BCM Department of Molecular and Human Genetics
@bcmgenetics.bsky.social
The Department of Molecular and Human Genetics at Baylor College of Medicine is transforming medicine, research, and education in genetics and genomics.
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...
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…
www.sciencedirect.com
November 3, 2025 at 10:15 PM
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...
Reposted by BCM Department of Molecular and Human Genetics
#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...
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...
www.bcm.edu
October 29, 2025 at 4:31 PM
#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...
Reposted by BCM Department of Molecular and Human Genetics
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/...
October 29, 2025 at 8:49 PM
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/...
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/...
Tulika Singh
Studying why infections make some people sicker than others
www.statnews.com
October 28, 2025 at 3:50 PM
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/...
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.
October 28, 2025 at 3:18 PM
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.
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
October 22, 2025 at 9:13 PM
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
Reposted by BCM Department of Molecular and Human Genetics
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...
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...
www.bcm.edu
October 17, 2025 at 7:00 PM
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...
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!
October 16, 2025 at 3:52 PM
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
October 15, 2025 at 4:24 PM
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
Reposted by BCM Department of Molecular and Human Genetics
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...
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.
blogs.bcm.edu
October 14, 2025 at 4:24 PM
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...
Reposted by BCM Department of Molecular and Human Genetics
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
First approved drug for mitochondrial disease could pave way for more treatments
Researchers are testing multiple treatments for the rare genetic conditions
tinyurl.com
October 13, 2025 at 8:16 PM
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.
October 10, 2025 at 7:59 PM
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.
Reposted by BCM Department of Molecular and Human Genetics
#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...
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...
www.bcm.edu
October 7, 2025 at 9:30 PM
#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...
Reposted by BCM Department of Molecular and Human Genetics
Dr. Graham Erwin @grahamerwin.bsky.social receives NIH New Innovator Award! www.bcm.edu/news/dr-grah... @bcmhouston.bsky.social @bcmgenetics.bsky.social #BCMCancerCenter
October 8, 2025 at 7:22 PM
Dr. Graham Erwin @grahamerwin.bsky.social receives NIH New Innovator Award! www.bcm.edu/news/dr-grah... @bcmhouston.bsky.social @bcmgenetics.bsky.social #BCMCancerCenter
Reposted by BCM Department of Molecular and Human Genetics
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...
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.
blogs.bcm.edu
September 30, 2025 at 5:02 PM
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...
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
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...
www.bcm.edu
September 29, 2025 at 8:47 PM
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
Reposted by BCM Department of Molecular and Human Genetics
#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...
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.
blogs.bcm.edu
September 9, 2025 at 5:29 PM
#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 Rolanette and Berdon Lawrence Family Achievement in Genetics Awards recognize scientific, clinical, educational, and service achievements of @bcmgenetics.bsky.social
faculty, students/trainees, and administrative staff.
faculty, students/trainees, and administrative staff.
September 5, 2025 at 6:26 PM
The Rolanette and Berdon Lawrence Family Achievement in Genetics Awards recognize scientific, clinical, educational, and service achievements of @bcmgenetics.bsky.social
faculty, students/trainees, and administrative staff.
faculty, students/trainees, and administrative staff.
Congratulations to Dr. Pengfei Liu on receiving the 2025 Baylor College of Medicine Young Alumnus Award! Read more about this award and other alumni awards given by Baylor College of Medicine this past weekend. www.bcm.edu/news/baylor-...
September 3, 2025 at 9:55 PM
Congratulations to Dr. Pengfei Liu on receiving the 2025 Baylor College of Medicine Young Alumnus Award! Read more about this award and other alumni awards given by Baylor College of Medicine this past weekend. www.bcm.edu/news/baylor-...