Cystinosis Research Foundation (CRF) June 2015 Starfacts

Cystinosis Research Foundation Starfacts June 2015


March 3-4, 2016 – Arnold and Mabel Beckman Center of the National Academies of Science and Engineering in Irvine, California – The fifth biennial CRF sponsored cystinosis research symposium is the only global research symposium for cystinosis researchers. It will be led by co-chairs, Corinne Antignac, MD, PhD, Stéphanie Cherqui, PhD and Julie Ingelfinger, MD. The keynote speaker will be Harold M. Hoffman, MD from UCSD who will speak on inflammasome and its association with inflammation and diseases. The invitation only conference will bring together CRF funded researchers who are working on new treatments and a cure for cystinosis. For information contact Nancy Stack.


CRF Day of Hope Family ConferenceIsland Hotel, Newport Beach, CA – Thursday, April 7 to Saturday, April 9, 2016  New Venue * New Programs * New Friendships * New Research – Mark your calendars and make your plans to join us for a weekend of hope and inspiration at our new venue, the Island Hotel, Newport Beach. Cystinosis families from around the globe will learn about the research progress from CRF’s top cystinosis researchers and have the opportunity to renew friendships and greet new families from the cystinosis community. For information email Nancy Stack.


Fore a Cure 2015Pelican Hill Golf Course, Newport Beach – Monday, October 19, 2015  Celebrating its eighth year, theNatalie’s Wish Fore a Cure Golf Tournament is moving to a new venue, the world-class Pelican Hill Golf Course. Rated one of the top golf tournaments in Orange County, the event is attended by top business leaders and golf enthusiasts and is always sold out. Don’t miss your opportunity to participate and sign up early! For sponsorship information call Zoe Solsby (949) 223-7610 or email,


CCIR LogoAttention all cystinosis patients and families! The NEW & IMPROVED cystinosis survey is ready to complete! There is always room for improvement and cystinosis experts felt that additional CCIR survey questions could help address gaps in our knowledge about the disease. This knowledge will be instrumental in propelling cystinosis research forward. Will you please take a moment today to page through the improved survey Login to your account as usual and you will notice that answers you provided to existing or unmodified questions are still recorded in the system so you do not have to start from scratch. Just check that the answer options you marked are still accurate today and update your response only if necessary. Also provide answers to the new or modified questions. Thank you for being part of the cure! Contact the Curator should you have questions or require assistance.

Panel recommends improvements in estrogen testing accuracy

Unreliable estrogen measurements have had a negative impact on the treatment of and research into many hormone-related cancers and chronic conditions. To improve patient care, a panel of medical experts has called for accurate, standardized estrogen testing methods in a statement published in the Endocrine Society’s Journal of Clinical Endocrinology & Metabolism (JCEM).

The panel’s recommendations are the first to address how improved testing methods can affect clinical care, and were developed based on discussions at an estrogen measurement workshop hosted by the Endocrine Society, AACC and the Partnership for Accurate Testing of Hormones (PATH).

Estrogen is primarily produced in the ovaries and is also produced in small amounts by the adrenal glands, which is why men as well as women have estrogen in their bodies. It is critical for fertility in women, and also plays a role in many health conditions, from precocious puberty to cancers of the breast, ovary, prostate and liver. Accurate blood tests for estrogen are necessary to diagnose patients with these conditions and ensure they receive appropriate, effective treatment. Many medical studies also rely on estrogen tests, such as research assessing the connection between estrogen levels and the risk of breast or prostate cancer.

“Accurate data on patients’ estrogen levels are needed to ensure appropriate and effective patient care, reduce the need for retesting, and enable clinicians to implement the latest research in patient care,” said one of the authors and co-chair of the PATH Steering Committee, Hubert Vesper, PhD. “Research studies, however, found high inaccuracies among different estrogen tests, especially when the test is measuring low estrogen levels in postmenopausal women, men and children.”

