---
title: "Podcast recap: Q2 insights with Dr. Veera Rajagopal"
description: Discover the latest breakthroughs in genetics and precision medicine research with Dr. Veera Rajagopal on The Genetics Podcast.
---

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# [Podcast recap: Q2 insights with Dr. Veera Rajagopal](https://sanogenetics.com/resources/blog/podcast-recap-q2-insights-with-dr-veera)

 Written by [Patrick Short, PhD](https://sanogenetics.com/resources/blog/author/patrick-short) | Jul 26, 2024 7:01:16 PM

In the most recent episode of The Genetics Podcast, Sano CEO Dr. Patrick Short explored the latest discoveries in genetics and precision medicine with returning guest Dr. Veera Rajagopal. Dr. Veera, a scientist at [Regeneron](https://www.regeneron.com/) and quarterly guest on our podcast, provided insights into recent influential studies reshaping our understanding of genetic disorders and their implications for medical treatment.

### A milestone discovery in neurodevelopmental disorders

Dr. Veera kicked off the discussion by highlighting a remarkable discovery in the field of neurodevelopmental disorders. Researchers from the University of Oxford and the Broad Institute, in collaboration with Genomics England, [identified a recurrent de novo mutation in a small nuclear RNA gene that is a significant cause of neurodevelopmental disorders](https://www.ndm.ox.ac.uk/news/new-discovery-renews-hope-for-thousands-with-neurodevelopment-disorders). This mutation is present in about 0.5% of all neurodevelopmental disorder cases, which translates to potentially thousands of families globally.

This discovery is groundbreaking for several reasons:

1. High recurrence of a rare mutation: The mutation, although de novo, is recurrent and extraordinarily common, making it a significant genetic cause of neurodevelopmental disorders.

2. Non-coding genome: The mutation is in a non-coding region, emphasizing the importance of non-coding areas in genetic research.

3. Therapeutic implications: This finding opens avenues for developing targeted treatments, given the large patient population affected by this single mutation.

### New insights into Parkinson's disease

The conversation then shifted to an exciting development in Parkinson's disease research. A recent study [identified a gene, RAB32, that is directly linked to familial Parkinson's disease](https://www.nature.com/articles/s41588-024-01787-7). This gene interacts with the well-known LRRK2 gene, a major player in Parkinson's disease. The discovery was made through an exome-wide association study that highlights the gene’s significance in the disease’s pathology.

Key points include:

1. Genetic interaction: *RAB32*’s interaction with *LRRK2* opens new pathways for understanding the disease mechanism.

2. Drug development: The identification of *RAB32* as a significant factor could influence new therapeutic strategies, potentially targeting both *LRRK2* and *RAB32*.

### Breakthrough in Early-Onset Lupus

Dr. Veera also shared insights on a recent study published in Nature Immunology, which[ identified variants in the UNC93B1 gene as a monogenic cause of early-onset systemic lupus erythematosus](https://www.nature.com/articles/s41590-024-01846-5) (SLE). This discovery was supported by parallel findings from research groups in China and Germany.

Here's why this discovery is significant:

Genetic understanding: Provides a deeper understanding of the genetic basis of early-onset lupus.  
Therapeutic potential: Opens up new possibilities for targeted therapies using existing drugs that modulate *TLR7* signaling, crucial for patients with these specific genetic variants.

### The future of Alzheimer's research

The final discussion focused on recent advancements in Alzheimer’s disease research. [A study on individuals carrying the APOE3 Christchurch variant](https://www.nih.gov/news-events/nih-research-matters/gene-variant-slows-form-inherited-alzheimer-s-disease) provided further evidence and insights into how this variant might protect against Alzheimer's.

Highlights include:

1. Protective variant: The *APOE3* Christchurch variant appears to delay the onset of cognitive impairment and offers protective effects even in heterozygous carriers.

2. Implications for therapy: This reinforces the potential of targeting *APOE3* in therapeutic strategies, providing hope for more effective treatments for Alzheimer's disease.

### Summary

This episode of The Genetics Podcast highlighted the rapid advancements in genetic research and their profound implications for precision medicine – from groundbreaking discoveries in neurodevelopmental disorders and Parkinson's disease to significant breakthroughs in early-onset lupus and Alzheimer's. We're already looking forward to having Dr. Veera on next quarter!

Don’t forget to check out Dr. Veera’s substack, [GWAS Stories](https://www.gwasstories.com/), and his Twitter, [@doctorveera. ](https://x.com/doctorveera?ref_src=twsrc%5Egoogle%7Ctwcamp%5Eserp%7Ctwgr%5Eauthor)

### Listen here:

 

[View full post](https://sanogenetics.com/resources/blog/podcast-recap-q2-insights-with-dr-veera)

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