News | Overview
Dr. Walsh recieves the Kavli Prize
We are thrilled to share the news that Manton Associate and Genetics and Genomics Division Chief, Dr. Christopher Walsh, has received the Kavli Prize in Neuroscience! Congratulations, Dr. Walsh!
Our latest publication! Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
In collaboration with Fabric Genomics and Rady Children's Institute for Genomic Medicine, The Manton Center is helping to improve the rare disease diagnostic process with the help of artificial intelligence. Following whole-genome or whole-exome sequencing, this technology helped generate a very short list of candidate genes/disorders as possible diagnoses, potentially decreasing cost and expediting case review. Read more about this study and findings here.
Using natural language processing to improve the efficiency of diagnosis in rare disease
By leveraging our combined expertise in genomics and data sciences, our ongoing collaboration with Alexion Pharmaceuticals, Inc. aims to improve technologies to lead to more rapid diagnoses. You can read about our latest advancements in the publication just released - A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
New gene discovery by the GDC!
The Manton Center GDC led a publication that characterizes a new rare disease caused by the gene CLCN3. Learn more about the gene and neurodevelopmental condition in the recently released paper - Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Here, you can read about the exciting recent news from The Manton Center, including from Senior Scientists, Associates, and Innovation Fund Awardees!
The Manton Center Lecture at BCH Department of Pediatrics Grand Rounds
The Manton Center had the pleasure to host Stephen Kingsmore, MD, President/CEO of Rady Children's Institute for Genomic Medicine on June 2nd, for the annual Manton Center Lecture at BCH Department of Pediatrics Grand Rounds on June 2nd, 2021.
For those enrolled that would benefit from genomic sequencing, we continue to partner with the Center for Mendelian Genomics at the Broad Institute. Together, we have discovered diagnoses, expanded phenotypes, made novel gene discoveries, published several papers, and established countless collaborations. These activities are often facilitated by Matchmaker Exchange.
Additionally, as genomic testing becomes the standard of care in the clinic, we are now reanalyzing clinical exome data for patients whose original analyses revealed no genetic diagnosis. This reanalysis has also contributed to new diagnoses, publications, and collaborations. See below for our recently published article that highlights this process.
Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12.
New BCH initiatives have also facilitated The Manton Center’s ability to provide genetic testing to families and to increase the amount of de-identified genetic data available for further analyses at BCH. This initiative—The Children’s Rare Disease Cohorts— will benefit Manton families and the broader BCH community. Some of the efforts surrounding this project appear in the following publication authored by investigators at BCH:
Shira Rockowitz, Nicholas LeCompte, Mary Carmack, Andrew Quitadamo, Lily Wang, Meredith Park, Devon Knight, Emma Sexton, Lacey Smith, Beth Sheidley, Michael Field, Ingrid A Holm, Catherine A Brownstein, Pankaj B Agrawal, Susan Kornetsky, Annapurna Poduri, Scott B Snapper, Alan H Beggs, Timothy W Yu, David A Williams, Piotr Sliz. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 6;5:29.
Rare Disease Day
We partnered with National Organization of Rare Disorders’ (NORD) Rare Action Network MA to host a table in the BCH lobby to celebrate rare disease day and raise awareness for rare disease as well as for two local organizations that are helping patients suffering from a rare disease.