June 2023 | LMNA Cardiac Newsletter

LMNA Update | Newsletter | June 2023

Submit your LMNA mutation | Action for LMNA | Free webinar | And more

In this update we have the following LMNA information for you:

1) Submit your LMNA mutation!

2) Heart Tissue Bank

3) Action for LMNA (your help is still needed)
4) LMNA medical provider information
5) Lifestyle questionnaire on LMNA

6) Webinar: The who, what and when of implantable cardioverter defibrillators in LMNA Cardiomyopathy (free registration)

Submit your LMNA mutation

Please help us by submitting your LMNA mutation on the provided LMNA mutation form on the LMNAcardiac website.

You can choose to submit your mutation only, or with your name and emailaddress (which will ofcourse not be disclosed), so we can reach out to you regarding specific information on your LMNA mutation, connections with other people with the same LMNA mutation or similar.

What is the Heart Tissue Bank?

The Heart Tissue Bank is a central biobank in which heart tissue of deceased donors is stored for scientific research. This heart tissue can be used to study how a healthy heart functions or what exactly goes wrong in various heart diseases. In this way, diseases can be diagnosed earlier and/or better and better treatments can be made possible. By registering as a donor with the Heart Tissue Bank, people give permission to have their hearts included in this biobank after death.

DONATE NOW

ACTION FOR LMNA

We still need your help! We’re now on € 44.765,- which is almost half way to the amount needed for this LMNA Action.

A mutation in the lamin A/C gene can lead to serious heart muscle disease. That is why a lot of research is needed to find a new solution.

A very involved family, under the leadership of Rogier Veltrop, will help us in an international study set up in Maastricht (The Netherlands). This is extraordinary because there are very few family studies in which three generations are represented, with both males and females, mutation carriers and non-mutation carriers, symptomatic and asymptomatic. It will be investigated how the DNA is read after it has been folded in the cell nucleus. With an LMNA problem, we see that the uncoiling of the DNA – in order to read DNA properly in order to make proteins – is not done correctly and efficiently. This fits well with the current research on signaling pathways at the research school for cardiovascular diseases CARIM, Maastricht University.

We also want to use this family study as a precursor in the development of genetic corrections and therapies. This family, with and without the LMNA mutation, but also symptomatic and asymptomatic, has the same genetic pedigree and therefore provides more reliable information.

These projects are ready to start! Reprogramming and characterizing these cells costs about € 40,000 and then the actual research has to start afterwards. To get this project off the ground quickly, we will find new molecular mechanisms and ensure a good start of new much-needed gene therapy for LMNA patients. At least € 100,000 is needed to complete this project.

Patient organization LMNAcardiac is helping, will you all help to give substance to this project? Will you help this ground breaking research?

LMNA Lifestyle questionnaire

We are conducting a study to gain a better understanding of the lifestyle of individuals with LMNA-related diseases, as well as their family members. To achieve this goal, we kindly ask you to participate in our study by filling out a questionnaire.

Your responses will help us gain insights into the challenges and experiences of those affected by LMNA-related diseases, and will enable us to improve our understanding of how to best support them. The information you provide will be kept confidential and will only be used for research purposes.

We appreciate your willingness to participate in this study and thank you in advance for your time and effort. Your contribution will help us make a positive impact on the lives of those affected by LMNA-related diseases.

The who, what and when of implantable cardioverter defibrillators in LMNA Cardiomyopathy (webinar)

This Important and Informative Presentation will be Given by Boston, MA., USA’s Brigham and Women’s Transplant Cardiologist and LMNA Cardiomyopathy Expert, Dr. Neal Lakdawala. The presentation is organized by Mary Mack, admin of the the Patient Facebook Group @Laminopathies Support Group (mutations in the Lamin A/C Gene) and LMNA Cardiac Foundation.

Date: Tuesday July 18th 2023
@9:00am EST

Based Upon a Compilation of Ongoing Individual Patient Questions and Concerns from the Patient Facebook Group @Laminopathies Support Group (mutations in the Lamin A/C Gene), and any others.

Signup for this free presentation, using the registration form