The Laboratory for Molecular Medicine (LMM) continues to support the research community.
The following are recent initiatives.
The LMM is supporting the interpretation of clinical whole genome sequences for The MedSeq Project, one of six clinical research grants awarded by the NHGRI’s Clinical Sequencing Exploratory Research program. MedSeq is led by Robert Green and a collaborative group of investigators from Brigham and Women’s Hospital, Baylor College of Medicine, Children’s Hospital Boston, Duke University, Harvard Medical School, and the LMM at the Partners HealthCare Center for Personalized Genetic Medicine. MedSeq is designed to explore the challenges of utilizing genomic sequence data in the routine practice of medicine through an exploratory clinical trial model to randomizing physician-patient dyads to receive genomic sequencing or current standard of care.
Learn more about the MedSeq™.
The Clinical Genome Project
The Clinical Genome Project (ClinGen) is a consortium of three NHGRI-funded projects and the ClinVar project at NCBI, dedicated to harnessing both research data and the data from the hundreds of thousands of clinical genetics tests performed each year, and supporting expert curation to determine which variants are most relevant to patient care. LMM Director Heidi Rehm, PhD, is a principal investigator of the U41 grant of the consortium.
Learn more about ClinGen.
Genome Sequence-Based Screening for Childhood Risk and Newborn Illness
The LMM will support the interpretation of genomes for a new study to implement and evaluate the clinical use of rapid genome sequencing as an adjunct to newborn screening. This project is co-led by Robert Green from Brigham and Women’s Hospital and Alan Beggs from Boston Children’s Hospital.
Hearing and Vision in Infants with Usher Syndrome Mutations
The LMM is participating in a study to examine the early auditory, visual, and vestibular function of deaf and hearing-impaired infants and young children who receive a genetic diagnosis of Usher syndrome before vision loss. This project is led by Margaret Kenna, MD, and Anne Fulton, MD, from Boston Children’s Hospital, and Heidi Rehm from LMM.
Refining IT Support for Genetics in Medicine
The LMM and GeneInsight teams have been involved in a project led by David Bates from Brigham and Women’s Hospital to evaluate the usability and effectiveness of the GeneInsight Clinic software for supporting the use of genetic information in patient care.
New Methods and Enhanced Software for Predicting Functional SNPs
The LMM is collaborating with Shamil Sunyeav’s laboratory to improve the accuracy of PolyPhen by introducing new computational strategies for prediction of the effect of nsSNPs on protein structure and function, as well as to extend the prediction method to non-coding SNPs. The goal is to incorporate these developments into a new version of the PolyPhen software system.