Medical Genetics Grand Rounds (GENE 284)
Medical Genetics Grand Rounds (GENE 284) will be held on Fridays from 9:30am-10:00am in the CAM Grand Rounds Room (unless otherwise noted) and via Zoom.
| DATE | SPEAKER | TITLE |
|---|---|---|
| 9/27/24 | Rebecca Schapiro, BA |
Reproductive Options in Mitochondrial Conditions |
| 10/4/24 |
Chloe Reuter, MS, CGC |
Considerations for multi-omics return of results in clinical translational research |
| 10/11/24 | Arnhildur Tómasdóttir, BS |
Protective Genetic Variants: Their Clinical and Therapeutic Potential |
| 10/18/24 |
Armando Sanchez-Conde, BA | Underrepresentation can lead to Uncertainty: Presented through the lens of cardiomyopathy |
| 10/25/24 |
Emily Huang, BS | The Dual Pathogenic Role of ATXN2 |
| 11/1/24 |
Tia Moscarello, MS, CGC | Assessing the feasibility, acceptability, and appropriateness of a standardized psychosocial assessment tool (the BATHE method) in genetic counseling |
| 11/8/24 (Alway M114) |
Jorge Rodriguez-Gil, MD, PhD |
Niemann-Pick Disease, Type C: From Bedside-to-Bench-to-Bedside |
| 11/15/24 |
Sarah Huang, BS | Patient, participant, both: Ethical considerations of blurring boundaries between clinical care & rare disease genomics research |
| 11/22/24 |
Maheen Farooqi, BS |
Applications of Machine Learning to Variant Interpretation and Variant Prioritization |
| 12/6/24 |
Danielle Luz, MD |
Big Data in Rare Disease: Leveraging EHR Analytics and Big Data to Improve Genetic Diagnosis and Care |
| 1/10/25 |
Aiste Narkeviciute, MS, CGC | The answer was there “ALP” along: the (not so rare) disease hypophosphatasia |
| 1/17/25 |
Caitlin Silva, BS | The Unexpected Life: Navigating Adulthood with Cystic Fibrosis |
| 1/24/25 (Alway M112) |
Leah Rossi, BS |
The Current Landscape on the Intersection of Reproductive Health & Genetic Counseling |
| 1/31/25 |
Jazmine Newson, BAS |
Examining the Utility of Genetic Testing for Kidney Transplants |
| 2/7/25 |
Esha Mahal, BS |
Considerations for Newborn Screening of Pediatric Cancer Syndromes |
| 2/14/25 |
Stuart Scott, PhD |
Clinical Genomics Laboratory: Updates, Collaborations, and Opportunities |
| 2/21/25 |
Katie Comerford, BS |
Hope & Resilience: Emerging Therapies for Sanfilippo Syndrome & The Parents Pushing Progress Forward |
| 2/28/25 |
Sophia Adelson, BA |
Find It, Treat It? Advancing Precision Care in Pregnancy Through a Treatable Fetal Findings List |
| 3/7/25 |
Chenery Lowe, PhD, ScM, CGC |
Locating the value(s) of genetic counseling and clinical genomics in the post-exceptionalism era |
| 3/14/25 |
Kajal Verma, MD |
The Evolving Role of Carrier Screening in Reproductive Medicine |
| 4/4/25 (Alway M112) |
Carolyn Bell, BS |
Beyond the Diagnosis: Palliative Care Considerations for Genetic Conditions |
| 4/11/25 | Allie Zahn, BS |
From Ions to Insights: The Role of Channelopathy Genetics in Epilepsy |
| 4/18/25 |
Suha Bachir, MD, MS |
Threading through the Connective Tissue Disorders; Diagnosing, Differentiating and Advancements |
| 4/25/25 |
Amanda Mitchell, BS |
The Current Landscape of cfDNA for Single-Gene Disorders in the Prenatal Setting |
| 5/2/25 |
Deepali Shinde, PhD |
An Overview of Genetic Testing and Counseling for Fanconi Anemia |
| 5/9/25 |
Fiona Seung, BS |
Beyond the Barr Body: Rethinking Approaches to Klinefelter Syndrome Disclosure |
| 5/16/25 (Alway M112) |
Matthew Neu, MD, PhD |
Beyond Current Guidelines: Uncovering Genetic Etiologies of Pediatric Acute Liver Failure |
| 5/23/25 |
Wanqiong Qiao, PhD, MS |
From Detection to Reporting: Interpreting Copy Number Variants in Genome Panel Testing |
| 5/30/25 |
Misha Rashkin, MS, CGC |