News

gnomAD papers are online

We, at the ICG, are honored to be part of the collection of research articles and related content from the gnomAD Consortium describing and analysing human genetic variation.
Although our input was only marginal we and all the other more than 100 PI made it possible to collectively analyse such a large number of exomes and genomes.
Thank you very much to the team, who originally started this project years ago. Your impact on human genetics is almost priceless.
The collection of papers is publicly available here: https://www.nature.com/collections/afbgiddede

Virtual Retreat of the ICG

On May 26/27 2020 we will have our annual retreat, this time virtually by using zoom.

Due to the SARS-Cov-2 pandemic we are not allowed to travel nor to meet with a larger group of people. This is why we decided to organize our annual retreat as a virtual event. This will be a very special experience, we will see how it will turn out in the end. However, we are all looking forward to the retreat in 2021, hopefully outside of Lübeck.

Reopening of the Institute

After approval of our hygiene concept, we will be able to slowly start up our laboratory operations from 4 May onwards under strict consideration of hygiene measures.
The most important measure is that we had to form two independent teams, which are not allowed to meet personally in the coming weeks. We have decided that team A will now work in the laboratory from Monday – Wednesday and team B from Thursday – Saturday. All in all, the distance rules must be observed.
After almost 6 weeks of “physical distancing” these are the first steps into a life with SARS-Cov-2 and laboratory work on a hopefully soon normal level.
I am very thankful to all staff members that we got through the weeks together, virtual meetings have contributed a lot and will accompany us over the next weeks or months.
At the moment we just have to get used to the new conditions and be patient.

Show Your Mask

From April 29, 2020 it will be mandatory to wear a mouth and nose protector in our federal state Schleswig-Holstein to prevent further spread of SARS-Cov-2.

We, as employees of the ICG have pointed out already days ago that these masks are useful, not as self-protection, more in the sense of “All for one, one for all”.

 

We are so thankful to Viviana who provided us with these beautiful self-made masks.

Shutdown of the Institute due to Coronavirus SARS-CoV-2

Since March 16th, 2020 the Institute for Cardiogenetics is basically in shutdown modus.

We follow the advise of our President and our Chancellor of the University and maintain only a minimum of experimental research activity. However, all members of the ICG are currently working in homeoffice and you can reach us by mail and phone.

Please stay safe and sound!

#StayAtHome #StaySafeAtHome #COVID19 #SocialDistancing

Guest lecture by Valerie Allamand about Collagen VI-deficiency and its consequences on the myomatrix

On November 27, 2019 at 3 pm in the seminar room EG (MFC1) the guest lecture given by Valerie Allamand will take place.

You are happily invited! 

Valerie Allamand, PhD

Lund University & Research Center of Myology Inserm Paris, France

“Collagen VI-deficiency and its consequences on the myomatrix”

November 27, 2019, 3 p.m., Seminar Room EC (MFC1)

Valerie Allamand is a group leader at UMR S974-Institut de Myologie, Paris (France). Currently, she is working at Lund University as a visiting research fellow. Valerie Allamand studies the physiopathology and therapeutic approaches for ColVI-related myopathies.

Collagen VI-related myopathy is a group of disorders that affect skeletal muscles and connective tissue. Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe. Currently, no cure is available.

Deutsche Gesellschaft für Muskelkranke e.V (DGM)

Raising awareness for rare diseases is extremely important. As a patient affected with a rare disease (Collagen 6 congenital muscular dystrophy) Jeanette Erdmann, director of the ICG, wants to spread the word about help and information, including potential therapies.

To achieve this Jeanette Erdmann candidated sucessfully for chairman of the Landesverband Schleswig-Holstein of the Deutsche Gesellschaft für Muskelkranke e.V (DGM).

The DGM (www.dgm.org) was founded in 1965 as a parent initiative supported by doctors and business people.

At that time, the primary goal was to research and combat muscle diseases (DGBM), which is why the society was initially called “Deutsche Gesellschaft Bekämpfung der Muskelkrankheiten” (German Society for Combating Muscle Diseases).

Over the years, the range of tasks has greatly expanded and the idea of self-help has gained in importance. Not only to promote research, but at the same time to support those affected and their relatives on their way with a muscle disease, this is still one of the most important goals of our organization. For this reason, since 1993 it has been called the German Society for Muscle Diseases (Deutsche Gesellschaft für Muskelkranke e.V.). (DGM).

Today the DGM has more than 8000 members and is therefore not only the oldest but also the largest self-help organisation for people with neuromuscular diseases in Germany. The DGM offers its members advice, help and the opportunity to exchange experiences with other patients. In addition, the DGM is committed to the interests of those affected in the field of health policy and specifically promotes research in the field of neuromuscular diseases.

Experts estimate that more than 100,000 people in Germany are affected by a neuromuscular disease. There are currently around 800 different known diseases, each of which is rare, in some cases extremely rare. The majority of neuromuscular diseases are hereditary and unfortunately still incurable today. For those affected, such a disease primarily means the progressive loss of their mobility. Everyday activities become hard work and can only be mastered with the help of outside help and appropriate aids. Depending on the disease, those affected have to struggle with organic weaknesses and have to reckon with a drastically shortened lifetime. Some illnesses have a considerable impact on the lives of those affected even in childhood. Other illnesses only occur in adulthood and tear the affected people and their families out of their normal lives.

Since there is no cure for these illnesses, the preservation of quality of life, the individual adaptation of soothing therapies and the optimal provision of aids are particularly important for those affected. In addition to the ever increasing physical limitations, the examination of such a diagnosis is often mentally very stressful for those affected and their families. In addition, there are often lengthy discussions with health insurance companies and other payers.

People with muscle diseases hardly have a lobby. In most cases, the diseases are too rare to be of interest for pharmaceutical-funded research. Patients not only have to learn how to deal with the disease, but also have to explain their illness to an often ignorant environment. The DGM offers patients a wide range of support and advice, initiates research and carries out important public relations work to make these diseases better known.

People with muscle diseases need your help. By supporting the DGM in its work, you can help them.

Research Topic: From GWAS hits to treatment targets – published as an eBook

The Research Topic: “From GWAS hits to treatment targets” was accompanied by a symposium held in Lübeck on January 12th, 2018. The agenda and pics can still be found here.

About the Research Topic:

Genome-wide association (GWA) studies, as a prototype of large-scale OMICs studies, have advanced our understanding of the genetic basis of many common diseases. With respect to coronary artery disease (CAD) and cardiovascular risk factors, like lipids, blood pressure or BMI, they have identified hundreds of chromosomal loci that modulate disease risk. Despite their scientific success, GWA studies have been criticized for having failed so far in delivering diagnostically or therapeutically relevant products.
However, the ability to achieve such goals has been strengthened recently by further layers of OMICs-based data, including large-scale transcriptomics data, and better annotation of regulatory sequences and epigenetic changes in the genome (e.g. through the ENCODE project), as well as novel tools for bioinformatics analysis, allowing a systems medicine based approach to be applied.

All in all, the last decade with its “gold rush of genomic discovery” led to the identification of known and novel pathways involved in the pathogenesis of cardiovascular diseases and point to novel treatment targets.

The aim of this Research Topic was to gather contributions from scientists working in the field of cardiovascular genetics who have common interests in understanding the pathomechanisms linking genetic association findings and disease to finally translate the findings from large-scale genetic studies into novel treatment options.

The Research Topic: “From GWAS hits to treatment targets” can now be downloaded as an eBook.

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