The process

HERE YOU CAN SEE STEP BY STEP WHAT WILL HAPPEN AND HOW FAR WE HAVE COME



1) Enrollment

2) understand the disease better

3) work on gene therapy approach using mice first followed by human clinical trial and meanwhile create iPS cells to recreate the disease and potentially try other therapies.

PROJECT DETAILS


Enrollment

First, we will find so many of the other patients in the world with CNTNAP1.

Then they must fill in all the papers and have a telephone conversation with Dr. Pankaj B Agrawal and his team. Then they must submit blood samples / DNA from child, mother and father.

Understanding the disease better

We have gathered several different researchers from all over the world who have previously worked with cntnap1 who will work together to better understand the disease

Dr. Agrawal will also start to create iPS cells for future therapeutic testing and phenotyping by differentiating them into specific cells. Dr Gray will start to work on creating vectors for gene therapy and Dr Lutz and her team will work on the mouse model to further understand it better and try gene therapy when the vector is ready.

About Dr. Pankaj B. Agrawal


Resumé


Dr. Agrawal is a physician-scientist at Boston Children's Hospital (BCH) and Associate Professor of Pediatrics at Harvard Medical School. His research is focused on the determination of genetic and molecular basis of various orphan diseases presenting during early infancy and childhood. He has a special focus on neuromuscular disorders with the goal of finding specific therapies. Dr. Agrawal is also the Medical Director of The Manton Center Gene Discovery Core (GDC) based at BCH focused on determining the genetic basis of various rare diseases. As part of this research, families are enrolled with various rare and unidentified diseases. The GDC database now contains > 1500 families undergoing extensive efforts at deciphering their disease cause utilizing various technologies including whole exome, genome and/or RNA sequencing, modeling of variants in various cellular and animal models and determining therapeutic options when a causative genetic variant is identified. He is an Associate Member of the Broad Institute of Harvard & MIT and leads Neonatal Genomics Program within BCH. He has identified many novel genes in rare genetic disorders, published extensively in several high impact journals, and has been funded by various sources including foundations and NIH grants. He has received several awards for his clinical and research work and has presented his research both nationally and internationally.

experience

 

Associate Professor of Pediatrics

Harvard Medical School

januar 2018 – I dag  9 måneder

Boston


Associate Member

Broad Institute of MIT and Harvard

oktober 2015 – I dag  3 år

Cambridge, MA


Medical Director

Gene Discovery core, Manton Center for Orphan Disease Research

november 2010 – I dag  7 år 11 måneder

Boston Children's Hospital

We enroll patients with rare diseases to determine the genetic and molecular basis of their condition. We utilize various platforms including whole exome, genome sequencing and functional modeling of mutations to determine the genetic basis.



Attending Neonatologist

Boston Children's Hospital

juli 2003 – I dag  15 år 3 måneder

Boston


Assistant Professor, Harvard Medical School

Boston Children's Hospital and Harvard Medical School

oktober 2012 – december 2017  5 år 3 måneder

Boston


Instructor

Harvard Medical School

juli 2003 – september 2012  9 år 3 måneder

Boston


Fellow in Perinatal-Neonatal Medicine

Boston Children's Hospital, Brigham and Women's, MGH and Beth Israel Hospital

juli 2000 – juni 2003  3 år

Boston


Senior Resident

Monash Medical Center

1997 – 2000  3 år

Uddannelse


Harvard Medical School

MMSC, Medical Research

2001 – 2003

Postgraduate Institute of Medical Education and Research

D.M. (Neonatology), Newborn Care

1994 – 1996


The Maharaja Sayajirao University of Baroda

MD (Pediatrics), Pediatrics Residency Program

1990 – 1994


The Maharaja Sayajirao University of Baroda

Bachelor of Medicine, Bachelor of Surgery (MBBS), Medicine, Surgery, OB/Gyn and Preventive and Social Medicine

1984 – 1990

NAME



Pankaj B. Agrawal, MD MMSC


Attending Neonatologist


Director, Neonatal Genomics Program


Staff Scientist, Division of Genetics and Genomics


Medical Director, Gene Discovery Core, Manton Center for Orphan Disease Research   


Boston Children's Hospital                     


Associate Professor of Pediatrics, Harvard Medical School


Associate Member, Broad Institute of Harvard & MIT




Email: pankaj.agrawal@enders.tch.harvard.edu


FIND US



Rare Genetic Diseases


CVR-nr.: 39833794

Nørregårdsvej 87, 2610 Rødovre

Telephone: (+45) 25422003

Email: Cntnap1@hotmail.com


OPENING HOURS




Monday & Tuesday: Appointment

Wednesday to Friday: 6PM to 4AM

Saturday & Sunday: 6PM to 6AM


Copyright © All Rights Reserved