"It is not the critic who counts, not the one who points out how the strong man stumbled or how the doer of deeds might have done them better. The credit belongs to the man who is actually in the arena, whose face is marred with sweat and dust and blood; who strives valiantly; who errs and comes short again and again; who knows the great enthusiasms, the great devotions, and spends himself in a worthy cause; who, if he wins, knows the triumph of high achievement; and who, if he fails, at least fails while daring greatly, so that his place shall never be with those cold and timid souls who know neither victory nor defeat."
Roosevelt

Wednesday, April 11, 2012

Harvard Genetic study



Has anyone else participated in a genetic study for FSGS?  At the end of my doctor appointment on Tuesday my Doctor mentioned contacting Dr. Martin Pollak who is conducting a study through Harvard.  I have copied and inserted the letter below as I am not sure any of you would be interested in participating in this study.  I have to admit I am slightly nervous as I am really hoping that Bridget does not have or get this terrible disease.  Has anyone else had the child or children screened or monitored to see if they contract this?

Dear Potential Research Participant,

We are currently running a research project on FSGS (focal segmental glomerular sclerosis) and other causes of nephrotic syndrome, kidney failure, and proteinuria at the Beth Israel Deaconess Medical Center/Harvard Institutes of Medicine in Boston, Massachusetts. The doctor in charge of this study is Dr. Martin Pollak.

The goal of this study is to learn more about the cause of kidney disease in individuals and in families by studying genetics. Genes (also known as DNA) are the instructions for your body to carry out its functions. We think that if we can learn more about why and how people are predisposed to kidney disease (or protected from it), then the information we learn may aid in the discovery of better treatments in the future. So far, we have identified changes in three genes, ACTN4, INF2, and APOL1 that account for kidney disease in patients and families. We are now trying to find other FSGS genes and understand exactly how defects in already known FSGS genes lead to kidney disease.

Who is eligible to participate?
You do not have to live in Boston to participate. Participants of all ages are welcome to participate (including children). Particularly we are looking for:
  • 2 or more individuals in a family with FSGS -or-
  • Individuals or families in which only 1 person has FSGS -or-
  • Individuals or families with nephrotic syndrome, kidney failure, or unexplained proteinuria
What do I have to do?
Participation involves a saliva sample, a urine sample (in some cases), and filling out a consent form and questionnaire. To participate, call or email Andrea Uscinski Knob, MS with your address and personal/family history. We will mail you a package with instructions and everything you need to participate. You do not need to make a separate doctor’s appointment and can participate from home. There is no cost to participate in the study and we will include prepaid return envelopes for returning the samples. In most cases, participation is a one time thing. However, we may ask for a repeat sample to confirm a finding or if there is not enough saliva in the saliva kit.

If you are interested in participating or have any questions in regards to the study, please contact Andrea Uscinski Knob, MS genetic counselor at 617-667-0467 or by email at aknob@bidmc.harvard.edu or Dr. Martin Pollak, MD, principal investigator, at 617-667-0496.

Thank you,

Andrea Uscinski Knob, MS
Martin Pollak, MD


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