Congratulations to Dr. Kamal Khan, who successfully defended his thesis "The Intersection of Genetic and Functional Approaches to Understand Congenital Multisystemic Inherited Disorders".
Dr. Khan has collaborated with the ACT-Gem for many years, and will receive his degree from the National Institute for Biotechnology and Genetic Engineering in Faisalabad, Pakistan. Both institutes and all of his family, friends, and colleagues wish Kamal much success as he continues to pursue new scientific endeavors.
Job well done, Kamal!
Defects in mRNA splicing discovered as source of a rare intellectual disability syndrome
October 5, 2020
Northwestern Feinberg School of Medicine recognizes ACT-GeM discovery detailing the functional cause of a rare intellectual disability disorder called Armfield XLID Syndrome.
“This finding offers much needed information for the five families with children affected by this rare condition. For the original Armfield XLID family, this has been a more than 20-year journey toward a definitive answer.”
-Co-senior author Erica Davis, discussing the journey behind the discovery recently published in Nature Communications.
Contributors from ACT-GeM include co-lead author, Kamal Khan, co-author Marie Mooney, and co-senior author Erica Davis. This work was performed in collaboration with co-senior investigators at Greenwood Genetic Center in South Carolina and Chungnam National University in South Korea.
Farid Ullah named American Society for Human Genetics (ASHG) semifinalist for the 2020 Charles J. Epstein Trainee Award for Excellence in Human Genetics Research
August 4, 2020
Congratulations to Farid. His abstract, “Mutations in the DNA repair complex genes SMC5 and SLF2 cause chromosomal abnormalities leading to syndromic microcephaly" was in the top 15% of predoctoral candidates, earning him a cash award and complimentary registration for the ASHG meeting in October.
We are delighted to announce that ACT-GeM post-doc associate, Dr. Tanner Monroe was awarded an NIH T32 fellowship in the Northwestern University Scientist Training Program in Kidney Disease (NUKIDs). Click here for more information.
The Advanced Center for Translational and Genetic Medicine (ACT-GeM) moves in
August 16, 2019
Equipment, freezers, animals, and a team of eleven have arrived in the newly constructed and state-of-the art Simpson Querrey Biomedical Research Building Center in downtown Chicago. Click here for more information.