Created and Edited by: Kevin E. Glinton MD PhD

BAYLOR COLLEGE OF MEDICINE APRIL 9, 2019

Features and Phenomes Newsletter of the Baylor College of Medicine Genetics and Genomics Pathway

Genetics in the News:Stories and Commentaries about Genetics and Society

D o c t o r s h a v e b e e n fascinated for well over 100 years by the cases of patients with abnormal nociception - that is the ability to feel pain. Particularly in light of the present opioid crisis, the need to learn more about pain and its management continues to grow. Recently, a group of scientists out of Univers i ty Col lege London described a woman who at the age of 71 years, had never experienced pain or anx ie ty. The pa t i en t had amazing given birth to two children and had undergone orthopedic surgery all with minimal anesthesia.

As it turns out, the woman carries a common hypomorphic allele in the gene FAAH along with a rare microdeletion in the pseudogene FAAH-OUT. FAAH or fatty-acid amide hydrolase is responsible for the degradation of several endocannabinoids including anandamide. Anandamide has important roles in fear-

extinction memory, anxiety, depression and nociception. FAAH blockers therefore have been proposed in the past to be an attractive target for drug development however none of these compounds have yet made it to market. While the patient herself never really thought much of her condition, her physicians only grew more and more excited as she talked about all the things she never really experienced: hot chili peppers, arthritis pain and anxiety or worry. Not only has her case

revealed an entirely new gene, it has also reopened the search for FAAH-antagonists and alternative

ways to treat pain. It has also interestingly raised important questions as to the underlying role that pain plays in the development of anxiety. Whether the two are processed the same way or simply mutually propagating remains to be seen.

Congrats to the students who were able to present and attend this year’s conference: Scott Lee,

Trevor Hadley, Shiv Patel and Vittoria Rossi

Conferences Clinical Genetics Seminar:

Mondays, 3PM (M112) Apr 8 - Laura Ellis, MS

Apr 15 - Caridad Martinez, MD Apr 22 - Seema Lalani, MD and Yehoshua

Manor, MD PhD Apr 29 - Keren Machol, MD

Molecular and Human Genetics Seminar:

Tuesdays, 12PM (M112)

Post-Clinic Conference: Thursdays, 4PM (Feigin 1st floor)

Friday Noon Conference: Fridays, 12PM (Baylor 301A)

Apr 12- Hadley Smith Apr 19 - Brian Shayota, MD MS

Apr 26 - Baylor Genetics Lab Signout

ASHG Annual Meeting 2019

This year’s ASHG Annual Meeting will be held right here in Houston. Abstract submission will

open in Mid April. Details here.

Living Rare, Living Stronger NORD Patient & Family Forum

Join NORD this June for a very special gathering of people living with rare diseases, and the

medical professionals working to help improve their lives. Details here.

Gene Therapy NewsFor families of boys with Duchenne Muscular

Dystrophy, news of this diagnosis can be heartbreaking. Hope has emerged however with the growing number of clinical trials investigating gene therapies as a way of correcting the underlying disease. These trials however understandably have very stringent inclusion criteria. For ineligible patients or patients not yet eligible, this can be news just as devastating as the initial diagnosis. These criteria are in place however to protect not just patients from adverse effects but also the companies themselves. You can learn more about gene therapies here.

ACMG 2019

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Credit: Mary Turner for The New York Times