News | Overview
Here, you can read about the exciting recent news from The Manton Center, including from Senior Scientists, Associates, and Innovation Fund Awardees!
The latest GDC publication: We found the second variant in two undiagnosed patients presumed to have recessive conditions
By reanalyzing clinical exome data, we were able to help diagnose two patients who were thought to have a recessive genetic condition. Their initial genetic testing did not find both genetic variants needed to provide the families with a complete diagnosis. At this point, the families were enrolled and their genetic data was obtained by our study. By re-processing and reviewing the exome data, we were able to find both variants and provide the families with the full diagnosis. Read more about these two cases in our latest publication in the European Journal of Human Genetics.
2023 Department of Pediatrics Grand Rounds: Manton Center Lecture
For this year’s Manton Center Lecture at the Department of Pediatrics Grand Rounds, we hosted Melissa Wassstein, MD, who is Chief of the Division of Pediatric Genetic Medicine at The Children's Hospital at Montefiore and a Professor of Pediatrics and Genetics at The University Hospital for Albert Einstein College of Medicine
Dr. Wasserstein delivered a fantastic talk on the evolution and intricacies of newborn screening, including her project ScreenPlus, which aims to screen 175,000 babies at nine hospitals in New York using a novel, multi-tiered screening platform to improve accuracy. ScreenPlus will follow screen positive children over time, referring for treatment or clinical trial, when indicated, as well as study important ethical issues by inviting ScreenPlus parent(s) to participate in a series of surveys and interviews.
New gene discovery by the GDC!
The Manton Center GDC led a publication that describes the rare neurodevelopmental condition caused by the gene EIF4A2. Learn more about this study, condition, and gene in the paper: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
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
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.