What You Should Know:
– PatientsLikeMe and SEQSTER announced a collaboration to launch one of the first rare-disease studies focused on Alpha-1 Antitrypsin Deficiency (AATD) – a rare genetic condition occurring in approximately 1/3500 people.
– AATD is a rare genetic condition occurring in approximately 1/3500 people. It is characterized by low levels of the alpha-1 antitrypsin protein, leading AATD patients to be very susceptible to lung and/or liver disease. Although AATD can be diagnosed through genetic testing or through AATD serum level, many cases of AATD are undiagnosed, with some studies suggesting up to 90% of patients may be undiagnosed or misdiagnosed.
– Participants living with AATD now can consent, share, and engage with all of their data in one place, leading to a seamless longitudinal patient journey.
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Source: Hitconsultant
