Overview

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Core Director:
Alan Beggs, PhD
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Gene Analysis Group Assistant Director
Catherine Brownstein, MPH, PhD
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How we can help with your research

The Core laboratory is dedicated to the following specific aims:

Aim 1:
Provision of general design, implantation, and interpretation of IDDRC studies. IDDRC investigators utilize the expertise of the Core Director, Manager or specific technical staff in the design, implementation and interpretation of their IDDRC studies. Most IDDRC investigators will have some idea on approaches available in the genomic space but the staff of the facility can and will provide a much broader base of knowledge to move the research efforts forward.

Aim 2:
Obtaining the best available price, quality, and turnaround time for Next Generation Sequencing (NGS) for the study of IDD/Neurodevelopment. The Molecular Genetics Core provides IDDRC investigators state-of-the-art sequencing of both DNA and RNA, including inhouse Sanger sequencing and cost effective send-out of Next Generation Sequencing, recognizing the inability of a small core laboratory to be more cost effective than larger genome centers or commercial vendors. IDDRC investigators will benefit from personal service offered by the core and these sequencing services will strengthen their research.

Aim 3:
Producing high quality Array and other Services on demand. While RNASeq is becoming the preferred method of transcriptome profiling, array services are still quite popular. In addition to NGS expertise, the Molecular Genetics Core provides array based expression studies on both Illumina and Affymetrix platforms. The staff gives advice on the platform to use as well as whether arrays will fill their needs over the RNASeq approaches offered in Aim 1. There is also a need to have centralized access to state of the art PCR. The Molecular Genetics Core provides SNP based Fluidigm and ddPCR approaches for IDDRC investigators.

Aim 4:
Training and intellectual development for our researchers and clinicians. The core nurtures the collaboration and training of IDDRC investigators and their staff on the latest techniques and approaches to intellectual and developmental disabilities to move forward the understanding of their underlying basis.

Aim 5:
Assisting in collaborations within and outside Boston Children’s and the IDDRC.

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