The expert panel called for improving the accuracy of measurements through standardization, and recommended clinicians, researchers and public health officials support standardization programs like CDC’s and other efforts to ensure estrogen measurement is accurate and consistent.

The panel also advised clinicians and researchers to consider the purpose of the test when selecting an estrogen measurement method. Clinicians and researchers currently use several methods to measure estrogen, including mass spectrometry and immunoassays. The experts agreed both methods are valid, but that one may be more effective than the other depending on the situation. For instance, mass spectrometry–the more expensive, but also more sensitive testing method–may be appropriate in people who tend to have low estrogen levels, including postmenopausal women and children beginning puberty.

Additionally, the experts recommended that medical journals require authors to fully explain the estrogen measurement testing methods used in studies. Ensuring researchers explain the processes they used will help the field move toward standardized methods.

In addition to Vesper, other authors of the study include: L.M. Demers of Pennsylvania State University School of Medicine in Hershey, PA; S.E. Hankinson of the University of Massachusetts in Amherst, MA; S. Haymond of the Ann and Robert H. Lurie Children’s Hospital of Chicago, IL; T. Key of the University of Oxford in Oxford, U.K.; W. Rosner of Columbia University in New York, NY; R.J. Santen of the University of Virginia Health Sciences System in Charlottesville, VA; F.Z. Stanczyk of the University of Southern California Keck School of Medicine in Los Angeles, CA; and R.G. Ziegler of the National Cancer Institute in Bethesda, MD.

The manuscript, “Measuring Estrogen Exposure and Metabolism: Workshop Recommendations on Clinical Issues,” will be published in the June print issue of JCEM.

Founded in 1916, the Endocrine Society is the world’s oldest, largest and most active organization devoted to research on hormones and the clinical practice of endocrinology. Today, the Endocrine Society’s membership consists of over 18,000 scientists, physicians, educators, nurses and students in 122 countries. Society members represent all basic, applied and clinical interests in endocrinology. The Endocrine Society is based in Washington, DC. To learn more about the Society and the field of endocrinology, visit our site at Follow us on Twitter at!/EndoMedia.

Dedicated to achieving better health through laboratory medicine, AACC brings together more than 50,000 clinical laboratory professionals, physicians, research scientists, and business leaders from around the world focused on clinical chemistry, molecular diagnostics, mass spectrometry, translational medicine, lab management, and other areas of progressing laboratory science. Since 1948, AACC has worked to advance the common interests of the field, providing programs that advance scientific collaboration, knowledge, expertise, and innovation. For more information, visit


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Justine Greening: One year on from Ebola reaching Sierra Leone

A statement from the International Development Secretary, 12 months on from the first confirmed Ebola case in the country.

Development Secretary Justine Greening said:

“A year ago today it was confirmed that the deadly Ebola virus had reached Sierra Leone. In the months that followed this terrible disease swept across the country claiming thousands of lives, devastating communities and temporarily crippling the economy.

“The UK can be immensely proud of its life saving work leading the international humanitarian response in Sierra Leone. Working hand in hand with the government of Sierra Leone and its people, we have supported them through every step of this disease — setting up labs to quickly diagnose Ebola, raising awareness about how the disease is spread, building treatment centres, training frontline health workers, and funding teams to provide safe and dignified burials. The number of cases has now fallen from a peak of over 500 a week in November to just 8 last week. We won’t have won this battle until we get to zero infections and stamp out Ebola. We will continue to work with Sierra Leone’s government and local communities to seek out and isolate every new case.

“There is no room for complacency, but we hope that the end is in sight. The UK will continue to stand by Sierra Leone until the job is done but it is vital that others now join us to help Sierra Leone get back on its feet. UK support will help get health and education services up and running, kick start the economy and protect the people most affected by the disease — including the children who lost their families. We cannot wipe out the suffering this disease has inflicted but we can help to build a stronger, more prosperous Sierra Leone that is better prepared to tackle disease outbreaks in the future.”