Upcoming Rare Genomics Events, Conferences and Speaking Appearances
Invitation to Upcoming Podcast Discussion
RG/RareShare Ask the Experts Crigler Najjar Syndrome Podcast Series
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-
Dr PJ Bosma, Dr Hendrik Vreman & Dr Jayanta Ray-Chowdhury
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) 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
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
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.
Dr. Hendrik J. Vreman, PhD
Senior Research Scientist and Laboratory Director of the Pediatric GCRC in the Department of Pediatrics, Stanford, CA, USA
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.
Dr Jayanta Roy-Chowdhury, MD
Gastroenterologist, Albert Einstein College of Medicine, New York, NY, USA
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 to reserve your spot for the Podcast!