

December 25, 2025

No Molecular and Medical Genetics Grand Rounds

January 1, 2026

No Molecular and Medical Genetics Grand Rounds

January 8, 2026

Beth A. Tarini, M.D., M.S., M.B.A., Center for Translational Research, Children’s National Hospital

January 15, 2026

Ahmad Abou Tayoun, Ph.D. FACMG, Genetics, Dubai Health Genomic Medicine Center

January 22, 2026

No Molecular and Medical Genetics Grand Rounds

January 29, 2026

Melanie Gillingham, Ph.D., R.D., Molecular and Medical Genetics, OHSU

February 5, 2026

Adult Genetics Case Presentation

February 12, 2026

Priya Kishnani, M.D., M.B.B.S., Medical Genetics, Duke University School of Medicine

February 19, 2026

Cancer Genetics Case Presentation

February 26, 2026

Marissa Kellogg, M.D., M.P.H., FAES, Portland VA Epilepsy Center of Excellence and Neurology, OHSU Comprehensive Epilepsy Center

March 5, 2026

TBD

March 12, 2026

Veronica Gonzalez, M.D.

March 19, 2026

No Molecular and Medical Genetics Grand Rounds

March 26, 2026

No Molecular and Medical Genetics Grand Rounds

April 2, 2026

Molecular Lab Case Presentation

April 9, 2026

Amy Yang, M.D., Molecular and Medical Genetics, OHSU

April 16, 2026

Pediatric Oncology Genetics Case Presentation

April 23, 2026

TBD

April 30, 2026

Harry Ostrer, M.D., Pathology and Pediatrics, Albert Einstein College of Medicine

May 7, 2026

Perinatal Genetics Case Presentation

May 14, 2026

Max Summerlin, M.D., Medical Biochemical Genetics Fellow, OHSU

May 21, 2026

No Molecular and Medical Genetics Grand Rounds

May 28, 2026

Mushui Dai, M.D., Ph.D., Professor, Molecular and Medical Genetics, OHSU

June 4, 2026

Metabolic Genetics Case Presentation

June 11, 2026

Leah Wessenberg, F.N.P., M.N., Molecular and Medical Genetics, OHSU

June 18, 2026

Pediatric Genetics Case Presentation

October 3, 2024

The fantastic world of fucose: when a red triangle hops on a merry‐go‐round

 

Rodrigo Tzovenos Starosta, M.D., Ph.D. Assistant Professor, Molecular and Medical Genetics, OHSU

Learning objectives:

By the end of the presentation, the learner will be able to:

•    Describe how fucose is activated and incorporated into nascent glycan structures

•    Understand the pathogenesis of the congenital disorders of glycosylation with defective fucosylation (CDG-F)

•    Describe the main CDG-Fs and their treatment

 

October 10, 2024

Treatment of Neuronopathic LSDs by Intravenous ERT with Fusion Proteins that Bypass the BBB

Roberto Giugliani, M.D., Ph.D., MSc, Professor, Genetics and Molecular Biology, Federal University of Rio Grande do Sul

Head of Rare Diseases, Dasa Genomics

Founder and Director, Casa dos Raros

Learning Objectives:

Upon completion of this activity, participants should be able to:

•    Review the unmet needs with current therapies for mucopolysaccharidoses (MPS)

•    Identify challenges for the treatment of neurological manifestations of the MPS 

•    Discuss advantages and limitations of fusion proteins for the treatment of neuronopathic MPS

October 17, 2024

No Molecular and Medical Genetics Grand Rounds

October 24, 2024

Molecular Characterization Initiative: Progress to Date 

Catherine Cottrell, Ph.D., FACMG, Section Chief, Clinical Laboratory, The Institute for Genomic Medicine, Nationwide Children’s Hospital

Shalini Reshmi, Ph.D., FACMG, Senior Director, Clinical Laboratory, The Institute for Genomic Medicine, Nationwide Children’s Hospital

Elizabeth Varga, M.S., C.G.C., Director, The Institute for Genomic Medicine, Nationwide Children’s Hospital

Samara Potter, M.D., M.B.A., Director, The Institute for Genomic Medicine, Nationwide Children’s Hospital

Learning Objectives:

•    State the objectives of the National Cancer Institute’s Molecular Characterization Initiative (MCI).

•    Summarize the laboratory workflow and result interpretation for MCI samples.

•    Discuss educational cases and lessons learned.

