BCM Department of Molecular and Human Genetics

Shout out to Dr. Nikhita Gogate of the Posey & Gibbs labs. Congratulations on your successful dissertation! Nikhita’s dissertation was “Deciphering Rare Diseases: Genomic and Phenotypic Complexities.” 🥳 #genetics #genomics #PhD

Congratulations to Dr. Andy Rivera-Munoz of the Posey lab on your successful dissertation! Andy’s dissertation was “Advancing Rare-Disease Genomics for Diagnosing Developmental Disorders.” 🥳 #genetics #genomics #PhD

Center for Precision Medicine Models receives $10 million NIH grant Baylor College of Medicine’s Center for Precision Medicine Models has received a five-year, $10 million grant from the National Institutes of Health...

Congratulations to the Center for Precision Medicine Models Team @bcmhouston.bsky.social on receiving a 5 year $10 Million grant from the National Institutes of Health to continue its work using precision models to study #RareDisease!

www.bcm.edu/news/center-...

Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy Ethylmalonic encephalopathy (EE) is an often-severe inborn error of metabolism caused by biallelic variants in the ETHE1 gene leading to impaired deto…

In a new study on ethylmalonic encephalopathy, published in Mol Genet Metab Rep. shows that a low-sulfur diet had only a small effect in patients already treated with antibiotics, supplements, and liver transplant. Dr. Fernando Scaglia is senior author. www.sciencedirect.com/science/arti...

Fruit flies offer new insights into how human Alzheimer’s Disease risk genes affect the brain Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital offer...

#FruitFlies offer new insights into how human #AlzheimersDisease risk #genes affect the #brain. J. Deger, J. Shulman, H. Bellen et al. #bcmneurology #bcm_neurosci @bcmgenetics.bsky.social #TCHResearchNews @ajhgnews.bsky.social www.bcm.edu/news/fruit-f...

Are you interested in the link between #polyglutamine and #neurodegeneration? E. Villavicencio & H. Zoghbi have just published a #review about it. @jem.org @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social @bcmneurosci.bsky.social rupress.org/jem/article/...

Tulika Singh Studying why infections make some people sicker than others

Congratulations to Dr. Tulika Singh of the 2024-2025 class of the @bcmhouston.bsky.social All of Us Biomedical Scholars Program and the UC Berkeley School of Public Health, who was just named a 2025 @statnews.com Wunderkind! www.statnews.com/wunderkinds/...

James G. Robinson at Podium

The title of the talk given by James G Robinson was "Humanity, Medicine & Genetics: A Parent's Perspective."

Picture of James G. Robinson's memoir "More Than We Expected: Five Years with a Remarkable Child"

Dr. Chaya Murali, Susan Fernbach, and James G. Robinson

The Susan Fernbach Lecture for Humanism in Genetics was established in her honor for her outreach efforts for the genetics community. James G. Robinson, the author of More than We Expected: Five Years with a Remarkable Child, delivered the 2025 lecture this past Friday.

Congratulations to Dr. Morgan Stephens of the Botas lab on your successful dissertation! Morgan’s dissertation was “Computational, Functional, and Mechanistic Investigations Identify Novel Therapeutic Targets for Alzheimer’s Disease.” 🥳 #genetics #genomics #PhD

Oct. is Breast Cancer Awareness Month. We honor those affected by highlighting the importance of awareness, early detection, & research. While anyone can be at risk, genetics play a powerful role in understanding that risk. Visit Consultagene for info: consultagene.org/news

Congratulations to Dr. Duncan Fox of the Jafar-Nejad lab on your successful dissertation! Duncan’s dissertation was “The Role of SOX4 in Biliary Development and as an Effective Therapeutic Target in Alagille Syndrome.” 🥳 #genetics #genomics #phd

Researchers show benefit of ultra-deep RNA sequencing in Mendelian disorder diagnostics RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been...

Researchers show benefit of ultra-deep #RNA sequencing in #Mendelian disorder #diagnostics. PF Liu et al @bcmhouston.bsky.social @bcmgenetics.bsky.social @ajhgnews.bsky.social www.bcm.edu/news/researc...

Dr. Sharon Plon, Dr. Ronit Marom, Dr. Graham Erwin, Dr. Brendan Lee and Dr. Christine Eng at the @bcmgenetics.bsky.social and Baylor Genetics party #ASHG25 Kick off party.

Tuesday night's @bcmgenetics.bsky.social and Baylor Genetics party was a great way to kick off #ASHG25 conference in Boston, MA. If you are at ASHG, visit the Baylor Genetics at booth 556!

