Gender & Sexuality Service | NYU Langone Health
The Gender and Sexuality Service at the Child Study Center is part of Hassenfeld Children’s Hospital at NYU Langone.
Gender-Affirming Surgery Services | NYU Langone Health
NYU Langone’s surgeons provide gender-affirming surgery for transgender and nonbinary people.
General Compliance | NYU Langone Health
The Office of Internal Audit, Compliance, and Enterprise Risk Management supports NYU Langone Health’s commitment to a culture of compliance.
General Pediatric Services in Manhattan | NYU Langone Health
NYU Langone’s team of pediatric medicine experts offer several convenient care locations across Manhattan.
General Pediatric Services in Manhattan Doctors | NYU Langone Health
Find a doctor at the General Pediatric Services in Manhattan at NYU Langone.
General Surgery | NYU Langone Health
NYU Langone general surgeons perform surgical procedures for a wide range of conditions.
General Surgery Doctors | NYU Langone Health
Find a doctor at the General Surgery at NYU Langone.
Genetic & Chromosomal Disorders | NYU Langone Health
NYU Langone genetic specialists provide prenatal, cancer, and cardiovascular genetic counseling, and clinical evaluation for genetic syndromes.
Genetic Analysis of Hirschsprung Disease
Hirschsprung disease (HSCR) is a birth defect resulting from the absence of nerve (ganglion) cells in the gastrointestinal tract. Hirschsprung disease has a population incidence of 1/5000 live births and most often occurs as an isolated condition. However, approximately 30% of HSCR cases are associated with other birth defects such as Down syndrome, deafness, hypopigmentation, and Ondine’s curse (Congenital Central Hypoventilation syndrome (CCHS)). Hirschsprung disease is a genetic condition with autosomal dominant, autosomal recessive, and multigenic patterns of inheritance described. The goal of our research study is to identify genes harboring causative HSCR mutations and to better understand the complex inheritance of HSCR in families by whole genome mapping and sequencing studies. Specifically, we intend to ascertain the frequency with which mutations in any human gene lead to familial and isolated forms of HSCR. Further, we will collect clinical information and investigate possible genotype – phenotype correlations. The subject population consists of individuals diagnosed with HSCR and their unaffected relatives. Individuals/families are ascertained through support groups, web-based listings of research studies and genetic testing services, an educational Hirschsprung disease website, and referrals from genetic counselors and physicians. Blood, or tissue, samples are requested from affected individuals and their unaffected relatives. The blood/tissue samples received are anonymized; samples are coded with a family and individual number. The identity of the study participants will be known only to Dr. Chakravarti, the study coordinator, and the post-doctoral fellow(s) working directly on the project. DNA, lymphocytes, and lymphoblastoid cell lines may be prepared from the blood samples for future use. Molecular analysis using markers and sequencing, and statistical analysis of these data, will be used to identify regions of human chromosomes where putative HSCR disease genes may be located. In addition, we will analyze the DNA sequence of known and/or suspected HSCR genes or the whole genome in individual patients and their family members, in search of causative HSCR susceptibility variants. Study subjects will not directly benefit from participation; the purpose of the study is to better understand the etiology of HSCR, leading to improved detection, treatment, and management. Results will not be disclosed to participants nor their health care providers, unless medically relevant. Our laboratory is not CLIA approved and thus, analysis is completed for research purposes only. However, in the event that we identify a clinically significant and actionable result that may affect the participant’s future health, such as a RET mutation that confers a risk for multiple endocrine neoplasia, type 2A (MEN2A), the individual may be contacted with options for receiving the potential result after submitting a new blood sample for CLIA confirmation.
Genetic evaluation of patients with undiagnosed diseases
The purpose of this study is to use extensive sequencing of the DNA (genetic material inherited from parents) or RNA (transcripts of the DNA), and functional characterization of patient-derived cells if necessary, to identify the cause of an individual's undiagnosed medical condition. Today, advances in technology allow us to sequence all the portions of the DNA containing instructions for the proteins in the body (whole exome sequencing, abbreviated WES), all of a person's DNA (called whole genome sequencing, abbreviated WGS), or RNA (called RNA-sequencing, abbreviated RNA-seq). WES, WGS, and RNA-seq have been used recently to make diagnoses for individuals suffering from diseases that doctors cannot figure out but seem to be due to errors in the DNA. Generally, the doctors first order many conventional medical tests, including some more limited DNA sequencing tests, before resorting to WES or WGS. For this study, we intend to use WES, WGS and/or RNA-seq as one of the first tests for individuals suffering from problems that suggest that they might be caused by errors in the DNA. The purpose is to provide diagnoses to patients with undiagnosed disease, find out how often we can make a diagnosis in this way, see if we can arrive at that answer more rapidly, and what effect finding a diagnosis has on a patient's medical care and well-being.