Providing information for patients and professionals on research and clinical care in genetic types of diabetes.

Information on Known Types of Rare Diabetes

Diabetes alone

  Latent Auto-immune Diabetes of Adulthood Early Onset Type 2 Diabetes Maturity Onset Diabetes of the Young
Age of onset Usually >25 25-40 < 25
Parents Affected 0 2 1
Obesity Rare Common Rare
Insulin Treatment Variable, usually within months or years of diagnosis Not initially Not initially
Inheritance Polygenic Polygenic Double gene dose Monogenic autosomal dominant
GAD autoantibodies Yes No No

Diabetes Related Conditions

The ISPAD Rare Diabetes Collection - What is it?

The ISPAD Rare Diabetes Collection was proposed at the annual meeting in Vienna 2001. It was felt that there were many rare forms of diabetes, which physicians would have very little experience of as they would only see a small number. It was hoped that by establishing a rare diabetes collection that it would be possible to pool information on these patients helping to assist with diagnosis, recognition of new syndromes and management.

The ISPAD Rare Diabetes Collection is a central resource based in Exeter in the UK which physicians can contact and provide clinical details on rare types of diabetes, as well as depositing blood which would be stored as DNA. With the express permission of the referring physician, the DNA would be sent to scientists throughout the world who would be able to make a molecular genetic diagnosis if the gene is already known or who were researching on the particular rare type of diabetes if the gene was unknown.

It is hoped that the central facility would collect rare cases of diabetes syndromes that had not been reported as it might well be that new clinical syndromes would start to be recognised. A recent example of this is the Renal Cysts and Diabetes Syndrome associated with HNF-1b mutations that has only been recognised in the last 3 years.

We hope that patients with rare types of diabetes and their doctors will be keen to contribute to this international resource to help our understanding of rare forms of diabetes. It is likely that as well as clarifying patient care and management, that there will also be new scientific insights from this work. ISPAD is keen that such work be encouraged under its auspices.

How can patients and doctors contribute to the ISPAD Rare Diabetes Collection?

Patients and their doctors should discuss if they are keen to contribute to the ISPAD Rare Diabetes Collection. If there are any initial enquiries about whether it would be appropriate then an email should be sent to Professor Hattersley in Exeter -

If the patients and doctors consent then it will be a case of sending a blood sample and clinical details to Professor Hattersley in Exeter. We would ask that a MODY diagnostic request form is filled out and/or any additional clinical details are given in a full typewritten report. Ideally this should be in English but translation facilities exist within ISPAD if this is not possible.

What will happen in Exeter?

In Exeter the blood will be made into DNA and stored in an anonymous form with no identifying details. The clinical details will be assessed and it will be looked at to determine whether it is likely to represent a known diabetes syndrome or a syndrome which has not been identified.

If it is seen that there is likely to be a benefit if the DNA is sent to an international scientific expert then an email requesting this will be sent to the referring physician. If they agree to this, then the details of the patient and their physician will be forwarded to the scientist who will be made aware that this patient has been referred from the physician and any further clinical details should be obtained from them. It would be hoped that in any arising publication that acknowledgement would be given to the ISPAD Rare Diabetes Collection but there would be no other requirement for authorship or manuscript review.

How do Scientists help with Analysis?

We are keen to hear from any scientist working within the field of Rare Diabetes. An email and contact number and list of genetic testing and genetic syndromes of interest should be sent to Professor A.T. Hattersley, email: When there are more than one international expert in the area it is anticipated that geographically the nearest centre will be used unless the physician expresses a specific preference. All scientists involved with the ISPAD Collection will need to sign a code of practice before they are sent any samples.