neurology.org/doi/10.1212/NX…

Good timing on the heels of our AAN ATP1A2/ATP1A3 presentation - another collaboration with Sho Yano and colleagues on an atypical ATP1A3 phenotype, paroxysmal weakness and weakness without fever.

Glad to see our chapter on ‘Molecular genetic mechanisms of neurodevelopmental and neurodegenerative diseases’ now available in Pastores’ Neurogenetics for the Practitioner! Enjoyed working on it with Dana Marafi & LupskiLab. Hope it’s helpful for neuroscientists & geneticists!

Dr. Huda Zoghbi discusses a 'new era' for treating untreatable diseases. n.pr/3UjntNK. #geneticdiseases

Dr. Shinya Yamamoto of BCM Department of Molecular and Human Genetics and UDN Model Organism Screening Center talking about #MARRVEL and other tools used in #Undiagnosed #Hackathon events to help crowdsource diagnoses for #RareDisease patients. 🪰🪱🐠🧬🦓UDN PEER Udninternational Undiagnosed Diseases Network Foundation (UDNF) Wilhelm Foundation

We had a fantastic lab retreat Rice Computer Science on Sat with Todd J Treangen Sonia Villapol, Ph.D. 🔬🧠 Graham Erwin. Many great talks and posters! Amazing overlap of interests between BCM HGSC Rice Computer Science BCM Department of Molecular and Human Genetics Houston Methodist
For sure wont be the last one! Many thanks to everyone
Texas Medical Center

Baylor College of Medicine's Dr. Paul Klotman talks to special guest Dr. Ben Arenkiel, who talks about his research focusing on neural circuits in the brain. bit.ly/3Wg52fs #brain

.BCM_Surgery, Baylor Genetics & BCM HGSC announced funding of a Seed Grant in hopes to increase collaboration between BCMHouston depts. Group presentations provided attendees with synopses of the multitude of #research and projects to showcase opportunities.

Analysis and benchmarking of small and large genomic variants across tandem repeats go.nature.com/4bffVCr

Tandem repeat Genome in a Bottle benchmark Nature Biotechnology out today: rdcu.be/dFQNN . Characterization of 1.7 million TR + benchmark variants + new method to overcome var. representation issues! Great work lead by Adam E. BCM HGSC & great collab. from so many! (1/4)

This week in nature, Olga Dudchenko 🇺🇦 and thednazoo team join with Ricardo Mallarino and Jorge Moreno 🪼 to study the evolution of gliding in marsupials. Beautiful example of how rapid genome assembly enables new model organisms (here, sugar glider) for a specific problem.

Learn how researchers are trying to make diagnosing rare Mendelian disorders more efficient using artificial intelligence. bit.ly/3JAcqLa #AI #Genetics BCM Department of Molecular and Human Genetics Baylor Genetics

Congratulations to our fearless and outstanding leader, Dr. Brendan Lee, on his election to the American Academy of Arts and Sciences @AmericanAcad in the class of Biological Sciences - Medical Sciences. Read more of the new member announcement here: amacad.org/new-members-20…

Today let's celebrate #DNA ! April 25 is National DNA Day! Find out more about National DNA Day here: genome.gov/dna-day #DNA Day2024

#ASHG was happy to host leaders Bruce Gelb, MD, Sarah Tishkoff, PhD, Brendan Lee, MD, PhD, and Heather Mefford, MD, PhD, on a trip to Capitol Hill to speak with representatives about the importance of human genetics and genomics research.

🧬April 25th is DNA Day!🧬

GREGoR Consortium Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) seeks to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders

Learn more on our website:
gregorconsortium.org

Last week, the BCM HGSC hosted a group of students from MD Anderson's Molecular Genetics Technology program. The students visited the labs and learned more about our #genomic research and the advanced tech behind it.

MD Anderson Cancer Center BCMHouston From the Labs at Baylor College of Medicine

The AllofUsResearch Program is launching the Faith-based Community Conversation on the Value of Genetic Research, a series discussing health research with local Black/African American communities.

Join us for this free, in person event: bit.ly/3TD3OcM