Rare Disease Neurofibromatosis

May 15, 2020

Collaborations That Transform: Rare Disease Neurofibromatosis

View the full program recording HERE.

In honor of World Neurofibromatosis (NF) Awareness Month, the WuXi AppTec community is proud to join the millions around the world working to enhance our understanding of this rare disease. To this end, on May 15 WuXi AppTec – in close collaboration with the Children’s Tumor Foundation and other vital partners – convened a multi-track webinar series on neurofibromatosis, rare disease research awareness, industry collaborations and innovations. On the day of the premier, both tracks drew over 700 Zoom registrants from 22 countries and regions. Additionally, the 2 tracks were broadcast via international web platforms which brought a viewership of more than 1.3 million.

WuXi AppTec’s focus on NF awareness stems from our broader aspiration to work collaboratively to solve industry-wide problems and bring transformational medicines and treatments to patients, including those with rare diseases like neurofibromatosis. Scroll down for event details and follow us on social media to stay up-to-date on our “Collaborations that Transform” webinar series


10:00 AM - 10:05 AM


Hui Cai, VP and Head of Content, WuXi AppTec

10:05 AM - 11:00 AM

Track One: Perspectives from Clinicians and Patients

This session highlights the important roles patients and healthcare professionals play in biomedical advances, and together with researchers, drug developers, and advocacy groups, collaborate to benefit neurofibromatosis and rare disease patients worldwide.

Bruce Korf, Associate Dean for Genomic Medicine, UAB School of Medicine; Chief Genomics Officer, UAB Medicine
Renie Moss, NF1 patient advocate and family member
Jaishri Blakeley, The Marjorie Bloomberg Tiven Professor of Neurofibromatosis, Johns Hopkins University School of Medicine; Director, the Neurofibromatosis Therapeutic Acceleration Program
McKinnon Galloway, NF2 patient
Gareth Evans, Professor of Medical Genetics and Cancer Epidemiology, The University of Manchester
Dale Berg, Schwannomatosis patient
Hosted by Luke Timmerman, Founder and Editor, Timmerman Report

11:00 AM - 12:00 PM

Track Two: Non-Traditional Research & Development: The Making of the Breakthrough Therapy KOSELUGO® (Selumetinib) for NF1 and the Promise of Brigatinib to Treat NF2

KOSELUGO® (selumetinib), a MEK inhibitor from AstraZeneca and MSD (Merck in the US), was approved by the U.S. FDA in April 2020 as the first NF1 drug to treat children with plexiform neurofibromas, while Brigatinib is under clinical evaluation for the treatment of NF2 through a mechanism that is distinct from ALK activity. In both cases, these drugs were discovered through collaborative, non-traditional conduits.

Scott Plotkin, Neuro-Oncologist; Executive Director, Pappas Center for Neuro-Oncology, Massachusetts General Hospital; Professor of Neurology, Harvard Medical School
Annette Bakker, President, Children’s Tumor Foundation
George Kirk, Koselugo Global Product Leader, AstraZeneca
Brigitte Widemann, Chief, Pediatric Oncology Branch, NCI, NIH; Head, Pharmacology and Experimental Therapeutics Section
Mike Humphries, US Medical Affairs Scientific Director for Lung Cancer, Takeda Oncology
Moderated by Richard Soll, Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec

12:00 PM


As an enabler in the biotech and medical device industry, WuXi AppTec shares our common conviction that we must work collaboratively to solve industry-wide problems and bring transformational medicines to patients.


Hui Cai

Forum Chair, VP and Head of Content Division, WuXi AppTec

Dr. Hui Cai joined WuXi AppTec in 2009 as Vice President of Business Development, and is currently Vice President and Head of Content Division.
Prior to WuXi, Dr. Cai spent 10 years at Johnson & Johnson Pharmaceutical Research and Development leading multiple drug discovery programs in the therapeutic areas of inflammation and autoimmune diseases. She is a co-author and co-inventor to over 50 scientific publications and issued or pending patents. Dr. Cai is a Councilor of the American Chemical Society (ACS), a member of BayHelix, and a member of the UCSD Alumni Board. In her past capacity, she served as a Commissioner at the City of San Diego Science and Technology Commission, Chair of SABPA, and President of SDCA. Dr. Cai received her BS and MS in Chemistry from Peking University, PhD from The Scripps Research Institute, and MBA from UCSD Rady School of Management as a DLA Piper – Athena Scholar.

