# Molecular Genetics Core

> **NIH NIH U54** · BOSTON CHILDREN'S HOSPITAL · 2020 · $113,813

## Abstract

MOLECULAR GENETICS CORE (CORE F)
ABSTRACT
The fields of molecular genetic and genomic technology, instrumentation and data handling/analysis have
undergone revolutionary changes in the previous 5 years of the IDDRC grant to Boston Children's Hospital.
Many of these changes, including a dramatic reduction in price, has made exome or genome sequencing
within reach of individual laboratory investigators and clinicians. It is now possible to obtain exome/genome
sequences on families or individuals with intellectual and developmental disabilities and determine the
underlying genetic cause of the problem-- leading to more accurate diagnoses and targets for therapeutic
intervention.
The technology and interpretation of the output data is very complicated, and is often beyond the expertise of
individual laboratories or clinicians. The Boston Children's Hospital's IDDRC Molecular Genetics Core
laboratory has evolved with these revolutionary changes and represents a central location to which IDDRC
investigators can obtain advice on project design and outsourcing to the best and least expensive vendors.
Additionally, IDDRC investigators can receive training and assistance in analyzing the resulting data, such that
they will have a smooth path to new gene discovery. This benefits both their NIH supported research as well
as individual patients and their families.
Some investigator needs have not changed over the past 5 years. There is still the need for confirmatory
sequence verification, as well as advice on functional studies. The demand for our economical array-based
transcriptome studies and PCR analysis continues to grow. Sometimes laboratories or cores can collaborate
on projects, saving time and money for all parties, but need assistance on how to find a suitable partner. The
Molecular Genomics Core facilitates all of the above and more; all of these functions are combined in one
central laboratory available easily to all IDDRC investigators and their lab members. This produces an
economy of scale and a place for training and collaboration. The Molecular Genetics Core Laboratory will
emphasize the following specific aims:
Aim 1: Provision of general design, implantation, and interpretation of IDDRC studies.
Aim 2: Obtaining the best available price, quality, and turnaround time for Next Generation
 Sequencing (NGS) for the study of IDD/Neurodevelopment.
Aim 3: Producing high quality Array and other Services on demand.
Aim 4: Training and intellectual development for our researchers and clinicians.
Aim 5: Assisting in collaborations within and outside the Boston Children's Hospital IDDRC.

## Key facts

- **NIH application ID:** 10003047
- **Project number:** 5U54HD090255-05
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** LOUIS M KUNKEL
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $113,813
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10003047

## Citation

> US National Institutes of Health, RePORTER application 10003047, Molecular Genetics Core (5U54HD090255-05). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10003047. Licensed CC0.

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