About the Talkowski Laboratory

The Talkowski Lab is focused on understanding the genetic etiology of complex developmental and neuropsychiatric disorders. Collectively, our efforts revolve around a cycle that traverses from discovery of genomic variation across global populations to disease association, mechanistic modeling, and translation to diagnostic interpretation in the emerging era of genomic medicine.

Our group integrates molecular and computational genomics approaches to understand the functional consequences of genomic variation, with a particular interest in the relationship between genome structure and function. Our program has been recognized for its impact in introducing sequence-based genomics into the field of cytogenetics and prenatal diagnostics, performing the first large-scale sequencing studies of chromosomal abnormalities in neurodevelopmental disorders, and characterizing  novel classes of complex chromosomal rearrangements that occur in the human germline.

We are actively leading studies to explore the genetic architecture of autism, including the large-scale whole-genome sequencing studies in autism families. We have also performed a series of functional genomic studies using genome editing techniques and iPSC technologies to investigate loss-of-function mutations associated with autism and rare Mendelian disorders such as congenital arhinia and X-linked dystonia parkinsonism. These studies have also defined long-range positional effects resulting from alteration to three-dimensional regulatory structures encompassing genes critical to neurodevelopment. We are also deeply engaged in determining the implications of emerging genomics technologies in diagnostic screening.

We are always interested in new postdoctoral and graduate student trainees that would like to join our teams across these studies!

The Center for Genomic Medicine is leading an effort to complete the genomic medicine cycle – from genetic discoveries to mechanism to the clinic – by assessing where genomic medicine will have the greatest impact on human health, and by driving efforts to implement genomic medicine in those areas, at MGH and beyond.

The cycle is a paradigm for disease research that begins by comparing human phenotypes and genetic variation to identify genes of importance in human disease, then moves on to characterizing the mechanisms by which the underlying DNA differences lead to disease, and is completed when the knowledge gained delivers benefit back to patients in the forms of improved diagnosis, disease management, and treatments.

Center for Genomic Medicine

In addition to our genomics laboratory at MGH and the Broad Institute, Dr. Talkowski is the founding director of the Genomics and Technology Core of MGH, which seeks to develop new technologies and provide molecular and computational genomics capabilities to the local and external research community.  We also have a large network of collaborations within the MGH, Harvard, Broad Institute, and MIT communities, as well as external collaboration throughout the US and internationally.

We welcome inquiries from highly qualified scientists at all levels from graduate students to senior staff scientists interested in joining our research team and collaborative network to study the genomics of human disease. Please see contact information here.

The Talkowski lab is funded by:

Recent Posts

Dr. Talkowski to become the new CGM Director

August 13th, 2020|Comments Off on Dr. Talkowski to become the new CGM Director

We are delighted to announce that Michael E. Talkowski, PhD, has been selected to become the next Director of the Center for Genomic Medicine (CGM) at MGH beginning on September 1, 2020. Dr. Talkowski will [...]