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Center for Human Genetics & Genomics Center for Human Genetics & Genomics News

Center for Human Genetics & Genomics News

Stay up to date on the work of researchers in NYU Langone’s Center for Human Genetics and Genomics by reading the latest news and scientific publications.

Center for Human Genetics and Genomics Welcomes Inaugural Director Aravinda Chakravarti, PhD

In April 2018, celebrated geneticist Aravinda Chakravarti, PhD, joined NYU Langone as the inaugural director of the Center for Human Genetics and Genomics. Dr. Chakravarti is known for his seminal work on elucidating the complex genetic underpinning of human disease.

Under his leadership, the center will further explore how large-scale genetic analyses can inform the development of new targeted treatments. Dr. Chakravarti and his team aim to innovate genetic research by taking an interdisciplinary approach, working closely with faculty across NYU Langone.

Faculty Spotlight: Gilad D. Evrony, MD, PhD

Gilad D. Evrony, MD, PhD, a faculty member in the Center for Human Genetics and Genomics, was a featured lecturer in the Spotlight on Faculty seminar series hosted by Dafna Bar-Sagi, PhD, NYU Langone’s vice dean for science and chief scientific officer. Dr. Evrony discussed his research and the recently-launched Pediatric Undiagnosed Diseases Program, which he will co-direct.

“More than half of undiagnosed rare diseases will remain without a diagnosis, which means that most of those affected will likely not get the treatment that is best suited for their specific condition,” said Dr. Evrony in his talk.

The significance of his work is evident in the stories of his former patients, many of whom received definitive diagnoses through the use of genetic tools, allowing them to receive effective treatment for the first time.

Center for Human Genetics and Genomics Hosts Human Genetics in NYC Conference

In February 2019, the Center for Human Genetics and Genomics, under the leadership of Dr. Chakravarti, hosted the 7th Human Genetics in NYC conference at NYU Langone. The full-day event, which was attended by more than 400 researchers, ethicists, and other experts in human genetics from across New York City, is held biannually in collaboration with The Rockefeller University, Columbia University, and Icahn School of Medicine at Mount Sinai. This event drew more attendees than any other in its four-year history.

“Here at our new center, we have big ambitions to improve the science and clinical practice of human genetics,” said Dr. Chakravarti in his welcome remarks. Dr. Evrony also spoke, detailing his research focused on genetic conditions that lead to severe developmental abnormalities.

The conference featured scientific presentations on the progress, existing challenges, and areas of future direction in understanding the link between genetic mutations and human disease. Attendees also discussed the complex topic of communicating genetic results with patients and their families and providing them with relevant education and support.

Gilad Evrony, MD, PhD, Launches Pediatric Undiagnosed Diseases Program

Co-directed by John G. Pappas, MD, associate professor in the Department of Pediatrics, Dr. Evrony’s pioneering research program will enroll pediatric patients who have undiagnosed diseases, using advanced genomics technologies to find the molecular–genetic cause of their disease.

Recent Publications

Our faculty frequently publish the results of their research in leading peer-reviewed journals. Read their latest papers to learn more about our work.

High Levels of Interest in Reproductive Genetic Information in Parents of Children and Adults with Hirschsprung Disease

