Exome Sequencing News Today

BioPharma

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.

Dublin, Jan. 25, 2024 (GLOBE NEWSWIRE) -- The

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide.

PYC has developed a new drug candidate for the >5 million people worldwide[1] with Polycystic Kidney Disease (PKD) This drug candidate hasdemonstrated efficacy in human models derived from the kidneys of patients with end-stage renal failure due to PKD[2] PKD is a life-changing disease affecting 1 in every 1,000 people[3] Half of the patient population withPKD will require a kidney transplant by the age of 60 due to the absence of impactful treatment options in this disease[4] PKD represents ...

Psoriasis -; a chronic skin condition -; is not caused or spread by spontaneous genetic mutations in the skin, new research suggests.

Incorporating RNA sequencing provides better diagnostics to enable a more complete understanding of disease biology...

Until quite recently, it was extremely difficult to detect the variants underlying many genetic disorders. In the absence of a defined cause, clinicians have little to guide treatment for those left without a genetic diagnosis, forcing patients and families to embark on a diagnostic odyssey with no guarantee of finding answers.

The genetic etiology by whole-exome sequencing (WES).

Researchers reported a proteogenomic approach to investigate fresh solid melanoma tumor material.