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Overview

A powerpoint slide describing information for the Manton Center Lector.

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.

A powerpoint slide describing Dr. Kingsmore lecture for the Manton Center.

Gene Discovery Core (GDC) Patient Enrollment and Research

  • We hit the 2000 mark in 2020! We now have over 2000 families enrolled into theGDC

  • Enrollment spans ALL 50 states and 53 countries!

Light blue and grey flat map of the world with the ocean areas appearing in white.

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.儿童罕见病群体:一个综合再保险公司search and clinical genomics initiative.NPJ Genom Med. 2020 Jul 6;5:29.

Rare Disease Day

We partnered withNational 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.

A group of woman gather behind a table for a group photo.

This page was last updated December 10, 2020.
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