Global Neurotransmitter Disease federation

GNDf 

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.

GNDO LOGO.jpg

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 : enquiries@aadcresearch.org 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

Acetylcholine deficiency

Proline Synthetase deficiency

Glutamate & GABA Metabolism Disorders:

Succinic semialdehyde dehydrogenase deficiency

GABA-transaminase deficiency

Glutamine deficiency

N-acetylglutamate synthase deficiency

Serine & Glycine Metabolism Disorders:

3-Phospho glyceratedehydrogenase deficiency

Phosphoserine aminotransferase deficiency

Phosphoserine phosphatase deficiency

Glycine decarboxylase deficiency

Aminomethyltransferase deficiency

A member of the GNDf

Global Neurotransmitter Disease

federation

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

#GNDf

#RAREis

We would like to thank our MBA team at Cambridge University for their assistance with this project.

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e: enquiries@aadcresearch.org

Tel: 01883 674467

 

The AADC Research Trust

Soper Hall, 2 Harestone Valley Road,

Caterham, Surrey, CR3 6HY

Registered Charity UK & Wales No: 1114367

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