News and Events

Dr. Kamal Khan completes his doctoral work  

December 23, 2020

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! 

 

PCM1 is a candidate genetic contributor to severe schizophrenia and treatment resistance

November 24, 2020

In Nature Commumications, ACT-GeM authors detail a new genetic contributor to schizophrenia with implications for why a subset of people experience treatment resistance. 

“Most scientists would agree that schizophrenia is not a single disease, but rather the manifestations of hundreds of diseases put together. In that respect, large genome-wide sweeps help us discover common truths about the end disease, but not about its subtypes... A single approach, genetic or biological, is not going to provide sufficient resolution to understand this disorder.”

        -Senior author Nico Katsanis, describing the road ahead for schizophrenia research

Contributors from ACT-GeM include lead author, Tanner O. Monroe, alumni co-authors Maria Kouzi, Melanie Garrett, Sungjin Moon, Karen Soldano, and and senior author Nicholas Katsanis. 

Click here for more information.

Additional genetic variation observed in patients with a Bardet-Biedl Syndrome (BBS) diagnosis 

October 12, 2020

A new ACT-GeM discovery details additional disease-associated variants found in at least 20% of BBS cases that may contribute to disease potency. 

“It is imperative that we broaden our search for answers beyond the single causal gene.”

        -Senior author Nico Katsanis, describing the impact behind the discovery recently published in Nature Genetics

Contributors from ACT-GeM include alumni lead author, Maria Kousi, alumni co-authors Niki Mourtzi, Azita Sadeghpour, and Kelsey McFadden, and faculty  Erica Davis and senior author Nicholas Katsanis. 

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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 faculty Nicholas Katsanis 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.

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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. 

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Nico Katsanis speaks at the 2020 virtual BBS Conference hosted by Marshfield Clinic

beginning June 14, 2020

In the third week of the BBS Conference, Nico Katsanis answers questions from the BBS community and provides the latest perspective on the search for a cure. 

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Georgios Kellaris named 2020 Mary J.C. Hendrix Outstanding Graduate Student

June 5, 2020

Congratulations to Georgios for recognition of his work on “The Genetic Architecture of Congenital and Neurodevelopmental Disorders”. Click here for more information.

The American Society of Human Genetics Conference, 2019

October 15-19, 2019

ACT-GeM faculty and trainees will present at the annual meeting of the ASHG in Houston, Texas. Click here for more information.

Tanner Monroe, PhD receives T32 fellowship

September 28, 2019

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.

Gordon Research Conference for Human Genetics and Genomics

July 7-12, 2019

The 2019 edition of the Human Genetics and Genomics Gordon conference in Waterville Valley was held under the chairmanship of ACT-GeM Director, Professor Nicholas Katsanis. Click here for more information.