Marco Savarese
@marsavarese.bsky.social
Myofin Principal Investigator@Folkhälsan Research Center.
Reposted by Marco Savarese
🚨Publication alert!🚨
First author Veronica's summary of the article:
"This study examined six individuals from five unrelated families who carried truncating variants in exon 363 of the TTN gene, all presenting with recessive titinopathies." (1/4)
First author Veronica's summary of the article:
"This study examined six individuals from five unrelated families who carried truncating variants in exon 363 of the TTN gene, all presenting with recessive titinopathies." (1/4)
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe
In six patients from five families, we identified two novel exon 363 pathogenic variants causing recessive titinopathies. Patients with a recurrent Eastern European founder variant presented with juv....
onlinelibrary.wiley.com
November 27, 2025 at 1:48 PM
🚨Publication alert!🚨
First author Veronica's summary of the article:
"This study examined six individuals from five unrelated families who carried truncating variants in exon 363 of the TTN gene, all presenting with recessive titinopathies." (1/4)
First author Veronica's summary of the article:
"This study examined six individuals from five unrelated families who carried truncating variants in exon 363 of the TTN gene, all presenting with recessive titinopathies." (1/4)
Reposted by Marco Savarese
#RareDiseaseDay is on the last day of February (28th or 29th).
Approximately 5% of the world's population is affected by a rare disease. Rare Disease Day is an important initiative for us, as nearly 90% of neuromuscular disorders are classified as rare diseases. (1/5)
Approximately 5% of the world's population is affected by a rare disease. Rare Disease Day is an important initiative for us, as nearly 90% of neuromuscular disorders are classified as rare diseases. (1/5)
February 28, 2025 at 7:53 AM
#RareDiseaseDay is on the last day of February (28th or 29th).
Approximately 5% of the world's population is affected by a rare disease. Rare Disease Day is an important initiative for us, as nearly 90% of neuromuscular disorders are classified as rare diseases. (1/5)
Approximately 5% of the world's population is affected by a rare disease. Rare Disease Day is an important initiative for us, as nearly 90% of neuromuscular disorders are classified as rare diseases. (1/5)
Reposted by Marco Savarese
A significant portion of patients with neuromuscular disease remain without a genetic diagnosis, and most neuromuscular disorders still lack a cure. Our work is crucial for providing proper diagnoses and ultimately developing therapies for these patients. (6/6)
February 10, 2025 at 11:47 AM
A significant portion of patients with neuromuscular disease remain without a genetic diagnosis, and most neuromuscular disorders still lack a cure. Our work is crucial for providing proper diagnoses and ultimately developing therapies for these patients. (6/6)
Reposted by Marco Savarese
While our main interest are neuromuscular disorders caused by mutations in the titin (TTN) and nebulin (NEB) genes, there are many other projects always going on in the group. (5/6)
February 10, 2025 at 11:47 AM
While our main interest are neuromuscular disorders caused by mutations in the titin (TTN) and nebulin (NEB) genes, there are many other projects always going on in the group. (5/6)
Reposted by Marco Savarese
… to investigate nutrition and self-reported functioning in persons with neuromuscular diseases, and to evaluate therapeutic interventions. (4/6)
February 10, 2025 at 11:47 AM
… to investigate nutrition and self-reported functioning in persons with neuromuscular diseases, and to evaluate therapeutic interventions. (4/6)
Reposted by Marco Savarese
Our research aims to identify the genetic variants causing neuromuscular disorders, to understand the normal structure and function of muscle and their alterations in disease, … (3/6)
February 10, 2025 at 11:47 AM
Our research aims to identify the genetic variants causing neuromuscular disorders, to understand the normal structure and function of muscle and their alterations in disease, … (3/6)
Reposted by Marco Savarese
Our team, led by Dr. Marco Savarese, studies different aspects of hereditary myopathies and muscular dystrophies, continuing the work of the Carina Wallgren-Pettersson and Bjarne Udd groups at FHRC. (2/6)
February 10, 2025 at 11:47 AM
Our team, led by Dr. Marco Savarese, studies different aspects of hereditary myopathies and muscular dystrophies, continuing the work of the Carina Wallgren-Pettersson and Bjarne Udd groups at FHRC. (2/6)
Reposted by Marco Savarese
We are the Myofin Research Group, part of the Genetics Research Program at Folkhälsan Research Center, Helsinki, Finland. (1/6)
February 10, 2025 at 11:47 AM
We are the Myofin Research Group, part of the Genetics Research Program at Folkhälsan Research Center, Helsinki, Finland. (1/6)
Reposted by Marco Savarese
Analyzing 145 hard-to-detect variants using HiFi long-read sequencing (LRS), ajhgnews.bsky.social latest article by christiangilissen.bsky.social, ahoischen.bsky.social, & co. highlight LRS as a promising single technology for rare disease diagnosis: www.cell.com/ajhg/abstrac... #ASHG
January 23, 2025 at 8:34 PM
Analyzing 145 hard-to-detect variants using HiFi long-read sequencing (LRS), ajhgnews.bsky.social latest article by christiangilissen.bsky.social, ahoischen.bsky.social, & co. highlight LRS as a promising single technology for rare disease diagnosis: www.cell.com/ajhg/abstrac... #ASHG