The American Endocrine Society “ENDO 2011” conference, Boston USA – June 2011
I graduated from Newcastle University medical school in 2005 (MBBS honours, MRes) and I am now a clinical diabetes and endocrinology trainee in the Northern Deanery. I am currently taking time out of clinical training to undertake a full-time PhD, funded by the Medical Research Council, at the Institute of Genetic Medicine within Newcastle University. The focus of my research is autoimmune Addison’s disease. This is a relatively rare endocrine condition which results in failure of the adrenal glands to produce steroid hormones that are essential for life. Individuals who have Addison’s disease must take tablets twice or sometimes 3 times a day, lifelong, for survival.
The steroid tablets that individuals with Addison’s disease must take are not a cure. For example, if people with Addison’s disease forget to take their tablets, they quickly become unwell (usually within 72 hours) and may die. Even when taking their tablets, they are prone to unpredictable episodes of severe illness, known as Addisonian crisis, which can result in hospital admission and sometimes death. The possibility of having a crisis can make what most people consider “routine activity”, like travel, difficult for affected people. In addition, people with Addison’s are prone to long-term adverse effects of the medications that they must take, such as type 2 diabetes and osteoporosis. These long-term effects result from slight steroid excess which occurs because our steroid replacement therapy is imperfect compared to the body’s natural steroid production. In addition, more than half of people who have Addison’s disease will also have, or go on to develop, another autoimmune condition such as thyroid disease or type 1 diabetes and they may therefore require additional care to manage these conditions. Addison’s patients are therefore followed up regularly in the outpatient clinic (usually annually) long-term.
Addison’s disease is therefore clearly not a benign condition however, perhaps because it is rare, and perhaps because there is an available, all be it, imperfect treatment, the treatment for this condition has not moved on since the first steroid tablets were made in the 1940’s. In addition, we still know relatively little about what causes Addison’s.
My research is divided into two related areas. The main part of my laboratory research is aimed at gaining a greater understanding of the underlying cause of Addison’s by investigating the genetics of this fascinating condition. In addition, I am involved in a clinical trial investigating a new treatment for Addison’s disease.
In the laboratory, I am looking at the underlying genetic causes of Addison’s disease. To date, I have used the candidate gene approach (selecting a gene and then looking to see if it is involved in Addison’s disease) to identify a number of genes which contribute to Addison’s susceptibility. I am also currently performing a linkage study on the DNA samples from Addison’s families on a genome-wide basis (looking at the entire DNA sequence rather than individual genes only). This second approach, to my knowledge, has not been attempted before in Addison’s disease! I have also been involved in a clinical pilot study, funded by the Medical Research Council, looking at the impact of an immune system modulator (a drug named Rituximab) on people who have recently been diagnosed with Addison’s disease. This trial has produced some interesting insights into Addison’s disease and is almost complete.
I am very grateful to have received a travel grant from the Simon Wolff Charitable Foundation towards attending the American Endocrine Society “ENDO 2011” conference in Boston in June of this year to present some of my research. I presented a poster titled “The Th17 pathway influences susceptibility to autoimmune Addison’s disease” which details some of the laboratory work I have been doing. During the poster presentation, I found myself chatting to some of the experts in the field about the work that I am currently doing and my plans for future research in the field. In addition, our research group also presented a poster titled “Immunomodulation of new onset Addison’s disease using B lymphocyte depletion therapy: interim analysis” which details the preliminary results of the therapeutic trial which I have been involved in.
The ENDO conference is the biggest endocrinology conference that occurs annually. Attending was a fantastic opportunity for me to learn a huge amount about a diverse range of endocrine conditions in plenary lectures, symposia and clinical management forums spread over four days. In addition, attending ENDO 2011 offered a fantastic forum to present some of my work to interested colleagues and to highlight the importance of Addison’s disease.
The conference was very intense, with lectures starting early in the morning and running throughout the day. My only criticism was that on occasion, there were too many interesting sessions running in parallel, and I was spoilt for choice! I was in Boston for 5 days in total, and so did have some free time to see the city. I had not visited Boston before and I found it be a lovely, friendly city. It was beautifully sunny for the duration of my visit and I really enjoyed walking around in my free time, sampling the delicious seafood, and I was even lucky enough to see humpback whales on a short afternoon boat trip out of the harbour!
I wish to thank the Simon Wolff Charitable Foundation for the award of a travel grant to attend this conference, and for their on-going commitment to supporting young researchers in both clinical and basic science fields.
Dr Anna Mitchell
MRC clinical research training fellow
The Institute of Genetic Medicine