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ABOUT THE SDS REGISTRY

Mission

Our Mission

The Shwachman-Diamond Syndrome Registry (SDSR) is dedicated to accelerating research and treatment for SDS to improve survival and quality of life for all patients with SDS and SDS-like conditions. The ultimate goal is to cure SDS. 

How to Join the
Shwachman-Diamond Syndrome Registry

1

Contact the SDSR Team

If you are interested in enrolling your child or yourself in the Shwachman-Diamond Syndrome Registry (SDSR), please contact us by using the form below, calling 617-919-1574, or emailing SDSRegistry-dl@childrens.harvard.edu.

2

Meet with a SDSR Team Member

We ask that you meet with a member on our team to review the consent form either over the phone or by Zoom. This call is short, and we can work around your busy schedule!

3

Sign the Consent Form

After meeting with a member on our team, the consent form can be signed and sent back to our team via our electronic system. No printing, scanning, or mailing necessary.

Join the Registry

If you are interested in enrolling yourself and/or your child in the SDSR, please fill out this form so we can contact you or click here to contact us directly.

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Thank you for submitting!

Join the Registry

Participate in the Shwachman-Diamond Syndrome Registry

1.

Medical Release Form

We do the work for you! A Release of Medical Records form is required annually for you to share copies of your medical records with the SDSR. The records requested by the SDSR include clinic notes, notes from hospitalizations, laboratory results, radiology studies, and pathology reports from your primary care physician and any specialists you see for your care. To protect the confidentiality of your medical records the SDSR study staff will assign a unique study code to each participant. This coded information will be entered into a secure computer database.

2.

Biological Samples

The Registry would like samples of your blood and/or bone marrow when obtained as part of routine clinical care. No extra procedures are ever required. Please contact the SDSR regarding these samples 1 month prior to your scheduled clinic visit and we will send you all of the materials needed.

3.

Sharing Your Experience 

After your consent is complete, we ask that you keep the SDSR informed of significant changes in your health.

The SDSR will periodically send voluntary questionnaires to learn more about SDS.

Registry Participation

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Our Centers

Based out of Boston Children's Hospital, Dana-Farber Cancer Institute and Cincinnati Children's Hospital Medical Center, the SDSR is dedicated to sharing advances in research and clinical care with patients, families and health care professionals.

Meet the SDS Registry Team

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Dr. Akiko Shimamura, MD, PhD 

Director

Dr. Shimamura founded and directs the SDS Registry. She is Professor of Pediatrics at Harvard Medical School and Director of the Bone Marrow Failure and MDS Program of the Dana Farber/Boston Children's Cancer and Blood Disorders Center.  Dr. Shimamura provides clinical care and consultation for patients with SDS and other bone marrow failure conditions, and cares for patients with genetic predisposition to MDS/leukemia.  She conducts clinical and laboratory research to improve diagnosis and treatment for these conditions.

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Dr. Kasiani Myers, MD

Co-Director

Dr. Myers co-directs the SDS registry. She is an Associate Professor of Pediatrics at the University of Cincinnati and Cincinnati Children's Hospital Medical Center and Director of the Hematopoetic Stem Cell Transplant Late effects and Survivorship Program. Dr. Myers focuses her research and clinical efforts on SDS and other bone marrow failure disorders, and late effects of bone marrow transplant.

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Sara Loveless, RN, BSN, BMTCN

Research Nurse III and BMT Research Team Lead, Cincinnati Children's Hospital Medical Center

Sara has been a Bone Marrow Transplant nurse for over 25 years and has been with the SDS Registry at CCHMC since 2012. Sara loves continuing to learn about SDS and helping the patients and families affected by this condition.

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Christopher Reilly, MD

Adult Hematologist/Oncologist

Dr. Reilly is an adult hematologist/oncologist at the Dana-Farber Cancer Institute with expertise in inherited blood disorders and leukemia predisposition. Through a close collaboration with pediatric colleagues, we have established a clinical infrastructure to facilitate a seamless transition from pediatric to adult care for our patients. The care of SDS patients is complex, and Dr. Reilly works closely with other subspeciality physicians to provide comprehensive care for patients. In the lab, he is focused on understanding how inherited gene variants influence the development of bone marrow failure and risk of leukemia.

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Jane Koo, MD

Pediatric Hematologist/Oncologist, Cincinnati Children's Hospital Medical Center

Dr. Koo is a pediatric bone marrow transplant specialist at Cincinnati Children's Hospital Medical Center. She joined the SDS Registry team in 2022. Dr. Koo concentrates her clinical care and research efforts on patients with SDS and other bone marrow failure disorders in addition to acute and late complications following bone marrow transplant.

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Helen Reed, MD, MPH

Clinical Fellow in Pediatric Hematology/Oncology, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center

Dr. Reed is a clinical fellow in pediatric hematology/oncology at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and has a background in cancer epidemiology. She began working with Dr. Shimamura and the SDS Registry team in 2022. Her research is focused on the clinical outcomes and cancer risk among patients with inherited bone marrow failure syndromes, including SDS.

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Karyn Brundige, MSN, CPNP

Pediatric Nurse Practitioner, Bone Marrow Failure Treatment Center, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center

Karyn is a nurse practitioner with 30 years of experience caring for people with blood disorders. She first worked with Dr. Shimamura in Seattle, and was excited to join Dr. Shimamura and the Bone Marrow Failure Program at Boston Children’s Hospital in 2016. Karyn is passionate about educating nurses about bone marrow failure conditions. She enjoys connecting with patients and families, and providing education and support to promote health and participation in healthcare decisions.

