May 2023 | LMNA Cardiac Newsletter

LMNA Update | Newsletter

Free webinar | Action for LMNA | 4th International Meeting on Laminopathies 2023 | LMNA medical provider information | LMNA Lifestyle questionnaire

In todays LMNA newsletter we have the following topics for you:

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

– Action for LMNA (your help is needed)
– 4th International Meeting on Laminopathies 2023 (update)
– LMNA medical provider information
– LMNA Lifestyle questionnaire

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

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

DONATE NOW

ACTION FOR LMNA

We need your help! We’re now on € 44.700,- which is 44% of the amount needed for this LMNA Action.

Read more and please help us to reach this goal:

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?

4^th International Meeting on Laminopathies 2023

We’ve attended the 4th International Meeting on Laminopathies in Madrid – Spain (as one of the proud sponsors) and would like to thank and congratulate the organization for this amazing meeting. See above some of the pictures taken during this very informative meeting. 

More information on the 4th International Meeting on Laminopathies 2023, see: https://www.laminopathy2023.com

HELP US COMPILE LMNA MEDICAL PROVIDER INFORMATION

Please send your responses to the questions via email to info@lmnacardiac.org. We suggest that you copy the questions, paste them and provide responses after each question.

If you choose to respond by email, your email address will be kept confidential and will not appear in the document that we are putting together. And, of course, wewill not be sharing your email address or contact information with anyone.

Here is the information that we are seeking:

1. Physician/provider name, city and state (if within USA) or city and country (international)
2. Physician/provider type (cardiologist, electrophysiologist, etc.)
3. Hospital, Organization, or Group Name
4. Contact info
5. Would you recommend this physician/provider to others in our LMNA group?

Thank you for your input.

Your email will be responded to with a simple confirmation of receipt, and no other email will be going to you as a result of this survey.

If you have questions or comments about the survey process, this list, or any of the listing, please email to info@lmnacardiac.org

The first version of the medical provider list can be found here. 

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.