Folkhälsan Research Center

A comprehensive framework for the interpretation of TTN missense variants - Genome Medicine Background Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain archite...

🚨Publication alert!🚨

First author Maria Francesca’s summary of the article:

"Missense variants in TTN remain one of the greatest challenges in neuromuscular genetics.” (1/5)

When working to prevent childhood obesity, it is important to consider behaviour-related factors such as screen time, sleep timing, indicators of mental health, and eating behaviours.

Today, on World Obesity Day, we highlight the research being conducted at Folkhälsan to investigate factors that influence weight gain in adolescents. Obesity is a chronic disease that requires whole-of-society action.
@fin-hit.bsky.social
#WorldObesityDay

Uudet tutkimustuloksemme nyt luettavissa Sosiaalilääketieteellisen Aikakauslehden ennakkojulkaisuna:
Sosiodemografinen eriarvoisuus näkyy ylipainon indikaattoreissa jo varhaislapsuudessa: journal.fi/sla/article/...
#varhaislapsuus #terveys @folkhalsanresearch.bsky.social

Congratulations Anniina, for successfully defending your doctoral dissertation! Full text available here: urn.fi/URN:ISBN:978...
@helsinki.fi

Today is Rare Disease Day. 🩷💚💙💜

Approximately 5% of the world's population is affected by a rare disease. #RareDiseaseDay is an important initiative for us, as nearly 90% of neuromuscular disorders are classified as rare diseases. (1/5)

@rarediseaseday.bsky.social

Are you discarding titin missense variants? You have no idea what you're missing! rdcu.be/e5ZXk #titin #musclediseases #rarediseases @myofinlab.bsky.social @folkhalsanresearch.bsky.social

Myofin’s research aims to identify the genetic variants causing neuromuscular disorders, to understand the structure and function of muscle and their alterations in disease, and to evaluate therapeutic interventions.

A rare disease is a medical condition that affects fewer than 1 in 2,000 people and often entails extensive, lifelong consequences.

To mark Rare Disease Day on 28 February we want to highlight the importance of Folkhälsan’s research on rare neuromuscular diseases – both for our researchers and for the people living with a rare neuromuscular condition.
@myofinlab.bsky.social

🔗 Full text: urn.fi/URN:ISBN:978...

Anniina Pirttiniemi will defend her doctoral dissertation “Investigating kidney disease using animal, cell and organoid models: the role of polyphosphates and bacterial lipopolysaccharides behind kidney injury” on 27 Feb at 13 EEST, in Haartman-Instituutti, Sali 1, Haartmaninkatu 3, @helsinki.fi

Blood DNA methylation markers are associated with diabetic kidney disease progression in type 1 diabetes - Diabetologia Aims/hypothesis DNA methylation has been shown to be associated with kidney function and diabetic kidney disease (DKD), but prospective studies are scarce. Therefore, we conducted epigenome-wide assoc...

Syreeni and colleagues identified blood-derived methylation markers associated with progression of diabetic kidney disease in #Type1Diabetes in the @finndiane.bsky.social. link.springer.com/article/10.1... 🔓 #epigenetics #DiabetesResearch @folkhalsanresearch.bsky.social

Ansök senast 24.2: folkhalsan.rekrytointi.com/paikat/?o=A_...

Anställningen som programchef kan förenas med en anställning som svenskspråkig professor i medicinsk genetik vid Helsingfors universitet (tenure track eller professor på deltid med tjänstgöring 35 % av heltid).

Programchefen förutsätts etablera sin egen forskningsgrupp vid Folkhälsans forskningscentrum. Folkhälsan stöder gruppens verksamhet genom årlig, separat förhandlad finansiering.

Forskningen fokuserar på att identifiera genetiska och livsstilsrelaterade riskfaktorer samt mekanismer vid sällsynta genetiska sjukdomar och folksjukdomar med fokus på diabetes. Målsättningen är att utveckla nya metoder för diagnostik, prediktion, prevention och behandling av dessa sjukdomar.

Är du vår nya chef för programmet i genetisk forskning?
Som programchef är din uppgift att leda, koordinera och utveckla verksamheten i programmet för genetisk forskning.

Skärmtidsrekommendationerna för barn är klara – så här kommenterar Folkhälsans forskare och sakkunniga Flera av Folkhälsans forskare och sakkunniga var med i expertgruppen som tog fram de allra första nationella rekommendationerna för barns skärmbruk. Många familjers skärmtid överskrider de rekommender...

Läs hela artikeln med kommentarer av Folkhälsans forskare och sakkunniga här: www.folkhalsan.fi/nyheter/2026...

Flera av våra forskare och Folkhälsans övriga sakkunniga var med i expertgruppen som tog fram de allra första nationella rekommendationerna för barns skärmbruk. Vi frågade forskarna och de sakkunniga varför rekommendationerna är viktiga.

🚨 The Finnish national recommendations for children's digital media use are now published. Researchers from @folkhalsanresearch.bsky.social have been part of the expert network involved in preparing the recommendations and parents & children participated actively: thl.fi/en/-/recomme... #screentime

New research findings!

We found that better parental mental wellbeing was associated with
🏃 higher adolescent physical activity
📱 lower adolescent digital media use

@folkhalsanresearch.bsky.social @gyllenbergs.fi

Open-access article: doi.org/10.1016/j.mh...

Helping patients is the ultimate purpose of Marco Savarese’s work Research group leader Marco Savarese enjoys his work and doesn’t go to sleep unless his inbox is empty. In the future, he hopes to see greater trust in science, a positive attitude toward new discover...

“Nothing is more rewarding than seeing new lab members arrive with curiosity and uncertainty, then develop the skills, confidence and independence to lead their own projects”, says @myofinlab.bsky.social Group Leader Marco Savarese in an interview for the Loimu Magazine:
www.loimu.fi/verkkolehden...

Congratulations Ann-Louise, for successfully defending your doctoral dissertation! @helsinki.fi
🔗 Full text available here: urn.fi/URN:ISBN:978...

Another art project at work 💪🔬 @myofinlab.bsky.social @folkhalsanresearch.bsky.social

End of the year celebrations with Myofin and FHRC 💃 @myofinlab.bsky.social @folkhalsanresearch.bsky.social

Can we just take a moment to appreciate this beautiful card my students made ❤️ There's images of fluorescent myosin! Wishing "Peaceful, and super-relaxed Christmas. May your ATP-storages be full, and muscle work efficient also next year" 😄💪🔬 @myofinlab.bsky.social @folkhalsanresearch.bsky.social

Loading data... University of Helsinki Event calendar

The public examination will take place at the following address: Haartman Institute, Hall 1, Haartmaninkatu 3.
tapahtumat.helsinki.fi/en-FI/page/6...

Negar Pourjamal recently joined the Immunomics research group led by Päivi Saavalainen at Folkhälsan Research Center.

Negar Pourjamal will defend the doctoral dissertation entitled "Antibody-drug conjugates in experimental models of HER2-positive breast cancer and gastric cancer with special reference to drug resistance" in the Faculty of Medicine, University of Helsinki, on 19 December at 13:00.

Characterization of novel CASQ1 variants in two families with unusual phenotypic features - Journal of Neurology Background Variants in CASQ1, encoding a calcium-binding protein in the fast-twitch fibers of skeletal muscle, cause sarcoplasmic reticulum aberrations such as large vacuoles with CASQ1 inclusions or,...

🚨Publication alert!🚨

First author Milla’s summary of the article:

"In this study, we examined two families with dominantly inherited myopathy, presenting as exercise-intolerance, cramps and myalgia in the first family, and progressive muscle weakness in the second family.” (1/4)