We would like to thank our sponsors for their generous contributions that made this meeting possible.

The Bloom Syndrome Association also extends our heartfelt gratitude to all the donors
whose generous contributions have made the Beyond Borders conference possible.
Your support is instrumental in fostering collaboration, innovation, and progress
within the Bloom syndrome community.
Thank you for your unwavering commitment and dedication.

Conference Welcome

Welcome to the 2024 Bloom Syndrome Patient & Family Conference. This is our first conference in Europe
and we look forward to making new friends at this year’s meeting! Whether you’re joining us in Frankfurt
or participating online, we are excited to have you attend, and hope that you will be informed and energized by the program we have put together. The Bloom syndrome community is relatively small, but thanks to each of you, we are a cohesive and active support community focused on our members’ health and well-being.
We look forward to seeing you in August!

Event Management Team
Mary Beth Campbell
Sylvia Campbell
Anne Marie van den Hurk
Jochen Obermeier
Tanja Obermeier
Eileen Rosenthal
Anne Webb
Susan Zaslaw (Chair)

Conference Schedule

All conference sessions will be held in Salon Rooms 5 & 6, unless otherwise noted.

Friday, 8/2/24

Saturday, 8/3/24

Sunday, 8/4/24

Session Descriptions

Note: Copies of the speakers’ presentations and recorded sessions will be made available on the BSA website after the conference.

Conference Presenters

Chris Brünger, MD

Chris Brünger, MD, German national, long-term resident in Japan, member of Japanese Bloom Syndrome family through my wife. BSA Japan coordinator.

Internist (focus GI oncology, Essen University, Germany; Fujita Health University, Nagoya; Keio University, Tokyo) and pharmaceutical physician with international drug development experience in big Pharma (Schering AG, Pharmacia), consulting for Pharma/Biotech and for NPO Drugs for Neglected Diseases initiative, Geneva.

Vivian Chang, MD

Vivian Y. Chang is a pediatric hematologist-oncologist at University of California, Los Angeles, Mattel Childrens Hospital. She established the first multidisciplinary genomics clinic for pediatric cancer predisposition in 2012 and specializes in taking care of patients with suspected or identified cancer predisposition syndromes. This translational clinic provides opportunities and access to research through biobanking and various research trials for targeted therapies, new sequencing technology, and improved surveillance. Her lab research focuses on hematopoietic stem cell maintenance and regeneration, wide applicability in ameliorating side effects from chemotherapy and radiation, improving bone marrow transplantation, and potentially preventing development of leukemia.

Mary Beth Campbell, PhD

Mary Beth Campbell currently serves as the Chair of the Bloom Syndrome Association’s Board of Directors. She has served on the Board since 2018, and has been actively involved in several committees. In 2017, Mary Beth and Wes Campbell organized a workshop focused on Bloom syndrome; they, along with the other families that participated, subsequently published a paper outlining research priorities from the patient community perspective. Mary Beth received her Ph.D. in Applied Physics from Harvard University, where she was a National Defense Science and Engineering Fellow.

Chris Cunniff, MD

Dr. Christopher Cunniff is a board-certified Pediatrician and Medical Geneticist and is the Chief of the Division of Medical Genetics at Weill Cornell Medical College in New York. He has been a practicing medical geneticist for over 25 years and is currently Professor of Pediatrics and Co-Director of the Bloom Syndrome Registry. He has served in leadership roles in medical genetics as Chair of the Committee on Genetics of the American Academy of Pediatrics, as a member of the Board of Directors of the American College of Medical Genetics, and as President of the American Board of Medical Genetics. In 2015 he assumed leadership of the Bloom Syndrome Registry, which maintains medical information on over 275 persons with Bloom syndrome, as well as samples from over half of registrants. Working with other experts on Bloom syndrome, he has authored clinical care recommendations for people with Bloom syndrome, which are to appear soon in the American Journal of Medical Genetics. He is actively engaged in additional Bloom Syndrome investigations on feeding and nutrition concerns, cancer onset and treatment, sensitivity to ultraviolet and ionizing radiation, and the genetic changes seen in cancer in people with Bloom syndrome.  He is very pleased to be working together with participants and speakers at this conference to understand the medical and social needs of people with Bloom’s Syndrome, to increase and share knowledge, and to plan for the future. 

Nathan Ellis, PhD

Nathan Ellis is a Professor of Cellular and Molecular Medicine at the University of Arizona and a program leader in the University of Arizona Cancer Center. He trained in human molecular genetics at the University of Washington in Seattle and the Imperial Cancer Research Fund in London. He has previously held academic positions at the New York Blood Center and Memorial Sloan-Kettering Cancer Center in New York and University of Chicago and University of Illinois at Chicago. He studies genetic mechanisms regulating homologous recombination during DNA replication and dysregulation of the WNT signaling pathway in early-onset colorectal cancer. He is part of a large group of researchers at Arizona developing cellular models of neoplasia that better inform outcomes in drug development.

