Blog
In her latest blog, Clinical Liaison Julie Hathaway highlights the ongoing collaborative efforts that are shedding light on genes of uncertain significance.
Research
The role of the JPH2 gene in cardiomyopathies has been obscure as only one rare variant segregating with any type of cardiomyopathy has been published (Sabater-Molina M et al., Clin Genet. 2016). This study characterizes the cardiac phenotype related to JPH2 c.482C>A, p.(Thr161Lys) variant in nine Finnish index patients and their family members.
Blueprint Academy
How does in-depth understanding of difficult-to-sequence regions enable improved patient outcomes? This educational webinar provides participants insight to the most recent advancements in the area of difficult-to-sequence regions and especially, improved diagnostics of X-linked retinitis pigmentosa and spinal muscular atrophy. In this webinar, we will share our approach of customized bioinformatic and sequencing solutions.
White paper
This whitepaper is about opening the black box of difficult-to-sequence genes, customized sequencing solutions, and what are the next areas of interest in our R&D pipeline.
We are passionate about changing peoples’ lives through development of groundbreaking solutions that take genetic diagnostics from niche to mainstream – to the benefit of patients with rare inherited diseases worldwide. On this video, our team members share what makes their work rewarding, fulfilling and enjoyable.
When should you consider WES for your patient?
“Patients with early onset, multiorgan involvement are more likely to have a genetic cause for their symptoms and therefore are more likely to receive a diagnosis through WES”, says Kim Gall, Clinical Liaison at Blueprint Genetics.
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