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Crigler-Najjar Syndrome

What is Crigler-Najjar Syndrome?

Crigler-Najjar Syndrome is a rare disorder affecting the metabolism of bilirubin.

 

Crigler-Najjar Syndrome is a rare disorder affecting the metabolism of bilirubin.
Acknowledgement of Crigler-Najjar Syndrome has not been added yet.
0.1http://www.orpha.net
Synonyms for Crigler-Najjar Syndrome has not been added yet.
Bilirubin is supposed to be converted to a nontoxic form by an enzyme, uridine-diphosphate glycosyltransferase (UGT). However, in individuals affected with Crigler Najjar, this enzyme does not work properly and is unable to convert bilirubin. Crigler-Najjar syndrome is inherited as autosomal recessive. The affected gene, UGT1A1, has structural mutations that lead to deficient enzyme activity or basically no enzyme activity.
Type 1 Crigler-Najjar syndrome usually presents earlier than Type 2. In Type 1, individuals affected suffer from jaundice at or soon after birth. Kernicterus may appear in the form of hypotonia, deafness, or oculomotor palsies. Kernicterus is what eventually causes death, as early as age 2 if left untreated. In Type 2 Crigler-Najjar syndrome, jaundice may occur between birth and childhood, and may be caused by external factors such as infection.
A diagnosis of Crigler-Najjar syndrome is made when bilirubin levels are elevated.
Diagnostic tests of Crigler-Najjar Syndrome has not been added yet
In Type 1, early intervention is necessary to avoid kernicterus. In emergency circumstances, plasma exchange transfusions are used. Long term treatments include phototherapy to break down bilirubin, oral calcium phosphate to excrete bilirubin, and liver transplantation. For Type 2, treatment is not necessary. Phenobarbital, phototherapy, and plasma exchange transfusions are used during emergency circumstances. Gene therapy and experimental treatments are being developed to combat Crigler-Najjar.
Type 1 Crigler-Najjar is severe and leads to death in childhood if not treated. Even when treated, individuals will develop brain damage. The life expectancy for those with Crigler-Najjar is 30 years. Individuals affected with Type 2 Crigler-Najjar reach normal or near-normal life expectancies but will experience jaundice and less severe organ damage throughout their lives.
Name Description
C It is crucial for individuals with Cushing’s syndrome to not push themselves too hard physically, eat healthily, and monitor their mental health. Cognitive issues resulting from Cushing’s syndrome may improve through mental exercises such as Sudoku. Pain can be alleviated with low-impact exercise, hot baths, and massages.
References of Crigler-Najjar Syndrome has not been added yet.
CNS Podcast 05/25/2016 Created by deepask1
Last updated 31 May 2016, 02:56 PM

Posted by deepask1
31 May 2016, 02:52 PM

Dear RareShare CNS Community Members, We have recently hosted a podcast of our Ask the Expert series and gained some knowledge to help you in your journey. Thank you so much for your continuous participation in our seventh podcast series on: p=. “Living with Crigler-Najjar Syndrome (CNS)-A Clinical & Research Perspective” featuring Dr Piter J Bosma, PhD and Dr Henrik J Vreman, PhD & Dr Jayanta Roy-Chowdhury​, MD As promised here are the recording links, click here to replay the event 1)"CNS Podcast Link (MP3)":http://kiwi6.com/file/jdq1qksd2c, 2) "CNS Podcast Direct Link":http://k003.kiwi6.com/hotlink/jdq1qksd2c/Crigler_Najjar_Syndrome_Ask_The_Experts_Podcast_Series_05_25_2016_.mp3 We look forward to your participation in our future events at RareShare Community & Rare Genomics Institute, Sincerely, Deepa Kushwaha, PhD Scientific Director Rare Genomics Institute www.raregenomics.org www.rareshare.org

Criggler Najjar Syndrom Podcast on 05/25/2016 Created by deepask1
Last updated 23 May 2016, 04:14 PM

