Genetics Study of Anal Atresia at Mayo Clinic

Imperforate Anus Genetics Study

Dr. Lisa Schimmenti at Mayo Clinic believes there is an underlying genetic and environmental cause for infants who are present with anal atresia, also known as imperforate anus. We are developing a database that will include MRN, imperforate anus phenotype, information on other congenital malformations, syndromic diagnosis if available, and demographic information.  Our hope is our study will provide a better understanding of the genetics of patients with IA to improve diagnosis and patient care.

Study Participants will be asked to:

  • provide access to medical records
  • provide demographic information
  • submit a one-time blood sample from the individual affected with IA and his/her parents (if available)

If you are interested, a kit containing all the materials necessary to participate will be sent to you. There will be no cost to you.

For more information, please contact our team via email at rstcgresearch@mayo.edu

You can also visit our study page for more information at:  https://www.mayo.edu/research/clinical-trials/cls-20530075

Genetic Study of Hirschsprung Disease, NYU School of Medicine

Hirschsprung Disease Genetics Study

Dr. Aravinda Chakravarti’s laboratory at New York University has been investigating the genetics of Hirschsprung disease (HSCR) for more than fifteen years. The purpose of our study is to continue the search for genes involved in Hirschsprung disease and to further characterize the known genes and the interactions between them.  Our study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling.

We ask study volunteers to:

  • complete a medical/family history questionnaire
  • provide access to some medical records
  • submit blood (or cheek swab/saliva) samples from the individual(s) affected with Hirschsprung disease and his/her parents (if available)

If you are interested, a kit containing all the materials necessary to participate can be sent to you.  There will be no cost to you.

For more information please contact the study coordinator, Monica Erazo, at 212-263-8069 or hirschsprung@nyulangone.org.

You can also visit our study website at: https://aravindachakravartilab.org/hirschsprung-study/#getinvolved

Neural Tube Defect Research

Center for Human Genetics
Duke University Health System

There are two types of NTDs. The most common type are called the open NTDs. Open NTDs occur when the brain and/or spinal cord are exposed at birth through a defect in the skull or vertebrae (back bones). Examples of open NTDs are spina bifida (myelomeningocele), anencephaly, and encephalocele. Rarer types of NTDs are called closed NTDs. Closed NTDs occur when the spinal defect is covered by skin. Common examples of closed NTDs are lipomyelomeningocele, lipomeningocele, and tethered cord.

Neural Tube Defects Research Review

NTDs are one of the most common birth defects, though their causes are not well understood. The formation of the neural tube during development is a complex process, and the goal of our project is to discover the genetic and environmental factors that contribute to NTDs. One major step in research is to gather data on a large number of families. Currently, the Center for Human Genetics (CHG) has enrolled more than 1200 families. We will need to enroll another 500-1000 families before some of the laboratory studies can be completed. We continue to collaborate with Myelodysplasia clinics around the country, presenting information at local and national Spina Bifida Association of America conferences, and speaking with families interested in the study.

In the laboratory, our goal is to find genes that cause or contribute to NTDs. There are two major strategies scientists are using:

  • genome scan – systematically searching each chromosome, looking for areas which may harbor genes that cause or contribute to NTDs
  • candidate gene analysis – studying genes of known function that could potentially be involved in neural tube development. Examples of candidate genes include the many genes involved in the folic acid metabolism pathway, genes known to cause NTDs in animals, and genes involved in chromosomal rearrangements in individuals who also have NTDs.

Neural Tube Defect Study Team

A project of this magnitude requires the efforts of many. These experienced CHG researchers-with the help of interested families-continue to search for genes that cause NTDs.

If your family is interested in learning more about this NTD research or in participating, please contact us toll free at (866) DUKE-NTD (866) 385-3683 or e-mail ntd@chg.duhs.duke.edu.

Research – IVF and the Development of Cloacal-Bladder Exstrophy-Epispadias Complex

Invitation to participate in a research study regarding IVF and Bladder Exstrophy
Johns Hopkins Medical Institution

Brady Urological Institute

We are researchers in the division of pediatric urology at the Brady Urological Institute of the Johns Hopkins Medical Institution. This center specializes in the care of children born with cloacal exstrohpy, bladder exstrophy, and epispadias. We also conduct laboratory and clinical research investigating the causative factors and medical needs of children with this complex of congenital defects. As part of our ongoing efforts to better understand cloacal and bladder exstrophy and epispadias, we are evaluating a potential association between the use of in vitro fertilization (IVF) technologies and the development of the cloacal-bladder exstrophy-epispadias complex.

We would like to invite families of children born with cloacal exstrophy, bladder exstrophy, or epispadias who underwent IVF to participate in our study. Participation will require a telephone-administered interview of approximately 15 minutes in length. Interview questions will pertain to parental and child perinatal health. At the conclusion of the interview, the parent would have the opportunity to provide further detail about his/her child and ask questions of the interviewer. Interviews will be conducted by Dr. Gearhart, chair of the division of pediatric urology at Johns Hopkins, or one of his associates. The results of the study will be published, but the identity of all participants will remain anonymous.

If you would like to participate, please contact the Dr. Gearhart’s office by telephone, e-mail, fax, or postal mail at the information provided below. Your participation will advance our understanding of the potential causative factors of this complex of defects and may lead to prevention of such defects in future generations. Thank you for taking the time to consider participating in this study.

John Gearhart, M.D.
The James Buchanan Brady Urological Institute
The Johns Hopkins Medical Institutions
600 N. Wolfe Street
Baltimore, MD 21287-2101
Telephone: (410) 955-5358
Fax: (410) 955-0833
E-mail: jgearhart@jhmi.edu

Research Study – Epispadias, Bladder Exstrophy and Cloacal Exstrophy

INVITATION FOR PARTICIPATION IN A RESEARCH STUDY
Pediatric Urology, Brady Urological Institute
600 N. Wolfe St, Marburg 149, Baltimore, 21287, USA

We are researchers at the Johns Hopkins Brady Urologic Institute. Our research involves studying the causes of epispadias, bladder exstrophy and cloacal exstrophy. Our ultimate goal is to identify genes and environmental factors causing these conditions. We would like to invite families, who have a child with this condition to participate in our study.

If you agree to participate each family member will need to sign a consent form. We will arrange for a clinical examination and blood sample collection from the child and his or her biological parents. These samples will be prepared so that we will not need another sample in the future. The families will not benefit directly, but we hope by learning about the causes of bladder exstrophy that some day we will be able to provide better care to patients.

The results of our study will be published, but the participants will be coded by identification numbers and will remain anonymous. These families will also be asked to participate in a survey, designed to identify environmental factors that may cause bladder exstrophy. All responses to the questionnaire will be kept confidential. There will be no charge to participants in the study.

If you are interested in participating or if you have any questions regarding this study, please contact Nelly Morales (Study Co-ordinator) by telephone at (410) 502-3626, or e-mail (nmorale2@jhmi.edu) for additional information and to make arrangements.

Thank you for taking the time to consider participating in this study.

Sincerely, Yegappan Lakshmanan, M.D. Assistant Professor of Pediatric Urology (Principal Investigator)
John P. Gearhart, M.D. Professor and Director of Pediatric Urology
Ranjiv Mathews, M.D. Associate Professor of Pediatric Urology
Simeon Boyd, M.D Department of Genetics UC DavisHealthCenter