LMNA Update | Newsletter

LMNA Lifestyle questionnaire | Living with Congenital Heart Disease (webinar) | 4th International Meeting on Laminopathies 2023 | LMNA medical provider information | Action for LMNA

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

– LMNA Lifestyle questionnaire

– Living with Congenital Heart Disease (webinar)
– 4th International Meeting on Laminopathies 2023
– LMNA medical provider information

– Action for LMNA

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. 

Global Heart Hub is partnering with AEPOVAC to host a patient-focused, free webinar on Thursday, April 20^th from 4-5 pm GMT on ‘Living with Congenital Heart Disease’. The session is open for all, and will offer lessons, advice, and tools for patients, carers, families, and the communities around those living with congenital heart disease, as well as uplift and centre the voices of patients with first-hand experience. This webinar will take place in English but include live audio translations into Spanish.

We hope to see you there! You can register at this link, and we would greatly appreciate it if you could share the session. 

We are proud sponsor of the 4th International Meeting on Laminopathies and will attend this meeting from the 9th to the 12th of May 2023 in Madrid (Spain). 

4^th International Meeting on Laminopathies 2023

The 4th International Meeting on Laminopathies will bring together a wide range of experts in the field of these rare diseases caused by mutations in genes encoding proteins of the nuclear envelope. Laminopathies can affect single tissues (mainly striated muscle, adipose tissue and peripheral nerve) or multiple organs. Numerous mutations have been associated with laminopathies, but the mechanisms underlying disease initiation and progression remain poorly characterized. Accordingly, there is a lack of specific and effective treatments for laminopathies. The meeting will be open to researchers, physicians and patients from around the world with the main goal of synergistically exchange knowledge and ideas to better understand laminopathies and help develop new therapies. The meeting will include sessions focused on basic-molecular research, disease-modeling, as well as therapeutic and clinical aspects of laminopathies. Patients will be part of the meeting in a specific session co-organized with scientists. The number of participants (~200) and format of the event will promote the dialogue between all the main stakeholders involved in the study of laminopathies. In summary, the 4th International Meeting on Laminopathies will be a multidisciplinary scientific meeting focused on helping researchers and clinicians to find effective therapies and eventually the cure for laminopathies.

Please let us know if you will also be attending this meeting, it would be very nice to meet you there.

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 below via email to info@lmnacardiac.org. We suggest thatyou 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, we will 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

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ACTION FOR LMNA

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?