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Research

ThinkstockPhotos-179217557_316x210 The Division of Genetics is the administrative home for Montefiore's Center for Congenital Disorders, Center for Craniofacial Disorders and Center for Inherited Metabolic Disorders. Over the years, our faculty have been immersed in a wide range of research areas. Some of this research has been performed wholely by members of the Division, while most of the work has occurred due to close collaborations with basic and clinical scientists at Montefiore, Einstein and other institutions.  Summaries of some of our work are included below:

Genome of the Human Papillomavirus

For the past 25 years, Robert D. Burk, MD, has conducted groundbreaking studies on the genome of the human papillomavirus (HPV), which causes nearly all cases of cervical cancer. The main focus of the Burk laboratory is to understand how evolution of HPV has resulted in the emergence of HPV types that are highly pathogenic and cause multiple cancers in humans (e.g., cervix, head  and neck, skin). His breakthroughs have been responsible for the development of the HPV vaccine that is currently available.

Population-Based Studies on Persistent HPV in Women at Risk for Cervical Cancer

This is another area of interest to Dr. Burk and his staff.  The purposes of this study are to further examine the natural history of HPV in a truly unique population with a wide age range, in order to identify viral genetic, epigenetic and host cervical microbiome variability as risk factors for persistent and progressive HPV infection.

The Natural History of Genetic Syndromes: CardioGenetics Clinic

The Montefiore Einstein CardioGenetics Clinic is a unique, multidisciplinary clinic that brings together adult and pediatric cardiology, clinical genetics and genetic counselors, and social workers, psychologists and ethicists to provide care to families that have lost a loved one due to an inherited cardiac condition. This activity is at the cutting edge of what has come to be known as "precision medicine,” previously referred to as “personalized genomic medicine.” Our team is using our knowledge of the specific phenotype caused by specific genetic mutations to identify individuals who are at risk, and then implement targeted treatments that are known to work in preventing death in those mutations. 

The research work of the clinic has focused on characterizing and phenotyping specific genetic mutations that are found in individuals who have such conditions as the Long QT syndromes, hypertrophic cardiomyopathy and dilated cardiomyopathy.  It is our hope that a better understanding of the molecular basis of these conditions will provide an opportunity to provide better care to our patients.

We see this as the cutting edge of future precision care, and therefore we have been carefully studying the reaction of family members to the work of the clinic. 

The Natural History of Genetic Syndromes: 22q11.2 Deletion Syndrome Center

In 2015, the Division established a multidisciplinary clinic to provide total care for individuals with 22q11.2 deletion syndrome.  As part of this activity, the Division has more closely partnered with Bernice Morrow, PhD Professor of Genetics, Einstein, who is an internationally known expert in this condition. 

Dr. Morrow’s lab focuses on human microdeletion syndromes in which affected individuals have one copy of a set of genes instead of two.  What has been particularly important is to understand why deletions occur during meiosis, identify genes responsible for the disorders, and discover genetic risk factors outside deleted intervals that can explain variable phenotypes associated with such syndromes.

Dr. Morrow’s lab has collected more than 2,000 DNA samples from individuals with 22q11DS and some of their unaffected parents.  She has performed microarray and whole exome sequencing to identify genetic modifiers of the phenotype.  A systems biology computational approach is being undertaken to integrate genotypes, known biological function of genes, exome sequence and copy number variation data to identify key genetic pathways downstream of the 22q11DS.