#314 ASHG 2024 Recap

2024/11/9

DNA Today: A Genetics Podcast

Kira Dineen

Kira Dineen: 传统的孟德尔遗传学教学过于简化，忽略了遗传性状的复杂性和连续性。Radick博士的演讲强调了Weldonian遗传学观点的重要性，该观点认为遗传性状的连续性和复杂性是常态，而孟德尔遗传学只是一种特例。从孟德尔遗传学入手的遗传学教育可能存在误导性，因为它夸大了简单遗传模式的普遍性，并可能导致对某些疾病的种族偏见。 Kira Dineen: 镰状细胞病的遗传机制比传统观点认为的更为复杂，存在修饰基因的影响，环境因素也起着重要作用。即使是像镰状细胞病这样通常被认为是孟德尔遗传病的疾病，其遗传机制也远比我们想象的复杂。我们需要重新思考针对该疾病的治疗方法，并考虑其他遗传因素对表型的影响。 Dr. Gregory Radick: (根据Kira Dineen的描述) 孟德尔豌豆实验的局限性在于其简化了遗传性状的复杂性，忽略了连续性谱。Weldonian遗传学观点认为遗传性状的复杂性和连续性是普遍现象，而孟德尔遗传学只是一种特例。 Dr. Athena Starland-Davenport: (根据Kira Dineen的描述) 镰状细胞病的遗传机制十分复杂，除了单基因突变外，还存在修饰基因的影响，环境因素也起着重要作用。这些因素都会影响患者的症状和疾病进展。

Deep Dive

Key Insights

Why is Dr. Gregory Radick's presentation on Mendel's peas significant for genetics education?

Dr. Gregory Radick's presentation challenges the traditional teaching of Mendelian genetics by suggesting that Mendel's peas might not be as straightforward as taught. He proposes that genetics education should start with the complexity of traits, as seen in Weldonian genetics, rather than the simplicity of Mendelian traits. This approach could help students better understand the complexity of genetics and avoid oversimplifying genetic conditions.

Why is it important to consider genetic modifiers in the context of sickle cell disease?

Genetic modifiers play a crucial role in sickle cell disease by affecting the severity and progression of symptoms. For example, higher levels of fetal hemoglobin can mitigate the effects of sickling cells. Understanding these modifiers is essential for developing targeted therapies and personalized treatments, as the symptoms and disease progression can vary significantly among individuals.

Why did Lindsay Zetsche decide to create Science Geek Games?

Lindsay Zetsche, a genetic counselor with 20 years of experience, created Science Geek Games during the pandemic as a creative outlet. She developed a card game called Variation to teach basic genetics concepts in a fun and engaging way. The game is designed to be accessible to a wide range of ages, from elementary school students to medical professionals, and aims to improve genetic literacy and awareness.

Why is the ASHG 2024 Annual Meeting important for genetic professionals?

The ASHG 2024 Annual Meeting is a significant event for genetic professionals as it brings together researchers, clinicians, students, and industry leaders to share advancements in genetics and genomics. The conference offers a platform for networking, learning about new research, and exploring innovative technologies and educational tools. It is larger and more comprehensive than other conferences, providing a wide range of sessions and workshops.

Why is the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine recommended?

The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine is recommended because it provides comprehensive training in patient communication, data management, genetic testing coordination, and administrative tasks. The program includes two 10-week instructor-led courses and offers a certificate from the Johns Hopkins School of Medicine, giving participants a competitive edge in genetic counseling and related fields.

Chapters

This chapter recaps a presentation on Mendel's experiments with peas, challenging the traditional binary view of genetics and introducing the concept of Welldon's spectrum traits. It discusses the implications of this reframing for genetics education and the potential biases it can perpetuate.

Mendel's pea experiments are often oversimplified in genetics education.
Weldonian genetics emphasizes the spectrum nature of traits, contrasting with the binary approach of Mendelian genetics.
Reframing genetics education to start with Weldonian genetics could offer a more nuanced understanding of genetic complexity.

Shownotes Transcript

We’re back from the American Society of Human Genetics (ASHG) 2024 Annual Meeting) in beautiful Denver, Colorado! This episode recaps the highlights, discussions, and discoveries from five packed days of cutting-edge genetics and genomics science. Every year, ASHG brings together researchers, clinicians, students, and industry leaders to share advancements, and this year was no exception.

In this recap, our Kira Dineen reflects on the vibrant atmosphere at ASHG and shares conversations with conference attendees, each offering unique perspectives on the sessions and workshops they found most impactful. We had the chance to connect with some familiar faces, including previous podcast guests and sponsors, as well as meet new colleagues who shared inspiring insights into the future of genetics.

You might notice some background chatter—it captures the energy and dynamism of ASHG’s bustling exhibit hall and session rooms!

Presentations Recapped

“Mendel’s Peas as Exemplar or Exception” by Dr. Gregory Radick)

“Sickle Cell Disease: A Journey Through the Complexitites of Genetics” by Dr. Athena Starland-Davenport

Resources

Disputed Inheritance: The Battle over Mendel and the Future of Biology By Dr. Gregory Radick)

“The Genetics Podcast” By Sano Genetics) (Hear Kira’s most recent appearance on Ep 134))

Science Geek Games’ Variation – A DNA Matching Card Game)

NIH Small Business Funding/Grants)

Episode Referrenced

#157 NSGC 2021 Recap)

#191 Overturning Roe v. Wade with Laura Hercher)

#284 IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher)

#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1)

#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2)

#305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”)

#307 NSGC 2024 Recap)

Fact Check

Kira estimated that Mendel was studying genetics through peas in the 1800s, and she was right. For eight years, starting in 1857, Medel studied the peas he grew in the garden of his monastery.

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts), Spotify), streaming on the website), or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel), this includes some episodes recorded at NBC Universal Stamford Studios.

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram), X (Twitter)), Threads), LinkedIn), Facebook), YouTube) and our website, DNAToday.com). Questions/inquiries can be sent to [email protected]).

#314 ASHG 2024 Recap 25:55 Share