Research Projects
Porphyria is a group of eight inherited genetic disorders that arise when the body is unable to synthesize heme used to transport oxygen throughout the body. This negatively affects the skin and/or nervous system causing symptoms including extreme abdominal and chest pain, skin blistering, vomiting, confusion, constipation, fever, high blood pressure, and possibly leading to paralysis, low blood sodium levels, and seizures.
Only a small number of people with the genetic mutations related to porphyria will ever develop symptoms. However, those who do can have serious health problems. We are trying to better understand why some people have symptoms and some never do. To do this we need both people with and without symptoms. You may qualify to contribute to an important new research study to help understand other genes that might contribute to symptoms or help protect people from symptoms. Please click this link to find out more about the study.
Only a small number of people with the genetic mutations related to porphyria will ever develop symptoms. However, those who do can have serious health problems. We are trying to better understand why some people have symptoms and some never do. To do this we need both people with and without symptoms. You may qualify to contribute to an important new research study to help understand other genes that might contribute to symptoms or help protect people from symptoms. Please click this link to find out more about the study.
Have you performed consumer genomics testing such as 23&me or ancestry.com? Do you have the RAW data for this testing? If so, you can help.