Event Description
Please join us in participating in the Rothmund-Thomson Syndrome Foundation Virtual 5k or Half Marathon on September 18, 2022 the choice is yours!!
All participates to sign up by August 7th will receive a free shirt and TWO free tickets to a Portland Seadogs Game for the 2023 season!
Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder that can affect people of all races and nationalities. Symptoms often first appear during infancy, usually between three and six months of age, in the form of a skin rash on the cheeks. Patients can have just a few or several features of the syndrome.
The Mission of the Rothmund-Thomson Syndrome Foundation is to foster worldwide awareness and education about RTS and related disorders and to encourage research through support of scientists and physicians devoted to studying the clinical spectrum, molecular and cellular basis of RECQL4 and related syndromes
The Rothmund-Thomson Syndrome Foundation is a 501(c)(3) nonprofit organization. It was incorporated in November, 2009 by the Kimmel Family after the loss of their daughter Victoria who had RTS. Currently, we operate with six volunteer board members who raise money to support the Foundation's goals.
RTS is characterized by the following clinical features:
A unique skin rash, that begins in infancy usually on the cheeks, and spreads to the arms and legs and persists for life. This rash is called poikiloderma, and consists of areas of increased and decreased pigmentation, prominent blood vessels, and thinning of the skin.
Sparse/absent scalp hair, eyebrows, and/or eyelashes
Small stature
Diarrhea and/or vomiting in early childhood
Bone deformities
Dental and nail abnormalities
Juvenile cataracts
Cancer: skin (usually basal cell or squamous cell carcinomas) or bone (osteosarcoma)
By joining us and collecting donation you will help us continue to promote RTS awareness to the general public, healthcare professionals, and individuals affected with RTS and their family members. Your donations and participation will also enable us to sponsor annual conferences and regional seminars, keep the patient registry going and expand research activities worldwide.
Funding for extremely rare genetic conditions is incredibly hard to come by, organizations of all sizes have had their funding impacted by COVID-19, the harsh reality of the situation is that the larger organizations are seeking out the smaller funding this year more than they have in years past making it harder and harder for our leading researcher to secure the funding needed to keep her research alive. Please consider sharing and purchasing!
