BCM Department of Molecular and Human Genetics

05/08/2026

In April's Journal of Rare Diseases, Dr. Sarah Elsea and colleagues report a newly validated, caregiver‑informed tool to assess food‑related behaviors in Smith‑Magenis syndrome, supporting more accurate outcome tracking in future clinical trials.

Purpose Accurate measurement is essential for tracking changes in clinical outcomes. Individuals with Smith-Magenis syndrome (SMS) exhibit challenging and unique food-related behaviors. We sought to determine the best tool to capture their unique food-related behaviors. Methods We conducted focus gr...

05/05/2026

NORD’s Texas Rare Action Network and Baylor College of Medicine/Texas Children's Hospital Genetics invites you to join patients, families, caregivers, and other rare disease community members at The Health Museum this Saturday, May 9, from 11 a.m. to 2 p.m. for a family friendly event. Special thanks to our Platinum Sponsor Sanofi for helping make this event possible.

Register: https://bit.ly/49wtJtU

Attendees will have the opportunity to meet other patients and caregivers, get connected to community-based organizations, and enjoy the museum for free!

04/24/2026

Tomorrow, April 25, is DNA Day!
DNA Day celebrates the discovery of the DNA double helix and the completion of the Human Genome Project, highlighting how genetics and genomics continue to advance research, medicine, and education. It’s a great opportunity to recognize the scientists, clinicians, educators, and trainees working to better understand our DNA and improve human health.

04/24/2026

Congratulations to Dr. Ryan Dhindsa, who has received the Cure One, Cure Many Award from the American Brain Foundation! With support from this $2 million grant, Dhindsa will study potential connections between viral infections and Alzheimer’s disease. Read more about the award here: https://houston.innovationmap.com/baylor-alzheimers-virus-research-2676787526.html

04/22/2026

New research published in Molecular Cell: Anthony M. Mustoe and colleagues developed a one‑step method to reveal how RNA folds and binds proteins inside living cells, offering new insight into ribosome assembly and RNA biology.

A new method developed at Baylor College of Medicine and collaborating institutions allows researchers to better understand how RNA works. The method is a powerful strategy for identifying intricate RNA structures that are likely to have significant biological functions inside cells.

04/15/2026

Congratulations to the 2026 Arthur L. Beaudet Prize for Scholarship in Genetics winners: Rhys Duarte and David Curtis.
The prize recognizes excellence in scholarly achievement of individuals in the Genetics and Genomics Medical Student Pathway.

First Photo: David and Rhys with Dr. Beaudet
Second Photo: Dr. Daryl Scott (mentor to David), David Curtis, Arthur Beaudet, Rhys Duarte, Chaya Murali (mentor to Rhys) and Keren Machol, director of the Pathway.

04/07/2026

This powerful story from the National Urea Cycle Disorders Foundation shares one family’s journey with arginase 1 deficiency—and the years of advocacy, research, and perseverance that helped turn hope into progress with the first FDA‑approved treatment for this rare disease.

The treatment is built on foundational research led by Dr. Brendan Lee and Dr. Lindsay Burrage, whose work helped pave the way for a therapy that can finally address the underlying cause of ARG1-D.

This milestone highlights the impact of rigorous, long‑term research combined with committed clinical and patient partnerships.

🎉 Hope realized.

When Tanja Brandt's daughter was diagnosed with arginase 1 deficiency (ARG1-D) at age 5, there were no approved treatments — only a difficult diet, daily formula, and a slow progression of symptoms Tanja and her mother Chris watched helplessly.

That changed on February 23, 2026, when the FDA approved pegzilarginase (Loargys®)—the first treatment to address the root cause of ARG1-D.

Getting here wasn't easy. The road included a clinical trial interrupted by Covid, a devastating loss of drug access, a patient petition, and years of fierce advocacy by families who refused to give up.

Read the full story of how one family—and an entire rare disease community—fought to make this moment happen. 👇

https://nucdf.org/news.html/article/2026/04/07/from-diagnosis-to-hope-an-arg1-d-family-s-fight-for-a-rare-disease-treatment

"This is not just a milestone. This is hope realized." — Chris Zahn, Arginase Deficiency Foundation

03/24/2026

Congratulations to Dr. Lindsay Burrage and medical genetics and genomics resident, Dr. Omer Shlomovitz on their Baylor College of Medicine Power of Professionalism awards! Lindsay and Omer received their awards from Dr. Stacey Rose, Associate Director of the BCM Center for Professionalism last Friday March 20.

03/18/2026

Join us Tues March 31 at 7 p.m. at the Children's Museum Houston for Evenings with Genetics Seminar: "Sparking the powerhouse: understanding & treating mitochondrial disorders" with Drs. Fernando Scaglia, Keren Machol & Lisa Emrick. Co-sponsored by United Mitochondrial Disease Foundation (UMDF) Register: https://bit.ly/40MKLiI

03/16/2026

Congratulations to Dr. Huda Zoghbi for being named the inaugural recipient of the Nancy Lurie Marks Prize for Research!

The Lurie Autism Institute, a joint initiative of Children’s Hospital of Philadelphia (CHOP) and Penn Medicine created to drive discovery, develop new treatments, and improve the lives of individuals and families affected by autism, is proud to announce that geneticist Huda Y. Zoghbi, MD, has been...

03/16/2026

Research from Baylor College of Medicine's Department of Molecular and Human Genetics helped lay the groundwork for LOARGYS, now FDA approved for the treatment of hyperargininemia in patients ages 2+ with Arginase 1 Deficiency (ARG1‑D), based on reduction of plasma arginine. Read the original From the Labs story:

The story behind the discovery that led to the novel treatment revealed that scientific breakthroughs can sometimes happen in unexpected ways.