 

October 31, 2024

Scary Cases in Cancer Genetics 

Sophie Means, M.S., C.G.C., Instructor, Molecular and Medical Genetics, OHSU

Learning Objectives:

•    Identify recent significant changes to NCCN guidelines

•    Discuss the most appropriate surveillance for patients with more than one pathogenic variant

•    Discuss unique cases in cancer genetics

 

November 7, 2024

No Molecular and Medical Genetics Grand Rounds

November 14, 2024

Lessons learned from a clinical laboratory. It’s not a black box.

Alaa Koleilat, Ph.D., Assistant Professor, Molecular and Medical Genetics, OHSU

Learning Objectives:

After participating in this session, attendees should be able to:

•    Describe the limitations and challenges of variant classification

•    Comment on the limitations of automated variant generation

 

November 21, 2024

The mechanism of action and role of two-pore channels TPC1 and TPC2 in melanoma tumorigenesis and metastasis

John Parrington, B.A., M.A., Ph.D., Associate Professor, Molecular and Cellular Pharmacology, Department of Pharmacology, University of Oxford

Learning Objectives:

•    TPC2 polymorphisms affect cancer susceptibility

•    Hippo and mTOR – parallel signalling pathways 

•    TPC1 and TPC2 loss have opposite effects on melanoma tumorigenesis/metastasis

 

November 28, 2024

No Molecular and Medical Genetics Grand Rounds

December 5, 2024

No Molecular and Medical Genetics Grand Rounds

December 12, 2024

8:00 am

Lessons Learned Deep‐Sequencing Disorders of Somatic Overgrowth

Candace T. Myers, Ph.D., Laboratory Genetics and Genomics Fellow, Department of Laboratory Medicine and Pathology, University of Washington

Learning Objectives: 

• Recognize the challenges in detecting and interpreting mosaicism diagnostically
• Describe the two main factors that go into successful molecular diagnosis of vascular malformations
  • Affected (FFPE or frozen) tissue and
  • Methods sensitive to low variant allele fraction (VAF)
• Recognize the limitations of a “negative” (non-diagnostic) result

9:00 am

High‐throughput Deep Mutational Scanning to determine pathogenicity of Variants of Uncertain Significance in genes in the Sonic Hedgehog Pathway

Dustin Baldridge, M.D., Ph.D., Assistant Professor, Department of Pediatrics, Washington University in St. Louis

Learning Objectives:

• Understand the scale of the problem that Variants of Uncertain Significance (VUS) pose to the field of human genetics.
• Determine the potential role that high throughput cell-based assays can play in addressing the VUS problem

December 19, 2024

The prenatal diagnostic quagmire that is “mosaic genome-wide uniparental disomy”

Zinandré Stander, Ph.D., Fellow, Laboratory Genetics and Genomics, Mayo Clinic

Learning objectives:

• Identify key cytogenetic and molecular genetic patterns of mosaic genome-wide uniparental disomy (mGWUPD)
• Recognize different biological mechanisms that lead to variations in these patterns
• Understand the potential analytical and clinical challenges of identifying mGWUPD in a prenatal setting

December 26, 2024

No Molecular and Medical Genetics Grand Rounds

January 2, 2025

No Molecular and Medical Genetics Grand Rounds

January 9, 2025

From Venezuela to Viral Vectors: A History of Huntington’s Disease

Lauren Talman, M.D., Assistant Professor, Department of Neurology, OHSU Parkinson Center and Movement Disorders Program

Learning Objectives:

• Review the origins of our understanding of Huntington’s Disease (HD) as a clinical entity
• Highlight the Venezuela Project and the Lake Maracaibo community’s contribution to the HD gene discovery
• Discuss the current clinical trial landscape in HD
• Examine the ongoing inequities for individuals with HD in Latin America and efforts underway to ameliorate these

January 16, 2025

Advancing Patient Care Through Genetics: My Journey and Insights

Ngonidzashe Faya, Ph.D., Clinical Fellow, Laboratory Genetics and Genomics, Division of Human Genetics, Cincinnati Children’s Hospital Medical Center

Learning Objectives:

• Creating an introductory bioinformatics curriculum for genetic researchers
• Understanding strengths and limitations of genetic assays
• Emphasizing the role of quality improvement in clinical genetics laboratories

January 23, 2025

OHSU Genetics Club

January 30, 2025

Genome‐Based Diagnostic Testing and Clinical Long‐Read Sequence

Stuart A. Scott, Ph.D., FACMG, Professor, Department of Pathology, Standford University, Stanford, CASection Director, Clinical Genomics Laboratory, Standford University, Palo Alto, CA

Learning Objectives: 

• To introduce the Stanford Medicine Clinical Genomics Laboratory. 
• To demonstrate the implementation of clinical short-read genome sequencing for germline diagnostic testing.
• To assess the utility of long-read sequencing for clinical implementation, including pharmacogenomic testing.