Berrios, Courtney D; Chakravarti, Aravinda; Biesecker, Barbara B

Journal of pediatric gastroenterology & nutrition. JPGN. 2019 Sep ; 69:299-305

A gene regulatory network explains RET-EDNRB epistasis in Hirschsprung disease

Chatterjee, Sumantra; Chakravarti, Aravinda

Human molecular genetics. 2019 Sep 15; 28:3137-3147

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

Sung, Yun Ju; de Las Fuentes, Lisa; Winkler, Thomas W; Chasman, Daniel I; Bentley, Amy R; Kraja, Aldi T; Ntalla, Ioanna; Warren, Helen R; Guo, Xiuqing; Schwander, Karen; Manning, Alisa K; Brown, Michael R; Aschard, Hugues; Feitosa, Mary F; Franceschini, Nora; Lu, Yingchang; Cheng, Ching-Yu; Sim, Xueling; Vojinovic, Dina; Marten, Jonathan; Musani, Solomon K; Kilpeläinen, Tuomas O; Richard, Melissa A; Aslibekyan, Stella; Bartz, Traci M; Dorajoo, Rajkumar; Li, Changwei; Liu, Yongmei; Rankinen, Tuomo; Smith, Albert Vernon; Tajuddin, Salman M; Tayo, Bamidele O; Zhao, Wei; Zhou, Yanhua; Matoba, Nana; Sofer, Tamar; Alver, Maris; Amini, Marzyeh; Boissel, Mathilde; Chai, Jin Fang; Chen, Xu; Divers, Jasmin; Gandin, Ilaria; Gao, Chuan; Giulianini, Franco; Goel, Anuj; Harris, Sarah E; Hartwig, Fernando P; He, Meian; Horimoto, Andrea R V R; Hsu, Fang-Chi; Jackson, Anne U; Kammerer, Candace M; Kasturiratne, Anuradhani; Komulainen, Pirjo; Kühnel, Brigitte; Leander, Karin; Lee, Wen-Jane; Lin, Keng-Hung; Luan, Jian'an; Lyytikäinen, Leo-Pekka; McKenzie, Colin A; Nelson, Christopher P; Noordam, Raymond; Scott, Robert A; Sheu, Wayne H H; Stančáková, Alena; Takeuchi, Fumihiko; van der Most, Peter J; Varga, Tibor V; Waken, Robert J; Wang, Heming; Wang, Yajuan; Ware, Erin B; Weiss, Stefan; Wen, Wanqing; Yanek, Lisa R; Zhang, Weihua; Zhao, Jing Hua; Afaq, Saima; Alfred, Tamuno; Amin, Najaf; Arking, Dan E; Aung, Tin; Barr, R Graham; Bielak, Lawrence F; Boerwinkle, Eric; Bottinger, Erwin P; Braund, Peter S; Brody, Jennifer A; Broeckel, Ulrich; Cade, Brian; Campbell, Archie; Canouil, Mickaël; Chakravarti, Aravinda; Cocca, Massimiliano; Collins, Francis S; Connell, John M; de Mutsert, Renée; de Silva, H Janaka; Dörr, Marcus; Duan, Qing; Eaton, Charles B; Ehret, Georg; Evangelou, Evangelos; Faul, Jessica D; Forouhi, Nita G; Franco, Oscar H; Friedlander, Yechiel; Gao, He; Gigante, Bruna; Gu, C Charles; Gupta, Preeti; Hagenaars, Saskia P; Harris, Tamara B; He, Jiang; Heikkinen, Sami; Heng, Chew-Kiat; Hofman, Albert; Howard, Barbara V; Hunt, Steven C; Irvin, Marguerite R; Jia, Yucheng; Katsuya, Tomohiro; Kaufman, Joel; Kerrison, Nicola D; Khor, Chiea Chuen; Koh, Woon-Puay; Koistinen, Heikki A; Kooperberg, Charles B; Krieger, Jose E; Kubo, Michiaki; Kutalik, Zoltan; Kuusisto, Johanna; Lakka, Timo A; Langefeld, Carl D; Langenberg, Claudia; Launer, Lenore J; Lee, Joseph H; Lehne, Benjamin; Levy, Daniel; Lewis, Cora E; Li, Yize; Lim, Sing Hui; Liu, Ching-Ti; Liu, Jianjun; Liu, Jingmin; Liu, Yeheng; Loh, Marie; Lohman, Kurt K; Louie, Tin; Mägi, Reedik; Matsuda, Koichi; Meitinger, Thomas; Metspalu, Andres; Milani, Lili; Momozawa, Yukihide; Mosley, Thomas H; Nalls, Mike A; Nasri, Ubaydah; O'Connell, Jeff R; Ogunniyi, Adesola; Palmas, Walter R; Palmer, Nicholette D; Pankow, James S; Pedersen, Nancy L; Peters, Annette; Peyser, Patricia A; Polasek, Ozren; Porteous, David; Raitakari, Olli T; Renström, Frida; Rice, Treva K; Ridker, Paul M; Robino, Antonietta; Robinson, Jennifer G; Rose, Lynda M; Rudan, Igor; Sabanayagam, Charumathi; Salako, Babatunde L; Sandow, Kevin; Schmidt, Carsten O; Schreiner, Pamela J; Scott, William R; Sever, Peter; Sims, Mario; Sitlani, Colleen M; Smith, Blair H; Smith, Jennifer A; Snieder, Harold; Starr, John M; Strauch, Konstantin; Tang, Hua; Taylor, Kent D; Teo, Yik Ying; Tham, Yih Chung; Uitterlinden, André G; Waldenberger, Melanie; Wang, Lihua; Wang, Ya Xing; Wei, Wen Bin; Wilson, Gregory; Wojczynski, Mary K; Xiang, Yong-Bing; Yao, Jie; Yuan, Jian-Min; Zonderman, Alan B; Becker, Diane M; Boehnke, Michael; Bowden, Donald W; Chambers, John C; Chen, Yii-Der Ida; Weir, David R; de Faire, Ulf; Deary, Ian J; Esko, Tõnu; Farrall, Martin; Forrester, Terrence; Freedman, Barry I; Froguel, Philippe; Gasparini, Paolo; Gieger, Christian; Horta, Bernardo Lessa; Hung, Yi-Jen; Jonas, Jost Bruno; Kato, Norihiro; Kooner, Jaspal S; Laakso, Markku; Lehtimäki, Terho; Liang, Kae-Woei; Magnusson, Patrik K E; Oldehinkel, Albertine J; Pereira, Alexandre C; Perls, Thomas; Rauramaa, Rainer; Redline, Susan; Rettig, Rainer; Samani, Nilesh J; Scott, James; Shu, Xiao-Ou; van der Harst, Pim; Wagenknecht, Lynne E; Wareham, Nicholas J; Watkins, Hugh; Wickremasinghe, Ananda R; Wu, Tangchun; Kamatani, Yoichiro; Laurie, Cathy C; Bouchard, Claude; Cooper, Richard S; Evans, Michele K; Gudnason, Vilmundur; Hixson, James; Kardia, Sharon L R; Kritchevsky, Stephen B; Psaty, Bruce M; van Dam, Rob M; Arnett, Donna K; Mook-Kanamori, Dennis O; Fornage, Myriam; Fox, Ervin R; Hayward, Caroline; van Duijn, Cornelia M; Tai, E Shyong; Wong, Tien Yin; Loos, Ruth J F; Reiner, Alex P; Rotimi, Charles N; Bierut, Laura J; Zhu, Xiaofeng; Cupples, L Adrienne; Province, Michael A; Rotter, Jerome I; Franks, Paul W; Rice, Kenneth; Elliott, Paul; Caulfield, Mark J; Gauderman, W James; Munroe, Patricia B; Rao, Dabeeru C; Morrison, Alanna C