Check out posters from the Baylor Genetics Team at #ASHG25 Halls A & B 2:30 p.m. - 4:30 p.m. ET Wed: Maddie Gillentine PhD & Weimin Bi, PhD; Thurs: Darwin Argueta, MS, CGC, NIkhita Gogate PhD, & Mei Ling Chong, PhD; Friday: Rob Rigobello, MS, CGC, Keri Callegari, PhD, & Haowei Du, Msc, PhD #ASHG2025

Congratulations to Dr. Nicole Wang of the Cheng lab on your successful dissertation! Nicole’s dissertation was “Unveiling the mechanisms of circulating tumor cell clustering.” 🥳 #genetics #genomics #PhD

Neurons in a Huntington's brain Dr. Juan Botas's lab integrates laboratory, animal model and computational approaches to gain a deeper understanding of Huntington's disease and other neurological disorders.

The #ImageoftheMonth is a view through the microscope of #neurons from the brain cortex of a mouse model of #HuntingtonsDisease, courtesy of Dr. Juan Botas Lab. @bcmhouston.bsky.social @bcmgenetics.bsky.social #TCHResearchNews blogs.bcm.edu/2025/10/14/f...

First approved drug for mitochondrial disease could pave way for more treatments Researchers are testing multiple treatments for the rare genetic conditions

First approved drug for #mitochondrialDisease could pave way for more treatments. @bcmhouston.bsky.social researcher Dr. F. Scaglia comments on these emerging new treatments tinyurl.com/jb8bu2pd @bcmgenetics.bsky.social @science.org

Congratulations to Dr. Sharon Plon who was awarded the 2025 Arthur L Beaudet Outstanding Mentorship Award this past Monday! Her talk was titled "Genetic Predisposition to Cancer: From Single Gene Sequencing to Exomes on a Cell Phone". See photos from the event below.

Congratulations to Dr. Kevin Wilhelm of the Lichtarge lab on your successful dissertation! Kevin’s dissertation was “A Meta-Evolutionary Framework for the Discovery and Functional Prioritization of Complex Disease Risk Genes.” 🥳 #genetics #genomics #PhD

Congratulations to Dr. Matthew Cooke of the Herman lab on your successful dissertation! Matthew’s dissertation was “Transcriptional Determinants of Microbial Genome Stability” 🥳 #genetics #genomics #PhD

TMC collaboration: training new kidney, urologic and hematologic researchers Texas Medical Center researchers are working together to strengthen the pipeline for future kidney, urologic and hematologic (KUH) research. Baylor College...

#TXMedCenter collaboration to train new #kidney, #urologic and #hematologic researchers. #HAIKUH @bcmhouston.bsky.social #Goodell_Lab @bcmgenetics.bsky.social www.bcm.edu/news/tmc-col...

Dr. Graham Erwin @grahamerwin.bsky.social receives NIH New Innovator Award! www.bcm.edu/news/dr-grah... @bcmhouston.bsky.social @bcmgenetics.bsky.social #BCMCancerCenter

NIH awards Baylor more than $15 million to fund two rare diseases consortia The funding is to renew the Brittle Bone Disorders Consortium for five years and to launch the Rare Organic Acidemias Research Consortium.

NIH awards Baylor more than $15 million to fund two #rareDiseases consortia. @bcmhouston.bsky.social @bcmgenetics.bsky.social @rarediseasesint.bsky.social blogs.bcm.edu/2025/09/30/f...

Medical Genetics Multiomics Laboratory The Medical Genetics Multiomics Laboratory (MGML) is an academic clinical genetic testing laboratory from Baylor College of Medicine. The MGML supports...

Big news! The Medical Genetics Multiomics Lab (www.bcm.edu/departments/...) @bcmhouston.bsky.social has earned CAP accreditation, recognizing its excellence in lab quality and patient care. Congrats to Dr. Pengfei Liu and the team! 👏 #Genetics #LabExcellence

Congratulations to Dr. Matthew Alvos of the Botas lab on your successful dissertation! Matthew’s dissertation was “Targeting SERPINs as a therapeutic strategy to ameliorate neurodegenerative disease.” 🥳 #genetics #genomics #PhD

AI connects mutations, protein modifications and disease The new AI tool, called DeepMVP, significantly outperforms previously published models and has implications for the development of novel therapeutics.

#DeepMVP improves the ability to predict gene #mutations that may lead to #disease. B. Zhang, C. Wang et al #naturemethods @bcmgenetics.bsky.social @bcmhouston.bsky.social #BCMCancerCenter blogs.bcm.edu/2025/09/09/f...

The GReAT Job Award recipients for January - June 2025 are Darwin Argueta, Ashley Hirt, and Lauren Westerfield.

Genetic Resource Association of Texas (GReAT) Job Awards acknowledge @bcmhouston.bsky.social employees who go above and beyond regular job responsibilities in service of @bcmgenetics.bsky.social mission to transform medicine with the science and practice of genetics and genomics.

Congratulations to Dr. Shenglan Li who was named the recipient of the 2025 The Shan and Lee-Jun Wong Fellowship Award! This award provides support to senior postdocs & junior faculty who focus on mitochondrial and/or cancer biology, especially translational science & diagnostics.