Boparan Charitable Trust www.
Make-a-Wish UK https://www.make-a-wish.org.
Strongbones http://www.strongbones.org.
Variety https://www.variety.org.uk/
New Victoria Foundation http://www.
Newlife http://meru.org.uk
MERU http://meru.org.uk
QEF http://qef.org.uk
SOS!SEN www.sossen.org.uk/
Ruils www.ruils.co.uk
Caudwell Trust http://www.
Whizzkidz http://www.whizz-kidz.org.uk
Children’s Trust https://www.
Whizzybug http://www.designability.org.
Seating
Smirthwaite Juni chair with hi/low base (http://www.smirthwaite.co.uk/
R82 Wombat (http://www.r82.co.uk/
Permobil Koala Mini http://www.permobil.com/en-GB/English/C/Products/Koala-Miniflex/
Steps at washbasin at school built by Remap http://www.remap.org.uk
Steps to reach toilet at school built by local carpenter
St George’s Hospital, London, UK
Dr S. Mansour
Dr. A. Sagaar
Dr K. Daly
Dr. S. Mitton
Great Ormond Street Hospital, London, UK
Mr. D. Thompson
Mr. S. Tucker
Bristol Children’s Hospital, Bristol, UK
Dr. S. Smithson
Evelina Children’s Hospital, London, UK
Dr. M. Cheung
Dr. M. Irving
Dupont/Nemours Hospital, Newark, Delaware, USA
Dr. W. McKensie
Emory Hospital, Atlanta, Georgia, USA
Dr B. Wilcox
Genetic Testing:
DDD Study – August 2014- No results
The Deciphering Developmental Disorders (DDD) study aims to find out if using new genetic technologies can help doctors understand why patients get developmental disorders. https://www.ddduk.org/
100,000 genomes sequencing Study- November 2016- Awaiting results
St George’s Hospital, Genetics department
The project sequences 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.
https://www.genomicsengland.co
Rare Genomics Institute – Discover Program, Columbia University, NY, NY, USA
http://www.cumc.columbia.edu/d
DNA Testing of Goldblatt Gene- 2013- Gene not found- Dr Sheila Unger
Lausanne University Hospital (CHUV) – Centre Hospitalier Universitaire Vaudois
Research documents on Goldblatt Syndrome- Orphanet
http://www.orpha.net/consor/cg
Genetic Research on Goldblatt Syndrome- OMIM (No.184260)
https://www.omim.org/entry/184