Bruce Korf

Associate Dean for Genomic Medicine, UAB School of Medicine; Chief Genomics Officer, UAB Medicine

Dr. Korf is the Associate Dean for Genomic Medicine, School of Medicine; Chief Genomics Officer, UAB Medicine; Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, Professor of Genetics, Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine, Associate Director for Rare Diseases, Hugh Kaul Personalized Medicine Institute and editor-in-chief of the American Journal of Human Genetics. He is a medical geneticist, pediatrician, and child neurologist, certified by the American Board of Medical Genetics and Genomics (clinical genetics, clinical cytogenetics, and clinical molecular genetics), American Board of Pediatrics, and American Board of Psychiatry and Neurology (child neurology). Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. His major research interests are molecular diagnosis of genetic disorders and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium, the Alabama Genomic Health Initiative, and the Southern All of Us Network. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), Medical Genetics at a Glance (medical student textbook (now in third edition), Emery and Rimoin’s Principles and Practice of Medical Genetics (now in 6th edition), and Current Protocols in Human Genetics.

Renie Moss

NF1 patient advocate and family member

Renie Moss currently serves as the chair of the Children’s Tumor Foundation Volunteer Leadership Council. Following her son’s diagnosis with NF in 2011, she launched the now annual Alabama NF Walk that has raised over $200,000 for NF research programs, bringing together families affected by NF as well as clinicians and researchers from nearby University of Alabama at Birmingham’s NF Program. She has advocated for continued federal funding for NF research by meeting with her federal leaders and by participating in Congressional briefings on Capitol Hill. She is passionate about providing peer to peer support for families affected by neurofibromatosis, annually coordinating the University of Alabama at Birmingham’s NF Family Symposium with funding provided by CTF. She is also a patient representative for the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) international collaboration, providing patient and caregiver perspective on the design of future clinical trials to improve outcomes. Professionally, Renie serves as the program director for the Alabama Genomic Health Initiative at the University of Alabama at Birmingham’s Department of Genetics. Her two children and husband all have neurofibromatosis type 1 and are cared for by Dr. Bruce Korf through the UAB NF Clinic. Renie and her husband, Philip Sr. live in Birmingham, Alabama along with their two children, Philip Jr, age 14 and Helen, age 12.

Jaishri Blakeley

The Marjorie Bloomberg Tiven Professor of Neurofibromatosis, Johns Hopkins University School of Medicine; Director, the Neurofibromatosis Therapeutic Acceleration Program

Dr. Jaishri Blakeley is a clinician scientist with research expertise is in the development of clinical trials for nervous system tumors and specifically, early clinical-translational studies including tumor pharmacokinetic and pharmacodynamic investigations, imaging biomarkers for rare nervous system tumors and incorporation of patient focused, functional endpoints into efficacy studies. She has been the national or international leader of seven clinical trials focused on therapies for glioblastoma, Neurofibromatosis Type 2 (NF2) and Neurofibromatosis Type 1 (NF1). In 2012 she cofounded the Neurofibromatosis Therapeutic Acceleration Program (NTAP) with the intention of dramatically shifting the landscape of NF1 clinical care via necessary, efficient and expert discovery, translational and clinical research. NTAP focuses on therapeutics, fosters collaboration, facilitates open and timely sharing of results, and streamlines the research process to accelerate therapies for plexiform and cutaneous neurofibromas. Through NTAP, Dr. Blakeley has supported and collaborated with more than 50 laboratories and research teams across the globe enabling meaningful therapeutic development for these NF1 associated neoplasms. The results have been a transformation of the research landscape for both plexiform and cutaneous neurofibromas, including contribution to the development of MEKi inhibitors. In addition, NTAP has facilitated a culture of team science that supports all stakeholders in the research process and maximizes the value of each investigation and each contributor. Her research and programmatic efforts are all in the service of improving outcomes for the patients with NF1, NF2, schwannomatosis and primary brain cancer for whom she is honored to provide care.

McKinnon Galloway

NF2 patient

I was diagnosed with NF at the age of 16 during a routine MRI after sustaining a concussion during a volleyball game. In the 10 years since then, I have had 2 brain surgeries, about 50 MRIs, countless doctor visits, a diagnosis of epilepsy, complete hearing loss on one side, a decade of chemotherapy treatments, spinal cord tumors, and a host of other medical issues. In addition, I have suffered from depression and shame related to my illness.
I not only want to raise awareness for those who do not know what NF is, but I also want to raise awareness for those who have it. I was the 2019 ambassador for CTF where I traveled the world speaking and raising awareness. I moved to New York City after graduation where I got a job at the Children’s Tumor Foundation, continuing to advocate and raise much-needed funding for NF research. My heart goes to the families and patients affected and I am here to help in any way I can to advance science and find a cure for NF.

