FDNA Partners with Blueprint Genetics to Spotlight RASopathies During the Year of Discovery

FDNA

Mar 15, 2017, 03:00 ET

Boston, MA (PRWEB) March 15, 2017 — “FDNA launched the Year of Discovery on February 28th, 2017 to unite clinicians, labs and patients for rare disease advancements. March, the first month of the initiative, spotlights developmental syndromes classified as RASopathies, with support from Blueprint Genetics, a genetic knowledge company using Next-Generation Sequencing for clinical genetic diagnostics.

Clinicians and patients are encouraged to get involved to help advance understanding of syndromes in this category. As an incentive to get involved, Blueprint Genetics will donate $1* to the Noonan Syndrome Foundation for every case uploaded in March to FDNA’s free application designed for healthcare professionals, Face2Gene. The Noonan Syndrome Foundation seeks to support, educate, and advocate for those with a RASopathy condition known as Noonan Syndrome.”

Related articles

Genetic Research in Africa: An Interview

Genetic Research in Africa: An Interview with Dr. Aime Lumaka

Dr. Aime Lumaka, a distinguished geneticist from the Democratic Republic of Congo, is at the forefront of advancing genetic research across Africa. As a pivotal figure in the Deciphering Developmental Disorders in Africa (DDD-Africa) initiative and the Principal Investigator of the African Rare Diseases Initiative (ARDI), Dr Lumaka is leading efforts to evaluate clinical exome sequencing in […]

Continue reading
Pioneering Rare Disease Diagnosis in Italy with AI-Powered Innovations, in Dermatology and Genetics

Pioneering Rare Disease Diagnosis in Italy with AI-Powered Innovations, in Dermatology and Genetics

In a recent landmark scientific webinar trailblazing development in dermatological phenotyping, genetic disorders, and the transformative application of artificial intelligence (AI) in rare disease diagnostics in Italy were explored. The event convened leading experts, researchers, and clinicians, who unveiled their experience in the clinic, including the innovative use of an AI-powered called Face2Gene to significantly […]

Continue reading