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Leah Cheng, M.A., CCRP

Clinical Research Manager, Boston Children's Hospital

Leah is a Clinical Research Manager with the Clinical Research Operations Center at Boston Children’s Hospital. Starting in 2017, she began working with Dr. Shimamura coordinating the SDS Registry and since then has also become involved in other bone marrow failure registries and interventional trials as well. Leah very much enjoys working with both the SDS Registry patients and the research team.

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Richard Cooper

Research Coordinator II, Cincinnati Children's Hospital Medical Center

Richard graduated from University of Kentucky with a Bachelors in Public Health and enjoys interacting with families when they come in for follow-up.

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Lois Schwarz, BA

Clinical Research Assistant, Boston Children's Hospital

Lois graduated from Wesleyan University having received BA degrees in both Psychology and Neuroscience & Behavior. She is passionate about and interested in pursuing a career in medicine and research. She has experience working in hematology and oncology research in adults and is excited to work with children. As a clinical research assistant she works with both the Bone Marrow Failure and Shwachman-Diamond Syndrome teams on research projects and initiatives. In her spare time, she loves to read, play basketball, and spend time with friends.

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Diana Schwarz, BA

Clinical Research Assistant, Boston Children's Hospital

Diana is a recent graduate of Wesleyan University where she received a BA in Neuroscience & Behavior and Psychology and participated as a student athlete on the field hockey team. She works as a Clinical Research Assistant on the bone marrow failure team where she facilitates patient communication with the SDS Registry and other ongoing studies. Diana is passionate about engaging in cutting-edge medical research, working alongside medical experts in the field, and striving to improve the overall well-being of individuals and families impacted by bone marrow failure.

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Ali O’Conner, BSN, RN, OCN 

Bone Marrow Failure Care Manager, Cincinnati Children's Hospital Medical Center

Ali has worked in bone marrow transplant from an inpatient and outpatient bedside nurse to Ali's current role as a care manager. Ali enjoys learning about SDS and assisting patients and families in learning more about SDS.

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Erica Miller, RN II, BSN, CPN

Outpatient Care Manager, Bone Marrow Failure Syndromes, Cincinnati Children's Hospital Medical Center

Erica has been an outpatient nurse Care Manager at Cincinnati Children’s working with Bone Marrow Failure syndromes since 2011. Erica has been with the SDS Registry since 2012, and enjoys caring for patients and families, and appreciates the resource that the SDS Registry continues to be.

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Felicia Andresen, MD

Postdoctoral Research Fellow, Shimamura Laboratory, Department of Hematology/Oncology,
Boston Children’s Hospital

Dr. Andresen joined the laboratory of Dr. Shimamura as a postdoctoral fellow in 2022. Before that, she worked as a pediatrician in the Department of Pediatric Hematology and Oncology at the University Medical Center Freiburg, Germany. During this time, Dr. Andresen's work centered around leukemia predisposition syndromes and pediatric myelodysplastic syndromes. Currently, her research is focused on deciphering the role of clonal hematopoiesis in inherited bone marrow failure syndromes.

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Chad Harris, BS, MS

Lab Manager, Shimamura Laboratory, Department of Hematology/Oncology,
Boston Children’s Hospital

Chad received his BS then MS in Biology/Genetics and Molecular Biology respectively from Ball State University. He is currently the chair of the Laboratory Safety Group (LSG) of the hospital, and is a member of the Institutional Biosafety Committee as well as the Gene and cell therapy scientific review committee.

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Elizabeth Korn, BA

Clinical Research Assistant, Boston Children's Hospital

Elizabeth is a graduate of Brandeis University with a BS in Biology and Public Health as well as being a member of the university’s track and field team. She is currently a Clinical Research Assistant where she supports research efforts, facilitates patient interactions, and contributes to the SDS Registry and other related studies. Elizabeth is committed to enhancing patient care, increasing access to medical care for rare diseases, and making meaningful contributions to scientific research.

Team

SDS Registry Team Alumni

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Greta Joos, BS

Clinical Research Assistant, Boston Children's Hospital

Greta was a Clinical Research Assistant at Boston Children's. She joined the team in May 2021 after graduating from Duke University with a Bachelor of Science degree in Biology. She worked on the SDS Registry as well as on a variety of other bone marrow failure projects. Greta enjoyed connecting with patients and families. Greta now attends medical school at the University of Vermont.

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Ian Atkinson, BA

Clinical Research Assistant, Boston Children's Hospital

Ian is a graduate of Cornell University where he obtained a BA in Biology and Society.  As a Clinical Research Assistant, he worked collaboratively with medical providers, research staff, and patients for the SDS Registry and other bone marrow failure projects.  Ian is passionate about promoting health equity, improving patient treatment/outcomes, and advancing medical knowledge through research.

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Gabby O’Connor

CRC II, Cincinnati Children's Hospital Medical Center

Gabby joined the SDS Registry in 2022.

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Katie Coyne, BS

Clinical Research Assistant, Boston Children's Hospital

Katie was a Clinical Research Assistant at Boston Children's Hospital. She first joined the SDS Registry team in 2022 as an intern during college. After graduating from Northeastern University with a Bachelor of Science degree in Biochemistry in 2023, she joined the team as a full-time CRA. She loved being a part of the SDS Registry research team and having the opportunity to work with patients and their families. Katie is now attending the University of Massachusetts Medical School.

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Maggie Malsch, RN, BSN

Clinical Research Manager, Boston Children's Hospital

Maggie was the Clinical Research Manager for the Bone Marrow Failure program at Boston Children’s Hospital. Her initial work with Dr. Shimamura was in the lab, where she worked on SDS. Maggie then went back to school to get her nursing degree from Simmons College and her Masters in Clinical Trials from Drexel University. She worked as a bone marrow transplant nurse at Boston Children’s and eventually moved into the role of research nurse and project manager. When Dr. Shimamura returned to Boston Children’s, Maggie jumped at the chance to work with her again.

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