Global Neurotransmitter Disease federation
The AADC Trust is very excited about our new project. We are investigating the need for, and ultimately the creation of, an umbrella organisation, to be named the Global Neurotransmitter Disease federation (GNDf). The organisation will support many under-represented ultra RARE neurotransmitter brain diseases. These disorders will either be newly described or without a support group/network in existence since the disease was first described. Initially we are aiming to include over 20 diseases.
The families in these groups of largely unsupported disorders will have limited, if any, access to medical and therapeutic experts, family support networks and in some cases, access to medications, which may help those in their family who are afflicted. This can be due to multiple factors including geographical location of affected families and medical experts unaware of the existence of these ultra RARE diseases, making it extremely difficult to both diagnose and subsequently care for those affected in their communities putting children and young adults lives at risk.
We are currently creating a database of the selected ultra RARE diseases and making efforts to connect with the effected families. The collection of such invaluable data from various sources will enable us to gain better knowledge of the diseases and their different mutations. We will then be able to support the families, raise awareness through various channels, engage and educate the medical community and increase investment to raise awareness, advance research and provide treatment.
Many medical and scientific members within AADC Trust have already committed to this project and multiple collaborations are developing.
Currently Shekhar Singh, our researcher, is working on the database. He can be contacted via : should you be interested in further information.
Potential member groups within the GNDf infrastructure may (but not exclusively) include the following diseases:
Catecholomines & Serotonon Metabolism Disorders:
Aromatic Amino Acid Decarboxylase deficiency
Tryosine Hydroxylase deficiency
Dopamine beta-hydroxylase deficiency
Monoamine oxidase A deficiency
Dopamine transpoter deficiency
Vesicular monoamine transporter 2 deficiency
Tetrahydrbioptrein (BH4) Metabolism Disorders:
6-pyruvoyltetrahydropterin synthase deficiency
Dihydropteridine reductase (DHPT) deficiency
pterin-4 alpha-carbinolamine dehydratse 1 deficiency
Autosomal dominant GTP cyclohydrolase 1 deficiency
Autosomal recessive GTP cyclhydrolase 1 deficiency
J domain-containing protein 1
Folate Metabolism Disorders:
Pyridox(am)ine 5'-phosphatase oxidase deficiency
Proline Synthetase deficiency
Glutamate & GABA Metabolism Disorders:
Succinic semialdehyde dehydrogenase deficiency
N-acetylglutamate synthase deficiency
Serine & Glycine Metabolism Disorders:
3-Phospho glyceratedehydrogenase deficiency
Phosphoserine aminotransferase deficiency
Phosphoserine phosphatase deficiency
Glycine decarboxylase deficiency
A member of the GNDf
Global Neurotransmitter Disease
Ultimately, under the GNDf umbrella we aim to create a community for ultra RARE disease families that will give them a voice so that they can be heard.
#Pioneering a CURE
We would like to thank our MBA team at Cambridge University for their assistance with this project.