#296 Epigenetics and Beyond: Dr. John Greally's Journey

In this special episode, Kristina Inman, a recent graduate of Sarah Lawrence College's genetic counseling program, interviews Dr. John Greally, a leading figure in the field of genetics and pediatrics. Kristina Inman delves into Dr. Greally’s groundbreaking work and personal journey.

Dr. John Greally, is the director of the Center for Epigenomics, Professor of Genetics and Pediatrics, and Chief of Division of Computational Genetics at the Albert Einstein College of Medicine and the Children's Hospital at Montefiore in the Bronx.. He is also co-directing the new NORD Center of Excellence, the NY Center for Rare Diseases, with Dr. Melissa Wasserstein.

Episode Highlights:

Introductions:

• Overview of Dr. Greally’s professional background and the new initiatives he's leading, including the NY Center for Rare Diseases.
• The connection through guest host Kristina Inman’s graduate thesis work and the relevance of genetic counseling in their lives.

Professional Work:

• An in-depth look at the NY Center for Rare Diseases and its mission.
• Discussing the critical issues of genomic privacy and health equity in genomics.
• Exploring Genomic Tech/GenomeDiver and their impact on the field.

Personal Journey:

• Dr. Greally shares his research background and the inspiration behind his upcoming book on epigenetics.
• His thoughts on the portrayal of epigenetics in the media and the focus on functional non-coding variants (fNCVs) in his current research.
• Explanation of terms like “regulatory landscape” and “molecular quantitative trait loci (molQTL)” at an accessible level.
• Exciting collaboration with Google Research and Deep Mind to develop a machine learning model for identifying fNCVs.

• Dr. Greally's personal experience with his diagnosis, the emotions involved, and how it influenced his professional perspective.

Patient Care:

• The impact of Dr. Greally’s personal experience on his approach to patient care and his connection to families with congenital conditions.
• The implications of receiving a variant of uncertain significance (VUS) in genetic testing and its potential impact on patients.

Reflection & Advice:

• Dr. Greally reflects on his journey, lessons on resilience, the importance of genetic testing, and the potential benefits of universal genetic screening.
• Advice for patients dealing with similar conditions and for young professionals entering the field of genetics and genetic counseling.

Future Work:

• Insights into Dr. Greally’s future plans, upcoming projects, and areas of excitement in his work.
• Resources for listeners who want to learn more about Dr. Greally’s research and initiatives.

Check out Dr. Greally’s lab and follow Dr. Greally on LinkedIn. You can also check out our guest host Kristina Inman on LinkedIn.

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