Gareth Evans

Professor of Medical Genetics and Cancer Epidemiology, The University of Manchester

Professor Evans has established a national and international reputation in clinical and research aspects of cancer genetics, particularly in neurofibromatosis and breast/colorectal cancer. He has published 815 peer reviewed research publications; 298 as first or senior author in addition 150 reviews and chapters. In the last 7 years he has raised over £50 million in grants for multicentre and local studies – approximately £42 million to Manchester. He is Chief Investigator on two NIHR program grants (2009-2014-£1.59 million) (2017-2020-£1million) on breast cancer risk prediction and also has an NIHR RfPB grant as CI (2011). He is overall cancer lead (3 themes) and Cancer Prevention Early detection theme lead on the successful all Manchester NIHR Biomedical research centre bid (2017-2022-£28.5million). He also led the successful application for a £7.5M p.a national service for NF2 in England and has published over 220 articles on neurofibromatosis.

Dale Berg

Schwannomatosis patient

Dale Berg is a patient representative with REiNS (Response Evaluation in Neurofibromatosis and Schwannomatosis), active with Children’s Tumor Foundation local NF Symposiums, NF Forum and Conferences. He has also participated in Cupid’s Undie Run. He was diagnosed in 2015 with Schwannomatosis at age 45. His journey began in 2005 when he had an MRI due to increasing lower back pain. Two consultations by spinal surgeons diagnosed the pain due to a degenerative disc. He ignored increasing pain and discomfort for another 10 years before being urged his general practitioner to have a new imaging. His consulting surgeon had a vague knowledge that the multiple schwannomas that were found were related to NF. Unfortunately, the surgeon referred him to a Parkinson’s clinic. After a quick internet search, Dale was fortunate to have the University of Minnesota and Mayo Rochester NF Clinics near his home. Schwannomatosis was confirmed by the Mayo NF Clinic. Dale’s business background is working with consumer electronics brands, new technologies and major retailers. Bringing new technology to customers via online and store shelves over his 25-year career. A parallel to his involvement in bringing new tech to consumers, Dale is excited to help connect and facilitate NF research and advancements to the NF community. Dale and his wife have an 8-year old son and 11 year old daughter and live in Minneapolis, Minnesota.

Luke Timmerman

Founder and Editor, Timmerman Report

Luke Timmerman is a biotech journalist, author, and entrepreneur. He is the founder of Timmerman Report, a leading biotech industry newsletter, and author of “Hood: Trailblazer of the Genomics Age,” a biography of automated DNA sequencing pioneer Leroy Hood. It was named one of the “100 Best Indie Books of 2017” by Kirkus Reviews. Timmerman has a bachelor’s in journalism from the University of Wisconsin, and in the 2005-2006 academic year, he was awarded a Knight Science Journalism Fellowship at MIT. As a mountaineer, his Climb to Fight Cancer campaigns have raised $2.3 million the Fred Hutchinson Cancer Research Center.

Scott Plotkin

Neuro-Oncologist Executive Director, Pappas Center for Neuro-Oncology, Massachusetts General Hospital Professor of Neurology, Harvard Medical School

Scott Plotkin, MD, PhD, is Professor of Neurology at Harvard Medical School and is the Executive Director of Stephen E. and Catherine Pappas Center for Neuro-Oncology at Massachusetts General Hospital (MGH). Dr. Plotkin joined the faculty of Harvard Medical School in 2003 in the Department of Neurology. Dr. Plotkin’s research focuses on developing clinical trials for patients with NF1, NF2, and schwannomatosis. He has served as principle investigator on single and multi-center clinical trials and is an active member of several national consortia. In 2011, he co-founded the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration. This collaboration has published consensus recommendations for clinical trial endpoints in trials for NF patients and continues to work closely with the FDA, Cancer Therapy Evaluation Program, and other agencies. Dr. Plotkin currently serves as Chair of the Clinical Care Advisory Board (CCAB) of the Children’s Tumor Foundation.

Annette Bakker

President, Children’s Tumor Foundation

Annette, a PhD in Biochemistry, has leadership experience in both the academic and pharma/biotech research enterprise in Italy, Belgium, France, and the USA. Intrigued by the observation that the path from great basic discoveries to equally great clinical benefit is bumpy and often inefficient, she joined the Children’s Tumor Foundation (CTF) in order to try to smooth this path for neurofibromatosis, a rare genetic disorder. The team has built worldwide collaborative science networks, an open biobank, a centralized data collection and integration platform, a patient registry, a key opinion leader (KOL) network, a clinic network etc. Annette feels very strongly about the unique niche role of disease foundation in the R&D ecosystem and involving the patient voice in every initiative. CTF sees patients as partners rather than victims. She hopes that the new CTF enterprise will not only benefit patients with NF, but may be of value to the larger rare disease community.

