Quest Discovers Genetic Blueprint with Latest Deal

Quest Diagnostics said it has acquired Blueprint Genetics in an all-cash equity transaction. Helsinki, Finland-based Blueprint Genetics has deep expertise in gene variant interpretation based on next-generation sequencing (NGS) and proprietary bioinformatics.  Additional financial terms were not disclosed.  Quest said the addition of Blueprint Genetics will help broaden access to actionable insights in genetic and rare diseases, improving patient care and pharmaceutical drug research and development. "The great challenge with genetic testing is generating quality, actionable and broadly accessible insights from vast quantities of sequenced genetic data," Steve Rusckowski, chairman, president and CEO, of Quest Diagnostics, said in a release. "Blueprint Genetics has developed a proven model for delivering highly specialized genetic insights that we believe we can scale to serve new patient populations with unmet clinical needs. The addition of Blueprint Genetics strengthens and extends the Quest value proposition in genetics, delivering on our Accelerate growth strategy and vision of a healthier world." Blueprint Genetics was founded in 2012 and provides 3,900 targeted single gene and over 200-panel tests spanning 14 medical specialties. Gene variant interpretation involves identifying associations between gene variants and disease or treatment response. The firm has increased its focus and presence in the US through a recently establ...
Source: MDDI - Category: Medical Devices Authors: Tags: IVD Source Type: news

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CONCLUSIONS: Hence, it is important to work with patients and their families to identify and strengthen adaptive and coping behaviors. That is possible only through the synergistic working of a multidisciplinary team made up of experienced doctors, psychologists, and social workers while in contact with patient Associations. PMID: 33034432 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
In this interview, she reflects on the CDER's accomplishments in the field of rare diseases and what it's like to be overseeing the therapeutics component of Operation Warp Speed amid the COVID-19 pandemic.Medscape Medical News
Source: Medscape Infectious Diseases Headlines - Category: Infectious Diseases Tags: Infectious Diseases News Source Type: news
Remarks by Stephen Hahn, MD Commissioner of Food and Drugs Dr. Hahn's Remarks to the 2020 NORD Rare Disease Summit Washington, DC Oct. 8, 2020
Source: FDA Center for Drug Evaluation and Research - What's New - Category: Drugs & Pharmacology Authors: Source Type: news
Conclusion: Our data documented drug efficacy that is satisfactory for this high-risk subset of patients with an acceptable toxicity profile. Results indicate that pixantrone could be a significant treatment option in patients with R/R aggressive DLBCL treated in everyday clinical practice.Acta Haematol
Source: Acta Haematologica - Category: Hematology Source Type: research
CONCLUSIONS: Lanadelumab is an effective but expensive long-term prophylaxis for HAE patients. A favorable side-effect profile has been shown. J Drugs Dermatol. 2020;19(10):978-983. doi:10.36849/JDD.2020.5269. PMID: 33026762 [PubMed - as supplied by publisher]
Source: Journal of Drugs in Dermatology - Category: Dermatology Tags: J Drugs Dermatol Source Type: research
houry Aggressive natural killer (NK) cell leukemia (ANKL) is a rare disease with a grave prognosis. Patients commonly present acutely with fever, constitutional symptoms, hepatosplenomegaly, and often disseminated intravascular coagulation or hemophagocytic syndrome. This acute clinical presentation and the variable pathologic and immunophenotypic features of ANKL overlap with other diagnostic entities, making it challenging to establish a timely and accurate diagnosis of ANKL. Since its original recognition in 1986, substantial progress in understanding this disease using traditional pathologic approaches has improved...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of th...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and.....
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
From blank checks to already-acquired companies, and from cancer to rare diseases, the Bay Area life sciences IPO class of 2020 is largely trading above their initial offering prices. Can you see what they have in common?
Source: bizjournals.com Health Care News Headlines - Category: Health Management Authors: Source Type: news
Authors: Facciolà A, Visalli G, D'Andrea G, Di Pietro A Abstract Tuberculosis (TB) still represents one of the most important causes of death worldwide. In Italy, TB is a relatively rare disease. This research aimed to evaluate the TB cases reported in the provincial territory of Messina, Italy, in order to assess the contribution of the different groups of the local population. We conducted a review of existing epidemiological data evaluating the trend of all TB notifications reported from 2001 to 2019. For the collection of the data, all the notifications were evaluated by analyzing the local and national ...
Source: New Microbiologica - Category: Microbiology Tags: New Microbiol Source Type: research
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