Human molecular genetics. 2019 Apr 10;

Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval

Kapoor, Ashish; Lee, Dongwon; Zhu, Luke; Soliman, Elsayed Z; Grove, Megan L; Boerwinkle, Eric; Arking, Dan E; Chakravarti, Aravinda

Proceedings of the National Academy of Sciences of the United States of America (PNAS). 2019 May 28; 116:10636-10645

Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease

Tilghman, Joseph M; Ling, Albee Y; Turner, Tychele N; Sosa, Maria X; Krumm, Niklas; Chatterjee, Sumantra; Kapoor, Ashish; Coe, Bradley P; Nguyen, Khanh-Dung H; Gupta, Namrata; Gabriel, Stacey; Eichler, Evan E; Berrios, Courtney; Chakravarti, Aravinda

New England journal of medicine. 2019 Apr 11; 380:1421-1432

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Urreizti, Roser; Mayer, Klaus; Evrony, Gilad D; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A L; Plasencia, Guillem; Gelb, Bruce D; Grinberg, Daniel; Brinkmann, Ulrich; Webb, Bryn D; Balcells, Susanna

European journal of human genetics. 2019 Mar 15;

Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data

He, Karen Y; Li, Xiaoyin; Kelly, Tanika N; Liang, Jingjing; Cade, Brian E; Assimes, Themistocles L; Becker, Lewis C; Beitelshees, Amber L; Bress, Adam P; Chang, Yen-Pei Christy; Chen, Yii-Der Ida; de Vries, Paul S; Fox, Ervin R; Franceschini, Nora; Furniss, Anna; Gao, Yan; Guo, Xiuqing; Haessler, Jeffrey; Hwang, Shih-Jen; Irvin, Marguerite Ryan; Kalyani, Rita R; Liu, Ching-Ti; Liu, Chunyu; Martin, Lisa Warsinger; Montasser, May E; Muntner, Paul M; Mwasongwe, Stanford; Palmas, Walter; Reiner, Alex P; Shimbo, Daichi; Smith, Jennifer A; Snively, Beverly M; Yanek, Lisa R; Boerwinkle, Eric; Correa, Adolfo; Cupples, L Adrienne; He, Jiang; Kardia, Sharon L R; Kooperberg, Charles; Mathias, Rasika A; Mitchell, Braxton D; Psaty, Bruce M; Vasan, Ramachandran S; Rao, D C; Rich, Stephen S; Rotter, Jerome I; Wilson, James G; Chakravarti, Aravinda; Morrison, Alanna C; Levy, Daniel; Arnett, Donna K; Redline, Susan; Zhu, Xiaofeng

Human genetics. 2019 Feb ; 138:199-210

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Evrony, Gilad D; Cordero, Dwight R; Shen, Jun; Partlow, Jennifer N; Yu, Timothy W; Rodin, Rachel E; Hill, R Sean; Coulter, Michael E; Lam, Anh-Thu N; Jayaraman, Divya; Gerrelli, Dianne; Diaz, Diana G; Santos, Chloe; Morrison, Victoria; Galli, Antonella; Tschulena, Ulrich; Wiemann, Stefan; Martel, M Jocelyne; Spooner, Betty; Ryu, Steven C; Elhosary, Princess C; Richardson, Jillian M; Tierney, Danielle; Robinson, Christopher A; Chibbar, Rajni; Diudea, Dana; Folkerth, Rebecca; Wiebe, Sheldon; Barkovich, A James; Mochida, Ganeshwaran H; Irvine, James; Lemire, Edmond G; Blakley, Patricia; Walsh, Christopher A

Genome research. 2017 08 ; 27:1323-1335