Rare Disease Day is less than a week away

Liz Brown
For Liz Brown (left), being adopted meant that she always had questions about her health history. A diagnosis provided an answer to a lifelong question and gave Liz control of her family’s health and future. Hear her story.

On February 28th, the rare disease community comes together to raise awareness of the impact of rare diseases on millions. For the 30 million people experiencing a rare disease, life can be filled with questions. Identifying possible symptoms of a rare disease often sparks a “diagnostic odyssey” that can stretch over many years. Fortunately, as knowledge about the genetics behind many of these diseases has grown, genetic testing has helped dramatically shorten the search for answers, connecting patients more quickly to the care they need. Hear their stories here.

Invitae is proud to support the rare disease community. Through our research efforts, our support for the National Organization for Rare Disorders (NORD), and our work with advocacy organizations supporting patients experiencing a number of rare disorders, we’re working to help advance the science and practice of genetic medicine in rare diseases.

We believe genetic testing can play a central role in shortening the diagnostic odyssey. Early diagnosis can transform care especially in disorders affecting children. Invitae recently launched the Behind the SeizureTM program in partnership with BioMarin, a global biotechnology company specializing in rare and ultra-rare diseases, to promote early genetic testing in epilepsy.

The Behind the Seizure program provides no-charge epilepsy panel testing to patients that meet certain criteria. In addition to aiding in an accurate and early diagnosis, understanding genetic variants has important implications for clinical management, including recommendations for:

  • appropriate antiepileptic medications
  • targeted therapies that may be effective in select cases
  • other interventions such as modified diets

Early genetic information may also help patients and their providers with prognosis and identify opportunities and eligibility for clinical trial participation, while providing information on risk of disease for other family members.

If you have any questions about Invitae’s partnerships and programs in rare disease or our commitment to improving the quality of healthcare while lowering its cost for the rare disease community, please don’t hesitate to contact our team at genetics@invitae.com.