{"id":16,"date":"2021-03-12T23:26:01","date_gmt":"2021-03-12T23:26:01","guid":{"rendered":"https:\/\/labs.icahn.mssm.edu\/turrolab\/?page_id=16"},"modified":"2026-04-01T20:32:36","modified_gmt":"2026-04-01T20:32:36","slug":"research","status":"publish","type":"page","link":"https:\/\/labs.icahn.mssm.edu\/turrolab\/","title":{"rendered":"Welcome"},"content":{"rendered":"

\"Turro
\nWe run a research program on statistical genomics, with a dual focus on rare diseases and blood-related traits. The research themes of our group include:<\/p>\n

    \n
  1. Etiological discovery of rare diseases.<\/span> We develop statistical and computational methods for identifying the genetic determinants of rare diseases in large cohorts of whole-genome and whole-exome sequenced patients. We apply our approaches and validate our findings in collaboration with colleagues including Andrew Mumford<\/a> and Kathleen Freson<\/a>.<\/li>\n
  2. Natural histories and mechanistic studies.<\/span> We established the INDEED Study<\/a> to investigate the natural histories and molecular mechanisms of rare diseases. Our team discovered<\/a> ReNU Syndrome<\/a> and both dominant<\/a> and recessive<\/a> forms of ReNU2 Syndrome<\/a>, three of the most common types of neurodevelopmental disorders, so we have a strong focus on these conditions.<\/li>\n
  3. Genome sequencing of neonatal fatalities.<\/span> In collaboration with Felix Richter<\/a>, we established a nationwide network of neonatalogists, NICUnet<\/a>, to study the genetic determinants of rare events in neonatal intensive care units.<\/li>\n
  4. Modeling of intermediate molecular phenotypes.<\/span> In collaboration with the NIHR BioResource<\/a>, we develop and apply methods for statistical integration of genetic and various types of omics data (e.g., RNA-seq) from disease-relevant tissues in large cohorts of participants with rare diseases.<\/li>\n
  5. Discovery and diagnosis of primary immunodeficiency.<\/span> As members of the INTREPID<\/a> research project, we integrate whole-genome sequencing, clinical information and an array of cellular and molecular data from patients with primary immunodeficiency to discover novel etiologies and return diagnoses to patients.<\/li>\n
  6. Understanding the genetic basis of variation in platelet reactivity.<\/span> We are developing new ways of quantifying the propensity of platelets to activate and form clots in large, genetically characterized cohorts, such as Mount Sinai’s biobanks<\/a>. This work is in collaboration with colleagues including William Astle<\/a>, Chris Jones<\/a> and Robert Campbell<\/a>.<\/li>\n
  7. The genetic and mechanistic basis of platelet disorders.<\/span> We have a longstanding interest in discovering and understanding the genetic determinants of inherited platelet disorders, in collaboration with colleagues including Kathleen Freson<\/a>.<\/li>\n
  8. Genetic architecture of tissue factor expression.<\/span> In collaboration with Sol Schulman<\/a>, we are investigating the genetic basis of variation in the expression of the coagulation factor tissue factor, again taking advantage of Mount Sinai’s biobanks.<\/li>\n<\/ol>\n

    We are grateful to Wellcome<\/a>, the NIH NHLBI<\/a>, the NIH NICHD<\/a> and the Lowy Foundation USA for providing extramural funding supporting our work. We are also grateful to the Mindich Child Health and Development Institute<\/a> and the Charles Bronfman Institute for Personalized Medicine<\/a> for intramural support.<\/p>\n","protected":false},"excerpt":{"rendered":"

    We run a research program on statistical genomics, with a dual focus on rare diseases and blood-related traits. The research themes of our group include: Etiological discovery of rare diseases. We develop statistical and computational methods for identifying the genetic determinants of rare diseases in large cohorts of whole-genome and whole-exome sequenced patients. We apply […]<\/p>\n","protected":false},"author":459,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-16","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/labs.icahn.mssm.edu\/turrolab\/wp-json\/wp\/v2\/pages\/16","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labs.icahn.mssm.edu\/turrolab\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labs.icahn.mssm.edu\/turrolab\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labs.icahn.mssm.edu\/turrolab\/wp-json\/wp\/v2\/users\/459"}],"replies":[{"embeddable":true,"href":"https:\/\/labs.icahn.mssm.edu\/turrolab\/wp-json\/wp\/v2\/comments?post=16"}],"version-history":[{"count":30,"href":"https:\/\/labs.icahn.mssm.edu\/turrolab\/wp-json\/wp\/v2\/pages\/16\/revisions"}],"predecessor-version":[{"id":386,"href":"https:\/\/labs.icahn.mssm.edu\/turrolab\/wp-json\/wp\/v2\/pages\/16\/revisions\/386"}],"wp:attachment":[{"href":"https:\/\/labs.icahn.mssm.edu\/turrolab\/wp-json\/wp\/v2\/media?parent=16"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}