Let’s join together and care

This year we’re proud to be a part of Rare Disease Day, an annual worldwide event designed to raise awareness to both the general public and key decision makers about rare diseases and the impact that these illnesses have on the lives of patients and their families.

In the US, a disease is defined as rare when it affects less than 200,000 people, while in Europe a disease is defined as rare when it affects at any given time less than 1 in 2,000 people. To date, 6,000–8,000 rare diseases have been documented. Due to the broad spectra of symptoms, these diseases—80% of which have genetic origins—are often initially misdiagnosed, meaning that appropriate treatment is either delayed or, in some cases, unavailable.

Every day, we partner with researchers and public health authorities to identify the genetic markers for rare diseases and provide the tools used to perform research on these markers in samples derived from the human population. As a result, we are honored to participate in Rare Disease Day, and hope that the insights presented on this page will help raise awareness of these often debilitating diseases.

Rare Disease Webinar Event - Friday February 28th, 8:00 A.M. PST

Universal Newborn Screening Research for Severe Combined Immunodeficiency

Speakers: Anne Comeau, PhD,
Jelili Ojodu, MPH and Mei Baker, MD

 

A Comprehensive Array of Gene
Panels for Research Targeting Rare Inherited Diseases

Speaker: Corina Shtir, PhD

Whole Exome Sequencing in Clinical Research Using the Ion Proton™ Sequencer for Detection of Relevant Variants in Rare Disorders

Speaker: Christian Marshall, PhD

NewbornRareDiseases

Newborn Screening

Newborn screening is the practice of testing all babies for certain disorders and conditions that can hinder their normal development. Babies with these conditions appear healthy at birth but can develop serious medical problems later in infancy or childhood. Early detection and treatment can help prevent intellectual and physical disabilities as well as life-threatening illnesses.

Newborn screening usually begins with a blood test 24 to 48 hours after the baby is born. The test is performed by pricking the baby's heel to collect a few drops of blood. The blood is placed on a special piece of paper and sent to a laboratory for analysis. Parents can ask for a copy of the test results, which are sent to the baby's doctor or clinic.

BabyShoesRareDiseases

Severe Combined Immunodeficiency

Severe combined immunodeficiency (SCID) is the term for a group of diseases that have genetic origins and can be treated or cured if detected soon after birth. Often called the “bubble boy disease,” the general public came to know SCID in 1976 through the movie The Boy in the Plastic Bubble, which was inspired by the lives of David Vetter and Ted DeVita, both of whom suffered from SCID. There are several forms of SCID—the most common is linked to the X chromosome, and only affects males. Other forms follow an autosomal recessive inheritance or are caused by spontaneous mutations.

For Research Use Only.  Not for use in diagnostic procedures.