RESEARCH INITIATIVES (ALL)

* Dystonia (DYT1 and other types)

research participants wanted NEWThere are ongoing research studies for dystonia at Mount Sinai Beth Israel.  If you have dystonia and there are two or more family members with the condition please email movewell@chpnet.org for more information about how to participate.  Participation involves filling out paperwork, having a neurological exam, and giving a blood sample.

 

* Adult Polyglucosan Body Disease (APBD)

research participants wanted NEWA Patient Registry exists, and a Natural History Study is being conducted through APBDRF and head by Dr Salvatore DiMauro at the Mailman School of Public Health at Columbia University:

http://www.sac-cu2.org/APBD/

  • APBD is a rare disease and there is much more to learn about the disease
  • Natural History Studies are integral!
    • We need to better define the range of disease sypmtoms and severity among patients as well as the differences in rate of progression
    • This information will be used to define clinical measurements that would be helpful in testing potential therapies in clinical trials
    *BRCA in the Jewish Community

    The genetics team at Montefiore Medical Center is now offering BRCA mutation testing at a subsidized rate for interested individuals as par of a research initiative.

    brochure

    If you:

    • are at least 25 years old,
    • have one or more Ashkenazi Jewish grandparent(s) and,
    • have not already had BRCA testing

    then you are eligible to participate and can pursue BRCA mutation testing through this initiative.

    To participate in the BRCAcommunity research study, and to think about testing for the Ashkenazi Jewish founder mutations in the BRCA genes, please visit the study website for more information.

      *Parkinson’s Disease

      research participants wanted NEW

      Mt sinai beth Israel logo

      There are multiple ongoing research studies for Parkinson’s disease at Mount Sinai Beth Israel.  If you have Parkinson’s disease or dystonia and there are two or more family members with the condition or if you are a glucocerebrosidase mutation carrier (Gaucher) or LRRK2 mutation carrier, and are interested in research, please contact 212-844-8579 and leave a message, or email movewell@chpnet.org.

      The Alan and Barbara Mirken Department of Neurology Center for Movement Disorders at Mount Sinai is a comprehensive center for the treatment of Parkinson disease, essential tremor, dystonia, ataxia and chorea.  It is a National Parkinson Foundation Center of Excellence, and a Bachmann-Strauss Dystonia and Parkinson Foundation Center of Excellence.

      PPMI biomarker logoIncreased understanding of Parkinson’s disease genetics offers the possibility for the development of improved treatments for those living with Parkinson’s. Individuals of Eastern European (Ashkenazi) Jewish descent are more likely than the general population to carry a mutation in the LRRK2 gene, the single most common genetic contributor to Parkinson’s. Identifying and evaluating people who carry a LRRK2 mutation, whether they have Parkinson’s disease or not, can be extremely valuable to discovering new treatments for the disease.

      The Parkinson’s Progression Markers Initiative (PPMI) is a landmark clinical study sponsored by The Michael J. Fox Foundation to better understand the progression of and risk factors for Parkinson’s disease.

      PPMI provides genetic counseling and testing for the LRRK2 gene at no cost to individuals of Eastern European (Ashkenazi) Jewish descent who:

      • Do not have PD, are over 50 years old and are related to someone who has PD
      • Have had PD for any length of time and are of any age

      To learn more visit, https://www.michaeljfox.org/page.html?ppmi-genetics, or see the following brochure.

       

      *Delaying Aging

      research participants wanted NEW

      To participate in Dr. Nir Barzilai’s research study to uncover genetic and environmental factors which contribute to the longevity, please visit the Longevity Genes Project for more information.

       


      *Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis 

      research participants wanted NEW

      To participate in Dr. Judy Cho’s research study regarding genetic and environmental factors which contribute to the development of IBD, please email ibd@yale.edu. You can also visit http://Ibd.yale.edu or www.facebook.com/YaleIBD for more information.

      The Crohn’s & Colitis Foundation of America (CCFA) supports several major ongoing research initiatives and clinical studies to encourage cooperative efforts among investigators, research centers, and other resources. Visit http://www.ccfa.org/research to learn more about these current studies and how to participate in research.

       


      *Hereditary Breast and Ovarian Cancer

      Survey

      Follow this link to participate in an optional online survey researching the desire for BRCA testing in the Jewish community. The survey is anonymous, open to both men and women, and will take around 5 minutes to complete.

Disclaimer

These lessons and videos are produced for MyJewishGeneticHealth.com by the Program for Jewish Genetic Health in conjunction with other organizations and expert lecturers. They are meant to educate the general public about genetic diseases, and they reflect information as of the date of production. They are not meant to be a replacement for professional medical care, nor should the information be used to diagnose or treat medical conditions. Note that our videos also can be posted in the public domain, and therefore disclosure of personal information about yourself and others in a ‘Comments’ section can and will be seen by others.