Luca Lambertini, PhD

Dr. Lambertini works in the Environmental Health Lab of the Preventive Medicine Department. His research is oriented toward the identification and characterization of biomarkers of improper fetal development leading to the manifestation of chronic and developmental disorders in children.

Dr. Lambertini’s centers around the following main areas:

1. Genomic Imprinting. This epigenetically driven phenomenon is governed by an intricate network of epigenetic signals that contribute to the allele-specific expression of a limited number of genes according to the parent-of-origin. Perturbation of the imprinting and/or expression profiles of these genes have been linked to pregnancy outcomes, like mainly growth restriction, and disorders like obesity and neurodevelopmental syndromes in children. Dr. Lambertini studies genomic imprinting in human placenta by using a highly sensitive technique that measures loss of imprinting (LOI) at the RNA level by determining the relative amount of RNA transcribed by each allele for a subset of imprinted genes. By using an allele-specific PCR approach this technique allows measuring the effects of all epigenetic effector acting on regulating the imprinting profile. Dr. Lambertini worked on establishing the correlation between LOI perturbation and growth restriction as well as imprinted gene expression dysregulation and neurodevelopmental status at birth.

2. long non-coding RNAs (lncRNAs). Non-coding RNA, transcribed in high amount accordingly with the complexity of the organism, represent double the number of RNAs transcribed by the known genes of the human genome. Their role is poorly understood and, beside micro RNAs almost nothing is know about other non-coding RNAs like lncRNAs. These transcripts are longer than 500 bp and have been hypothesized to work as regulator of the DNA eu/ethero-chromatic status. Between them several lncRNAs have been found to critically affect different aspects of differentiation and to drive some key developmental phases of the embryo. Dr. Lambertini developed a project intended to identify all lncRNAs expressedin placenta, monitor their expression in fetal growth and development.

3. Mitochondrial DNA (mtDNA) methylation. Recently the role of methylation on the regulation of the mtDNA functioning became evident. These cellular organelles are fundamental for adapting the metabolic rates of our tissues and organs to different needs. Mitochondria also play a critical role in fetoplacental; development by sustaining the peculiar metabolic rate of this temporary organ and they also participate on supporting the brain growth. Dr. Lambertini is conducting a project intended to deep sequence the placental mitochondrial DNA from normal and growth restricted placentas in order to pinpoint differentially methylated regions that could be the signature of an altered fetal development.

4. Windows of Susceptibility. Chronic and developmental disorders in children include pathologies that span from asthma and obesity, to neurodevelopmental syndromes and to cancer. The recognition is increasing that supports the understanding that such disorders have their bases in an improper fetal development.  During the embryo development there indeed exist windows of susceptibility that can alter the correct growth and lead to the manifestation of such a plethora of disorders. In collaboration with Drs. Jia Chen and Susan Teitelbaum, Dr. Lambertini is investigating perturbations of the epigenetic setup in experimental animals exposed to chemicals with endocrine disrupting potential commonly found in the environment of human life. Correlation will be sought between these epigenetic dysregulations and mammary cancer as well as other indicator of alteration of the developmental trajectory of the fetus.

5. The Policystic Ovary Syndrome (PCOS) Model. PCOS is an ideal model to study the dysregulations of the epigenetic profile leading to chronic disorders in children. Women affected by PCOS deliver infants with a high risk to develop metabolic syndrome and become obese. Working in collaboration with Drs. Yaron Tomer, Nathan Kase and Joanne Stone, Dr. Lambertini is working by participating in the profiling of the epigenetic status of a limited number of PCOS women before and during pregnancy and then analyze the progeny for the same parameters. Babies born from these pregnancies will be further followed up to assess their health status to correlate with the experimental findings.

6. Mount Sinai Pregnancy Biobank (MSPB). Research projects from different MSSM Departments including Preventive Medicine and OB/GYN, would greatly benefit from the availability of placental tissue and umbilical cord blood to elaborate marker of improper fetal development. In this framework, Dr. Lambertini collaborated to the development and now leads the project for the implementation of the MSPB that is by to be activated and will collect such samples linked to the patient’s clinical information stored at MSSM. Samples will be available to the whole MSSM scientific community and follow-up on children will also be available on the basis of the protocol for each project that will use MSPB samples.

7. Other projects. Dr. Lambertini is also involved in the National Children’s Study (NCS), is developing a patent for a new placenta sampling tool and collaborate with Dr. Stone to elaborate experimental research projects for the Maternal-Fetal Medicine fellows of the OB/GYN Department.