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S2 E11: Physician-Scientist Herb Lachman, MD, Talks about Recent Genetic Observations in PANS: DNA Damage Response Genes

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Manage episode 468084193 series 3567249
Content provided by Susan Newman Manfull, PhD and Susan Newman Manfull. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Susan Newman Manfull, PhD and Susan Newman Manfull or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ppacc.player.fm/legal.

Dr Herb Lachman is a physician, behavioral geneticist, and professor at the Albert Einstein College of Medicine in New York City. In his 44 years on the faculty, he has studied the molecular basis of schizophrenia, autism, and the broad category of neurodevelopmental disorders. More recently, a serendipitous inquiry about a major DNA Damage Response Gene, PPMD1, prompted Dr. Lachman to shift his focus to PANS (Pediatric Acute-Onset Neuropsychiatric Syndrome).

In the 11th episode of “Untangling PANDAS and PANS,” we discuss some basic information about genetics so that laypersons with an interest in this subject are able to assimilate his findings about DNA damage repair genes and their potentially significant role in neuropsychiatric conditions. These genes not only underscore the complexity of PANS and PANDAS but also point to the multifaceted interplay between genetics and the immune system at the intersection of the brain.

Genes are surely Dr. Lachman’s muse. He is quick to acknowledge that his sample sizes are small and biased, but they are nonetheless generating hypotheses to study more fully with larger data sets.

The simple question of why, given the ubiquity of Group A Strep, does only a small subset of patients develop PANDAS? Genetic mutations will very likely help to provide answers in the future.

To learn more about Dr. Herb Lachman's recent genetics findings on PANS, please refer to these two articles:

https://karger.com/dne/article/doi/10.1159/000541908/914745/Ultrarare-Variants-in-DNA-Damage-Repair-Genes-in

https://pubmed.ncbi.nlm.nih.gov/35773312/

Disclaimer: The views and opinions expressed in this program are those of the speakers and do not necessarily reflect the views or positions of any entities they represent.
Credits: Music by Kingsley Durant from his "Convertible" album
To learn more about PANDAS and PANS and The Alex Manfull Fund, visit our website: TheAlexManfullFund.org
Follow us on:
Facebook
Instagram
LinkedIn

  continue reading

Chapters

1. S2 E11: Physician-Scientist Herb Lachman, MD, Talks about Recent Genetic Observations in PANS: DNA Damage Response Genes (00:00:00)

2. Genetics of PANS and PANDAS (00:00:07)

3. Genetic Mutation Analysis in Diseases (00:15:56)

4. Identification of Autism-Linked DNA Repair Genes (00:32:53)

5. Genetic Mutations in Neuropsychiatric Disorders (00:38:10)

6. DNA Repair Mutations and Immune Activation (00:44:41)

7. Genetic Links Between Gut and Neuroinflammation (01:03:58)

17 episodes

Artwork
iconShare
 
Manage episode 468084193 series 3567249
Content provided by Susan Newman Manfull, PhD and Susan Newman Manfull. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Susan Newman Manfull, PhD and Susan Newman Manfull or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ppacc.player.fm/legal.

Dr Herb Lachman is a physician, behavioral geneticist, and professor at the Albert Einstein College of Medicine in New York City. In his 44 years on the faculty, he has studied the molecular basis of schizophrenia, autism, and the broad category of neurodevelopmental disorders. More recently, a serendipitous inquiry about a major DNA Damage Response Gene, PPMD1, prompted Dr. Lachman to shift his focus to PANS (Pediatric Acute-Onset Neuropsychiatric Syndrome).

In the 11th episode of “Untangling PANDAS and PANS,” we discuss some basic information about genetics so that laypersons with an interest in this subject are able to assimilate his findings about DNA damage repair genes and their potentially significant role in neuropsychiatric conditions. These genes not only underscore the complexity of PANS and PANDAS but also point to the multifaceted interplay between genetics and the immune system at the intersection of the brain.

Genes are surely Dr. Lachman’s muse. He is quick to acknowledge that his sample sizes are small and biased, but they are nonetheless generating hypotheses to study more fully with larger data sets.

The simple question of why, given the ubiquity of Group A Strep, does only a small subset of patients develop PANDAS? Genetic mutations will very likely help to provide answers in the future.

To learn more about Dr. Herb Lachman's recent genetics findings on PANS, please refer to these two articles:

https://karger.com/dne/article/doi/10.1159/000541908/914745/Ultrarare-Variants-in-DNA-Damage-Repair-Genes-in

https://pubmed.ncbi.nlm.nih.gov/35773312/

Disclaimer: The views and opinions expressed in this program are those of the speakers and do not necessarily reflect the views or positions of any entities they represent.
Credits: Music by Kingsley Durant from his "Convertible" album
To learn more about PANDAS and PANS and The Alex Manfull Fund, visit our website: TheAlexManfullFund.org
Follow us on:
Facebook
Instagram
LinkedIn

  continue reading

Chapters

1. S2 E11: Physician-Scientist Herb Lachman, MD, Talks about Recent Genetic Observations in PANS: DNA Damage Response Genes (00:00:00)

2. Genetics of PANS and PANDAS (00:00:07)

3. Genetic Mutation Analysis in Diseases (00:15:56)

4. Identification of Autism-Linked DNA Repair Genes (00:32:53)

5. Genetic Mutations in Neuropsychiatric Disorders (00:38:10)

6. DNA Repair Mutations and Immune Activation (00:44:41)

7. Genetic Links Between Gut and Neuroinflammation (01:03:58)

17 episodes

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