February 6, 2025

Mistakes I have made

Virginia P. Sybert, M.D., Clinical Professor, Division of Medical Genetics, Department of Medicine, University of Washington

Learning Objectives

• To understand the issues of clinical and molecular heterogeneity and utility of lumping or splitting
• To recognize the interface of clinical and molecular diagnosis
• To walk with humility and courage.

February 13, 2025

No Molecular and Medical Genetics Grand Rounds

February 20, 2025

Pediatric Parkinsonism and New Genetic Causes

Ángeles García‐Cazorla, M.D., Ph.D., Associate Professor, Pediatric Neurology, , Sant Joan de Déu Hospital, Barcelona. Head of the Metabolic Diseases Unit, Sant Joan de Déu Hospital, Barcelona

Learning Objectives: 

• To understand the diagnostic criteria for pediatric parkinsonism and neurodevelopmental parkinsonism
• To know the main genetic causes of pediatric parkinsonism

February 27, 2025

The MYC Oncoprotein in Aggressive Liver Metastatic Pancreatic Cancer

Rosalie C. Sears, Ph.D., Professor, Department of Molecular and Medical Genetics, OHSU

At the conclusion of this presentation, the participant should be able to:

• Explain biological and clinical properties of pancreatic cancer.
• Discuss post-translational control of MYC and its functions in cancer metastasis and therapy resistance.​​​​

• Understand the value of window-of-opportunity clinical trials in biomarker discovery.

March 6, 2025

Renal sarcoma with MEIS1::NCOA1/2 fusion

Benjamin Smith, M.D, M.S., Fellow, Molecular Genetic Pathology, Knight Diagnostic Laboratories, OHSU

Learning objectives: 

• Introduce renal sarcoma with MEIS1::NCOA1/2 fusion and review the literature on it and related entities
• Introduce pilot work to understand gene expression in this entity compared to a potentially related tumor type
• At the conclusion of this presentation, the audience will be familiar with the clinicopathologic features and differential diagnosis of this emerging entity.

March 13, 2025

Current controversies and challenges in preimplantation genetic testing for aneuploidy

Emily L. Mounts, M.S., C.G.C., Vice President of Medical Affairs, Juno Genetics US

Learning Objectives:

• Understand the current scientific and clinical landscape of PGT-A including challenges in test validation, interpretation and counseling

• Appreciate the unique factors that have shaped uncertainties and controversies around PGT-A as compared to other areas of genetic testing.

March 20, 2025

No Molecular and Medical Genetics Grand Rounds

March 27, 2025

No Molecular and Medical Genetics Grand Rounds

April 3, 2025

Genomics of Adult-onset Leukodystrophies: Cased based approach on challenges and opportunities

Karthik Muthusamy, M.D., Clinical Genomics and Neurology, Mayo Clinic, Florida

Learning Objectives: 

Upon conclusion of this activity, participants should be able to:

• Define areas of new neuroscience knowledge and research
• Recognize pathologic and genomic correlations of adult-onset leukodystrophies.
• Explain recent advances in neurogenetics.

April 10, 2025

Through the Lens of Juvenile-onset Huntington’s Disease: Palliative Care Tools to Support Children with Neurodegenerative Disorders 

Natalie Lanocha, M.D., Assistant Professor

Guy Keplinger, MSN, RN, CHPPN, Nurse Coordinator

Frances Way, LAT, ATR, Licensed Art Therapist

Sara Taub, M.D., Associate Professor

Bridges Pediatric Palliative Care, OHSU

Learning Objective: 

• Understand the difference between palliative care and hospice care
• Explore some palliative care issues that patients with Juvenile Huntington’s Disease and their families confront

• Learn about a variety of resources available to patients, families, and teams in navigating neurodegenerative disorders

April 17, 2025

NR5A1 and Differences of Sexual Development: A case report and review.

Maryjka Blaszczyk M.D., Ph.D., Molecular Genetic Pathology Fellow, Knight Diagnostic Laboratories, OHSU

Learning Objectives: 

• Describe the role of NR5A1 in human gonadal development and its contribution to the (patho)genesis of disorders/differences of sex development (DSDs)
• Recognize the spectrum of clinical phenotypes associated with NR5A1 mutations

April 24, 2025

Update and review of 22q11.2 deletions

Casey Crawford, M.S., C.G.C., Instructor

Anna Dennis, M.S., C.G.C., Instructor

Kory Keller, M.S., C.G.C., Associate Professor

Sarah Viall, P.N.P., Assistant Professor

Molecular and Medical Genetics, OHSU

Learning Objectives: 

