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