Research study at Penn State University, USA.

 

We are currently seeking research participants who have been diagnosed with idiopathic hypogonadotropic hypogonadism (IHH), including Kallmann Syndrome (KS), for such a study. This study is being run through the Pennsylvania State University Department of Anthropology and in collaboration with Dr. William Crowley of the Massachusetts General Hospital and Harvard University. To participate, you must be 18 years of age or older.

Although you may wish to participate out of a desire to promote this research, you will also be compensated for your participation (about 45 minutes online) with $25. We would also like relatives of IHH participants (siblings or first cousins) to participate in the study. If you have IHH (including KS) and have a relative who might be interested in participating, please pass this information on to them. You may still participate even if you do not have a relative who is willing to participate in this study. To find out more about the study and to sign up, please visit the following website: http://putslab.la.psu.edu/research.html 

If you have other questions about this study that are not answered on the study website, please contact me at dap27@psu.edu. Thank you, David Puts, Ph.D. Assistant Professor

Kallmann syndrome patient meetings.

The last patients meetings were held in the UK in November 2015.

It is hoped to hold patient meetings both in the UK and USA in 2106. No dates have been set yet but the USA patient meeting will probably be in June in Boston.

As soon as dates and venues are confirmed details will be posted here and any other website / patient group I can think of.

Genetic Alliance UK - Rare Disease Day 2016.

The Genetic Alliance UK is a charity set up to raise the awareness of rare diseases and provide support for patients. As part of the Rare Disease Day in 2016 they commissioned a report on the experiences of patients with rare disorders. The hope is to provide evidence to submit to the government to help funding for the treatment & diagnosis of rare disorders.

I submitted a patient story for Kallmann syndrome / Delayed puberty which was included in the final published report which was published in Jan 2016.

Four patients, with differing rare conditions were invited to provide a video presentation as well. It was an interesting experience hearing the experience of other patients, sharing some similarities even though we had totally different conditions.

The video will be posted in due course hopefully.