News

Article about the life science and health technology innovations and the growth of the healthcare industry in Finland on Kauppalehti Optio, a Finnish business magazine. To read the whole article (available in Finnish only), click here.   Blueprint Genetics yhdessä muiden life science ja terveysalanyritysten kanssa viemässä huipputason terveysteknologiaa…

Read the IBM Case study how Blueprint Genetics uses IBM Watson cognitive analytics to speed up the genetic data interpretation and to expand the product offering. “By eliminating one of the biggest operational bottlenecks, we have been able to achieve our goal of transforming our business from…

Sequencing is still one of the major steps where genetic diagnostics can go wrong. Despite all the breakthroughs during the past decade, the sequencing technologies available are still providing results that are far from perfect. The limitations of sequencing technologies are still one hurdle in applying genomics to everyday medicine.

In recent decades, genetic testing has helped bring a diagnosis to millions of people with inherited diseases and their affected family members. With a conclusive genetic diagnosis, clinicians can start the right course of treatment for their patients, or recommend the necessary lifestyle changes to ensure their patients live…

Blueprint Genetics has been chosen as one of the top 20 most promising growth companies in 2016 by Talouselämä. Talouselämä, a Finnish weekly financial and business magazine, has chosen the most promising start-up companies in Finland for the fifth year in a row. The jury judged the growth and internationalization possibilities…

Blueprint Genetics is now an ISO 15189 standard accredited No. T292 laboratory. Accreditation is a procedure to recognize an organization’s competence to carry out specific tasks based on internationally agreed criteria. The quality management system at Blueprint Genetics complies with the international ISO 15189 standard, which specifies the quality requirements for medical…

As a continuation to Blueprint Genetics recent collaborative studies on genetics of dilated cardiomyopathy (DCM) (Eur Heart J 2015 and PlosOne 2015), we performed meta-analysis of truncating titin variants in DCM. Others and we have previously estimated TTN truncating variants (TTNtv) – nonsense, frameshift and consensus splice site, to be responsible for…

As a continuation to Blueprint Genetics recent collaborative study on genetics of dilated cardiomyopathy (Eur Heart J 2015), we were enthusiastic to further evaluate variation of titin gene in large reference populations. This is an important step towards a better understanding of the titin truncations in cardiomyopathies. Earlier studies have…

“After establishing an office in the USA, business is set to grow tenfold for this genetic testing company in the near future. The road to success for startups is one that is typically paved with various twists and turns. Whilst a company may start out with an original idea, in…

Genetic basis of pulmonary arterial hypertension (PAH) is well recognised but still rarely utilized in diagnostics setting. Diagnostic yield of comprehensive multi-gene panels in PAH is relatively unknown as current knowledge is gathered from studies evaluating only one gene at a time in a heterogenous patient populations.  Finnish PAH…

To explore the underlying genetic defects of dilated cardiomyopathy (DCM) we applied OS-Seq technology as a novel comprehensive diagnostic tool. Despite our increasing understanding of the genetics of DCM the genetic basis of the disease is still poorly understood. We were able to identify pathogenic variants in 47.6% of the…

Sequencing of channelopathy genes with the BpG Arrhythmia Panel revealed a de novo mutation in the CACNA1C gene in an adolescent with ventricular fibrillation but normal development, consequently not only expanding the phenotype of Timothy Syndrome Type 2 but also demonstrating the power of large gene panels. The standard has been to select specific gene tests for patients with established…

We have a tradition of naming our sequencing machines after famous robots. Our latest system is called Sampo. In the Finnish national epoch compiled by Elias Lönnrot, Kalevala, Sampo is described as a refiner engine that brought prosperity to its owner. Pretty witty, huh? Currently, we are using Illumina’s MiSeqs…

The 2015 Annual Clinical Genetics Meeting (ACMG) marks an important milestone for us at Blueprint Genetics, one of the leading laboratories in cardiovascular genetics. At this meeting we’re excited to announce our new and improved service model, plus our upcoming sales launch in the US. We’re opening new facilities…

Blueprint Genetics launches new genetic diagnostic tests for Becker and Duchenne muscular dystrophies and an updated panel for Emery-Dreifuss muscular dystrophy with the addition of titin (TTN) gene. In line with our other diagnostic panels, we target the sequencing to all protein coding exons, exon-intron boundaries and other regions with…

Helsinki, Finland – August 29, 2014 – Blueprint Genetics is glad to announce that Inventure and Avohoidon Tutkimussäätiö, a Finnish foundation, have joined the existing investors of the company. Previously, the company has been financed by Finnish business angels and Tekes, the Finnish Funding Agency for Innovation. The funding for Blueprint Genetics now totals…

Blueprint Genetics is glad to announce that Inventure and Avohoidon Tutkimussäätiö, a Finnish foundation, have joined the existing investors of the company. Previously, the company has been financed by Finnish business angels and Tekes, the Finnish Funding Agency for Innovation. The funding for Blueprint Genetics now totals $3.9 million, allowing the company to accelerate…

Blueprint Genetics launches new genetic diagnostic tests for Becker and Duchenne muscular dystrophies and an updated panel for Emery-Dreifuss muscular dystrophy with the addition of titin (TTN) gene. In line with our other diagnostic panels, we target the sequencing to all protein coding exons, exon-intron boundaries and other regions with…

In 2013 Blueprint Genetics launched 14 comprehensive diagnostic NGS panels for hereditary cardiovascular diseases and certain neurological disorders. As previously, our service with inclusive clinical statements and interpretations has been continuing to receive excellent feedback from our customers. The number of ordering hospitals has been increasing and to date physicians…

We are happy to announce that Blueprint Genetics has been accepted into the NIY program of Tekes (The Finnish National Technology Agency). The program has two phases that enables us to withdraw up to one million euros in subvention when challenging objectives are met. The idea of…