Paula Hesch

Paula is a longstanding member of the Bloom syndrome community and the mother of Jason Hesch, who had Bloom syndrome and passed away in 2023. Paula has been leading an initiative with the Bloom Syndrome Association to gather insights and experiences from those who have battled Bloom syndrome cancers to better understand the challenges faced by those with cancer, help identify areas where support and resources are needed most, and develop a better understanding of successful Bloom syndrome cancer treatments.

Nicole Kucine, MD

Dr. Nicole Kucine received her training in pediatric hematology/oncology at the combined fellowship program of Weill Cornell Medicine and Memorial Sloan Kettering Cancer Center. She joined the faculty of the Department of Pediatrics of Weill Cornell Medicine in 2011 and is currently an Associate Professor of Clinical Pediatrics. She received a master’s degree in Clinical and Translational Investigation in 2015 and is an active clinical researcher in various areas of pediatric hematology and oncology. She took over leadership of the Bloom Syndrome Registry in Spring of 2022.

Stefan Meyer, MD

Dr. Stefan Meyer works as a Honorary Consultant Pediatric Oncologist at the Royal Manchester Children’s Hospital, and the Young Oncology Unit/Palatine Treatment Centre at the Chrisite NHS Foundation Trust.

He leads the multidisciplinary care for children with Fanconi anaemia, Bloom syndrome and other Chromosomal Instability Syndromes.

Shehla Mohammed, MD

Shehla is a paediatric clinical geneticist with 28 years’ experience predominantly in rare genetic conditions and in the care of children and families with complex life-limiting disorders. Originally a paediatric intensivist, she undertook further training in Clinical Genetics and was as an ICRF Clinical Research Fellow in Cancer Genetics at Guy’s Hospital.

Until 2017, she was Head of Service of the Guy’s Regional Genetics Service (SE Thames Regional Clinical and Diagnostic Laboratories) for 20 years. 

Shehla has a special interest in translating new technologies into a clinical setting and to enable the successful delivery of multidisciplinary and patient-focused services. With a strong clinical and managerial background, she has successfully advocated for rare diseases and has developed and leads National Highly Specialist Multidisciplinary Services for a number of complex disorders with colleagues from the dedicated Rare Diseases Centre at St Thomas Hospital, London.

She has been the Principal Investigator in Phase III clinical trials and has effectively fostered international collaborations to improve patient outcomes for rare and ultrarare multisystem disorders. 

She has been involved with a number of professional bodies. Currently, she is a member of the Highly Specialised Technologies Evaluation Committee at NICE (which assesses novel therapies for rare and ultra rare disorders for implementation in the NHS), a member of the England Rare Disease Framework Working group (Sept 2021- to date), an Associate of the PHG Foundation at Cambridge and a Trustee for a number of patient support groups.

Ron Squire, LCSW

Ron became interested in the field of mental health after a life-altering hiking accident that left him partially paralyzed. This incident greatly impacted him for the good and gave him unique insight into helping others through their challenges. He is insatiably curious and his constant reading is an asset to his work. Ron’s love of history, philosophy, neuroscience, the outdoors, and well-timed humor helps his clients work towards their goals. Whether it’s difficult life transitions, mental health battles, or goal setting, Ron is here for you and your loved ones. He genuinely considers it his life’s work.

Throughout his career, he has worked with teens, families, couples, and individuals. He also has extensive knowledge and expertise in working with individuals on the Autism Spectrum. Ron understands the complexity that can exist in the issues we face. If you are experiencing difficult life transitions, existential turmoil, trauma, anxiety, depression, grief, addictions, or family conflict, Ron is highly skilled in treating these areas of life that feel insurmountable at times.

Leza Wightman

Leza Wightman lives in North Yorkshire, England with her husband James, and two children, George and Olivia. Olivia was diagnosed with Bloom syndrome when she was 18 months old; she is now 16 years old. Leza has been an active member of the Bloom community for approximately ten years and this is her fourth conference attendance.

Thanks to Our Conference Volunteers!

Jochen Obermeier

Anne Marie van den Hurk

Susan Zaslaw

Special thanks to Jackie LaHaye for creating the Beyond Borders conference graphic.

Bloom Syndrome Association Leadership

Medical-Scientific Advisory Board Members

Christopher Cunniff, MD (Chair)

Vivian Chang, MD

Nathan Ellis, PhD

Joanna Groden, PhD

Nicole Kucine, MD

Stefan Meyer, MD

Edith Schussler, MD

Maria G. Vogiatzi, MD

Lisa Wang, MD

Conference Attendees

* Conference presenters and moderators