Posted by deepask1
23 May 2016, 03:31 PM

p=. Invitation to Upcoming Podcast Discussion RG/RareShare Ask the Experts Crigler Najjar Syndrome Podcast Series Rareshare logo 2.JPG Rare Genomics Institute and RareShare are proud to invite you to the upcoming podcast discussing: Living with Crigler Najjar Syndrome (CNS) – A Clinical & Research Perspective- Featuring Dr PJ Bosma, Dr Hendrik Vreman & Dr Jayanta Ray-Chowdhury p=. DATE: 05/25/2016 p=. TIME: 12:00 PM-1:00 PM EST (9:00 AM-10:00 AM PST, 6:00 PM-7:00 PM GMT) Podcast Dial in Phone # 1-302-202-1112, Enter Podcast Dial in Code # 122681 Are you interested in learning about recent clinical and research developments and available treatment options for Crigler Najjar Syndrome? What questions would you ask about symptom management of Crigler Najjar Syndrome if you had the experts at hand? Do you have any burning questions you have wanted to ask about Crigler Najjar Syndrome but haven’t had the chance to? Here is that chance! The first 25 minute segment will feature medical scientists/clinicians discussing the latest developments in Crigler Najjar Syndrome regarding genomics and biotechnology research, while the remaining 20 minutes the guest speakers will answer your questions/concerns/issues Here is your chance to ask any question you may have about Crigler Najjar Syndrome: Submit your question(s) NOW by clicking this form "(RareShare Crigler Najjar Syndrome Podcast Registration form)":https://docs.google.com/forms/d/1R7EkuQM4NdxPThBh15C20S3rdm_VwRcVumuBYMdh_LY/viewform and/or register to attend the program.** Example questions are: What are the acute symptoms of Crigler Najjar Syndrome? What is the difference between CN1 and CN2? What kinds of treatments or therapies are available for Crigler Najjar Syndrome? Register below to reserve your spot in the call! PS. If you cannot participate but would like to ask our experts any questions, please submit them below. The transcript and recording will be posted on the homepage of Rare Genomics and RareShare Crigler Najjar Syndrome Community after the live Q&A. *Meet our Panel of Expert* p=. Dr. Piter J. Bosma, PhD Assistant Professor at Academic Medical Centre (AMC) Division of Gastroenterology and Hepatology and Principal Investigator at Liver Center, Amsterdam, Netherlands p=. Dr Bosma completed his PhD from TNO Dept. Metabolic Health Research Leiden, The Netherlands under the mentorship of Dr T Kooistra. His Post doctoral work involved cloning of UGTA1 gene and mutational analysis of Crigler- Najjar Syndrome patients. He has been working in the CNS field from more than 25 years. Dr Bosma’s main focus is to develop Adeno Associated liver directed gene therapy to treat inherited unconjugated hyperbilirubinemia. This research is funded by the Dutch Najjar foundation and by ZonMw. In collaboration with the group of Prof. Dr Labrunne and the AFM his team plans to start a phase 1 trial by end of 2016 or early 2017. Successful application of AAV in this patients will also enable the team to use this strategy to treat other inherited liver diseases such as PFIC. Dr Bosma also worked on "The role of inter cellular signaling in the development of liver diseases and bile formation". Using in vitro and in vivo knock-down Dr Bosma’s team will determine the role of liver specific transport proteins in liver function. In addition to their role in bile formatin they are investigating their potential role in inter cellular signaling for instance via the formation of exosomes and microvesicles. Dr Bosma has published in numerous highly ranked peer reviewed journals such as pLOS one, Cancer Gene Therapy, PNAS, Hepatology. p=. Dr. Hendrik J. Vreman, PhD Senior Research Scientist and Laboratory Director of the Pediatric GCRC in the Department of Pediatrics, Stanford, CA, USA p=. Dr Vreman started his career at Stanford University in 1975. In his role as Senior Research Scientist in the Department of Pediatrics, since 1982, he has achieved a number of important contributions to the fields of neonatology and pediatrics, such as the development of the first sensitive and accurate bedside monitor of end-tidal breath carbon monoxide, as an index of bilirubin production in neonates, characterization of drug candidates for use in the prevention of neonatal jaundice, and the development of the first phototherapy device utilizing blue-light-emitting diodes as a light source. Dr Vreman embodies the ideal of a committed and creative scientist, who brings research from the "bench" to the "bedside" -- the true translational and clinical scientist with the general public in mind. As a teacher, he has trained and mentored many undergraduate, graduate, and post-graduate students -- most of whom have achieved successful academic careers. He has also formed strong friendships and successful collaborations with all of his colleagues, nationally and internationally and published in highly ranked journals. p=. Dr Jayanta Roy-Chowdhury, MD Gastroenterologist, Albert Einstein College of Medicine, New York, NY, USA p=. Dr. Roy-Chowdhury graduated from Calcutta Medical College in 1965 and has been in practice for 41 years. He completed a residency and Gastroentrology Fellowship at Nassau University Medical Center, Stonybook University, New York. Dr. Roy-Chowdhury specializes in Internal Medicine, Gastroenterology and Hepatology. He currently practices at Albert Einstein College of Medicine, and is affiliated with Jack D Weiler Hospital and Montefiore Medical Center. Dr. Roy-Chowdhury is the Director of the Genetic Engineering and Gene Therapy shared facility of Albert Einstein College of Medicine. His research focuses on Hepatocyte transplantation, Stem cells and gene therapy. His lab is working on three major projects 1) Hepatocyte-based therapies for genetic liver diseases, 2) Human embryonic and pluripotent stem cells as sources of hepatocytes for CNS patients, 3) Gene therapy via recombinant viral vectors and non-viral vehicles and his research has been published in various high tier journals. Sign-in "here":https://docs.google.com/forms/d/1R7EkuQM4NdxPThBh15C20S3rdm_VwRcVumuBYMdh_LY/viewform to reserve your spot for the Podcast! Contact Rare Genomics Institute "www.raregenomics.org":http://www.raregenomics.org/ or via email: contact@raregenomics.org Phone: +1 844-448-RARE (7273) 2657 Annapolis Road Suite G #105 Hanover, MD 21076 USA

Community E-books
Title Description Date Link
Crigler-Najjar Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare) Crigler-Najjar Syndrome (CNS) is an inherited disorder that is characterized by high levels of bilirubin in the blood, a toxic waste product when present for too long in the body. The estimated prevalence of CNS is less than 1 in 1-million with less than one thousand cases reported. For more brief information about CNS, check out the Crigler-Najjar ebook. 02/27/2017
Community Podcasts
Title Description Date Link
Crigler Najjar Syndrome Ask The Experts Podcast Series (05/25/2016)

Featuring Dr. P.J. Bosma (AMC), Dr Hendrik J. Vreman (Stanford), and Dr Jayanta Roy-Chowdhury (AECM). (Music credit:www.bensound.com)

08/17/2018
Community External News Link
Title Date Link
Community Resources
Title Description Date Link

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CNS Podcast 05/25/2016

Created by deepask1 | Last updated 31 May 2016, 02:56 PM

Criggler Najjar Syndrom Podcast on 05/25/2016

Created by deepask1 | Last updated 23 May 2016, 04:14 PM


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