• Recognize the classic features of the 22q11.2 typical and atypical deletions
• Acknowledge the significant variability of features in people with 22q11.2 deletions
• Understand current care guidelines for people with 22q11.2 deletions

May 1, 2025

All things TP53: Cancer Case Presentation

Stephanie Goettl, M.S., C.G.C., Instructor

Keith Franke, M.G.C.S., C.G.C., Instructor

Laura Voss, M.S., C.G.C., Instructor

Kelly Jo Hamman, M.S., C.G.C., Assistant Professor

Molecular and Medical Genetics, OHSU

Learning Objective: 

• Identify clinical features and cancer spectrum associated with Li-Fraumeni syndrome (LFS) and how that differs from TP53 of undetermined origin
• Evaluate the psychosocial and familial considerations in the context of a positive TP53 result

• Identify key resources for individuals with LFS

May 8, 2025

ABCA4-Associated Retinopathy: Overview and Therapeutic Approach

Rebecca Lynn Clark, M.S., C.G.C., Assistant Professor, Casey Eye Institute, Genetics Division, OHSU

Grace Waldow M.S., C.G.C., Instructor, Casey Eye Institute, Genetics Division, OHSU

Learning Objectives: 

• Introduce inherited retinal dystrophies (IRDs)
• Describe ABCA4-associated retinal dystrophy
• Highlight ABCA4 variability and therapeutic approach

May 15. 2025

No Molecular and Medical Genetics Grand Rounds

May 22, 2025

Mosaicism Drivers and Impact

Mina Tabrizi, M.D., Ph.D., Laboratory Genetics and Genomics Fellow, Molecular and Medical Genetics, OHSU

Learning Objectives:

• Identify accumulating evidence for Inherited Predisposition of Clonal Hematopoiesis of Indeterminate Potential (CHIP).
• Recognize CHIP can be a risk factor for all-cause morbidity and mortality
• Discuss CHIP Clinics as potential catalysts of preventive medicine

May 29, 2025

The Status of Contemporary Therapy for Phenylketonuria (PKU)

Cary O. Harding, M.D., Professor, Molecular and Medical Genetics, OHSU

Learning Objectives: 

• Review the biochemistry, genetics, and pathophysiology of PKU
• Discuss investigations into the pathophysiology of PKU using a novel early-treated mouse model
• Discuss the current status of PKU treatment and outcomes
• Review the continued unmet treatment need and potential for novel therapies

June 5, 2025

No Molecular and Medical Genetics Grand Rounds

June 12, 2025

Insights from General Adult Genetics Clinic: Molecular Diagnosis of Connective Tissue Disorders and Hypermobility Support Needs

Mary Pat Bland, M.S., C.G.C.

Amanda Peterson, M.S., C.G.C.

Casey Crawford, M.S., C.G.C. 

Keith Franke, M.S., C.G.C.

Certified Genetic Counselors, Molecular and Medical Genetics, OHSU

Learning Objectives:

• Describe the current referral patterns for connective tissue disorders.
• Identify the most predictive clinical features of monogenic connective tissue disorders.
• Summarize current resources and clinical studies for connective tissue conditions as well as hypermobile Ehlers-Danlos.

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

No Molecular and Medical Genetics Grand Rounds

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

Pathway to Diagnosis

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

Update on Huntington Disease

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:

1. Review the roles and properties of physiologically relevant metals
2. Manganese
   • Functional roles
   • Dietary sources and requirements
3. Disorders of Manganese Homeostasis
   • Environmental
   • Inherited
4. 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

Metabolic Case Presentation

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

Presented by Terry Kho, M.D., Fellow, Molecular and Medical Genetics, OHSU, Pediatrics, OHSU

April 28, 2022

Presented by the Cancer Genetics Team

May 5, 2022

Presented by Meganne Leach, M.S.N., P.N.P., Pediatric Neuromuscular Nurse Practitioner, OHSU, Instructor of Pediatrics, Division of Neurology, OHSU

May 12, 2022

No Molecular and Medical Genetics Grand Rounds

May 19, 2022

Presented by Joanna Wiszniewska, M.D., Associate Professor, Pathology & Laboratory Medicine, Molecular and Medical Genetics, OHSU

May 26, 2022

Presented by the Adult Genetics Team

June 2, 2022

Presented by Sancy Leachmean, M.D., Ph.D., Professor and Chair, Department of Dermatology, OHSU, Director, Melanoma Research Program, Knight Cancer Institute, OHSU

June 9, 2022

Presented by Stephen Moore, Ph.D., Associate Professor, Molecular and Medical Genetics, OHSU

June 16, 2022

No Molecular and Medical Genetics Grand Rounds

June 30, 2022

Presented by: Terry Kho, MD

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