George Kirk

Koselugo Global Product Leader, AstraZeneca

George has been at AstraZeneca for 23 years and has spent the last 8-9 years supporting Oncology late stage projects and is currently the Global Product Lead for Koselugo (selumetinib). In addition, George leads the paediatric oncology working group which is delivering a new paediatric strategy for our oncology projects. George has worked on the Koselugo program since it entered late stage development in 2012 as well as supporting the Tagrisso program as Director Global Products during 2016-2018.
Prior to this George spend 2 years as a Lean Sigma Black Belt in the Continuous Improvement group and his first 11 years in AstraZeneca as a Project Manager and Team Manager in Pharmaceutical Development. During his time in these roles he worked on a variety of Oncology, Infection and Respiratory and Inflammation projects in both Early and Late Phase Development. George’s training is in Synthetic Organic Chemistry, he completed his Ph.D by research in Synthetic Organic Chemistry at the University of Strathclyde, Glasgow in 1995.

Brigitte Widemann

Chief, Pediatric Oncology Branch, NCI, NIH; Head, Pharmacology and Experimental Therapeutics Section

Dr. Widemann is a senior investigator and head of the Pharmacology and Experimental Therapeutics Section at National Cancer Institute. She also serves as Chief of NCI’s Pediatric Oncology Branch and a Clinical Deputy Director of the Center for Cancer Research. After obtaining her MD from the University of Cologne (Cologne, Germany), Dr. Widemann completed her pediatric residency in Cologne Germany and subsequently a pediatric hematology/oncology fellowship at NCI Pediatric Oncology Branch. She subsequently joined the Pharmacology and Experimental Section and received tenure at NCI in 2009. Her primary research interests are in the development of early clinical trials for children and young adults with refractory cancers and genetic tumor predisposition syndromes such as neurofibromatosis type 1 (NF1), and multiple endocrine neoplasia types 2A (MEN2A) and 2B (MEN2B).
Dr. Widemann and her colleagues have developed novel imaging methods for NF1-related plexiform neurofibromas and pioneered the development of early phase drug treatments for this patient population. Dr. Widemann leads multiple clinical trials of new investigational agents in pediatric refractory cancers and NF1. She also serves as the NCI Pediatric Oncology Branch principal investigator of the Children’s Oncology Group Phase I Consortium and of the Department of Defense-sponsored Neurofibromatosis Consortium.

Mike Humphries

US Medical Affairs Scientific Director for Lung Cancer, Takeda Oncology

Mike Humphries is the US Medical Affairs Scientific Director for Lung Cancer with Takeda Oncology. He completed his Ph.D and Post Doctoral work at the University of Colorado in cellular and developmental biology . He has developed extensive experience in drug discovery, early development, and medical affairs in roles for several companies including Array Biopharma, Bayer, ARIAD Pharmaceuticals, and now Takeda Oncology. He has expertise in precision medicine in oncology with a focus in lung cancer. He is based in Denver, Colorado where he lives close to the mountains with his wife and two children. He is an avid rock climber, skier and a general enthusiast of mountain lifestyle.

Rich Soll

Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec

Dr. Richard Soll is presently Senior Advisor, Strategic Initiatives for the Research Service Division at WuXi AppTec and Head of the WuXi office in Boston, Massachusetts. He has held various leadership roles at WuXi as Senior Vice President including head of the medicinal chemistry unit known as the International Discovery Service Unit, business development, and corporate alliances.
Dr. Soll’s contributions led to the discovery of the HCV NS5A inhibitor elbasvir (a component of Zepatier®) in the Merck-WuXi partnership, the JAK2 inhibitor fedratinib at TargeGen which formed the basis of the $7B partnership between Celgene and Impact Biomedicines, and more than 10 other clinical stage drugs throughout his career.
Dr. Soll is currently a board member at Simcha Therapeutics, an board observer at the Accelerator Life Science Parnters, and an advisory board member with the Blavatnik Center for Drug Discovery at Tel Aviv University, the Children’s Tumor Foundation, and the Pistoia Alliance.
Dr. Soll was CSO / VP of R&D at TargeGen and was VP of Chemistry at 3-Dimensional Pharmaceuticals. He started his career at Ayerst Research Labs and was trained as a synthetic chemist at Dartmouth and Harvard.

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