The Manton Center | News

Here, you can read about the exciting recent news from The Manton Center, including from Senior Scientists, Associates, and Innovation Fund Awardees!

 

A new collaboration driving discovery at The Manton Center

The Manton Center is teaming up with Inspire, a social network for health; Pfizer; and Citizen Genetics, a genetics research company, to learn more about how genetics contributes to health conditions and how improving our understanding of this underlying mechanism can lead to improved treatments. Read more here about this exciting collaboration known as Patient Forward Access to Clinical and Technological Research (PFACTR).

 

Tim and Mila smile for the camera with mom

Personalized Medicine in Practice

Dr. Yu and Mila (both pictured) advance the field of personalized medicine.

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Gene Discovery Core (GDC) Patient Enrollment and Research

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

  • Enrollment spans ALL 50 states and 53 countries!
 

 

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.

 

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                                                                This page was last updated December 10, 2020.