Columbia University Medical Center (CUMC)

Please Note, this study is open to all, Surgeon’s, Doctors, and Parents, and Adults with Condition, we need your help to make this work.

EA Columbia USA

What is the CARE Study?

Columbia University Medical Center (CUMC) is currently conducting phase one of the Congenital Anomalies Research Exploration (CARE) Study. This study is using genetic testing to investigate the underlying causes of gastrointestinal (GI) defects. Despite GI anomalies being the third most common type of birth defect seen in babies, there is not much currently known about the genes related to these defects. During phase one, the CARE study is focusing its investigation on genetic causes of esophageal atresia (EA) and tracheoesophageal fistula (TEF) and is looking for participants who were born with EA and their biological parents to participate. In future phases, CUMC will investigate other GI defects, including omphaloceles, gastroschisis, and anorectal malformations.

Overall, the CARE Study has two goals.

1. Identify genetic causes of EA/TEF.

It is suspected that there is an underlying genetic contribution to these types of congenital anomalies, but the specific genes and their effects are unknown. Through having a better understanding of the underlying genetic causes, we may be able to study the relationship between the genetic changes in patients with EA/TEF and the effectiveness of different treatment/management modalities. We will also be able to better understand the hereditary nature of the defect and risk of recurrence in a family.

2. Collect long-term developmental data on individuals born with EA/TEF.

This type of data will help us study what effects the gene changes causing EA/TEF will have on long-term development and will be useful for families in the future to help understand what to expect when their child is diagnosed with EA/TEF.

Who are we?

The CARE team is a multidisciplinary team based at Columbia University Medical Center. The principal investigator is Dr. Wendy Chung, a clinical geneticist who has extensive experience in studying the genetic causes of various birth defects. The co-investigators are the director of pediatric surgery, Dr. William Middlesworth and pediatric gastroenterologists, Dr. Julie Khlevner and Dr. Joseph Picoraro. The study coordinator and main contact person are Priyanka Ahimaz, a board-certified genetic counselor. The study also has rotating research assistants, currently Sarah Stewart, a genetic counseling student from Sarah Lawrence College.

To learn more about the study team members, click the link below:

https://columbiacarestudy.wordpress.com/2017/02/01/meet-the-care-study-team/

Interested in Participating?

The CARE study is an optional, free study, which accepts participants born with EA/TEF from all over the world. At this time, we are enrolling individuals who have esophageal atresia and tracheoesophageal fistula (EA/TEF). If you/ your child is affected with EA/TEF and are interested in participating in the study, we will arrange an appointment over the phone to discuss the study. We are able to enroll participants of all ages. As a part of the study, we will ask some general medical history questions to learn more about the affected individual and their family

history. A blood (ideal sample) or saliva sample will need to be collected from the affected individual and both biological parents- the collection kits can be shipped to your home at no cost and we will provide pre-paid packages for you to have them sent back to us, also at no cost. Having both the medical history and parent’s samples will allow us to create a more complete picture when analyzing genetic test results. We can observe if there are any changes in the genetic sequence of the affected individual compared to their parents that may be responsible for the birth defect.

The genetic test we will conduct is called Whole Exome Sequencing (WES). Basically, WES is a genetic test that looks at the DNA in your blood or saliva to analyze the sequence or code of your DNA. By doing this, we can see if there are any changes that could have contributed to the EA/TEF. In the CARE study, we will only be looking at the areas in your DNA that are known to be related to EA/TEF. This means that analysis and results will only be focused on these specific areas, so you will not get any secondary results that could potentially suggest you are at an increased risk for a different medical condition.

This study does not necessarily directly impact its participants. However, if any genetic changes are identified in the genes being examined, the family can be notified of the result if desired. Furthermore, this study will help future families with children born with a GI defect, in order to provide them with better information and management upon diagnosis.

Contact US

For more information on the CARE study and our team, please visit our website at https://columbiacarestudy.wordpress.com/

or Facebook page at https://www.facebook.com/CAREstudycolumbia/

We can be contacted through either page if you have any questions or if you are interested in participating would like to set up an appointment via phone. Click the image below to see the study:

Click on the Care Study Photo below to find out more from their own page

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2nd International Conference on Digestive Diseases

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2nd International Conference on Digestive Diseases

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December 07-08, 2017 Madrid, Spain
2nd International conference on Digestive Diseases” during December 07-08, 2017 at Madrid, Spain. Conference highlights the theme “Recent advancements and therapeutic techniques in Digestive Diseases”.

Conference Series Ltd organizes 1000+ International Conferences every year across USA, Europe & Asia with support from 1000 more scientific Societies and publishes 400+ Open Access Journals which contains over 30000 eminent personalities, reputed scientists as editorial board members

For Abstract submission and more details about conference please visit our conference website: http://digestivediseases.conferenceseries.com/
or
Contact
Adam Johnson
Director| Digestive Diseases 2017 | Madrid| Spain
Email: digestivediseases@gastroconferences.com
Tel: 1-800-216-6499| 1-888-843-8169
Fax: +1-650-618-1417

Digestive_Diseases_2017

Dear Steve,

 Thank you for your support!

Adam Johnson

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On a Personal Note

I never got to say Thank You to the two Surgeons that saved my life back in 1962, doing this website is my Thank You to them with the help of my Grandmother, as you can see below.

This website is Dedicated to the Memory of my late Nan, who without her comment, and money left in her will, to me, then none of what we are doing would have happened. and this is why we take nothing from this idea everything goes to bringing about change.

Nan’s message read  …… You could change the world if you put your mind to it, Stephen.

me

My Facebook page:- https://www.facebook.com/profile.php?id=100004980497666

So who are we, I hear you ask?

Steve Wyles Adult-born unable to swallow in England in 1962, I put this site together to help New Parents understand what might lay ahead.

Sue Paul, Wife of an Adult with Ea-Tef, USA who became my Friend before his death from lack of data on his.

I am so proud to have been able to set up with Sue Paul something that later turned into TWO USA Medical Papers with our names on, the is link below

http://www.birth-defect.org/ea-tef-tof-oa-letters-of-support/#our-posters-as-presented-at-the-ddw-2017

~

This Site is Run by Parent’s for Parents we are not Doctor’s What is found on the enclosed pages is from our internet research, bringing you a mass of info and placing it on here. We do get sent info from different sources, and can not confirm every single thing you read, but at the end of the day, you only have to ask your Doctor to put your mind at rest. PLEASE NOTE

*The resources on this site should not be used as a substitute for professional medical care or advice.*

THIS IS A DISCLAIMER FOR THIS SITE
This website is run for Parents by Parents of Conditions found within this site, and not linked to Charities, or receiving funds, or making a profit, funded by ourselves.
We are not here to cause any upset to other's, only to RAISE AWARENESS for OUR Children's, Rare Condition's. With the Help of World Doctors.
Although we do our best not to use copyrighted wording this site is only bringing all that is floating around on the world internet into one place to be able to HELP Parents and people trusted in looking after our Children.

Building a Site where Parents can understand the way Doctors talk using photo's, video, info sent by Doctors. Not used to make money, just to help Support the Parents understand.
Bringing the info together to build this unique site, has been a god send to families one Consultant emailed us.
(Anything found here, is here to help other's)

Liability:
For documents found on this WEBSITE we do not warrant or assume any legal liability or responsibility for the accuracy. Plus the resources on this site should not be used as a substitute for professional medical care or advice, but rather to provide users with information to better understand their health or their Child's diagnosed disorders. Specific medical advice will not be provided.

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