Agility Rare Disease Day Event

To increase awareness for rare disease research and raise funds for the One in a Billion Foundation, supporting patient advocacy for Macrophage Activation Syndrome Diseases, including XIAP and NLRC4


Meet Nicholas Volker

After “over 100 trips to the operating room, IV only nutrition, 400 plus days in the hospital, multiple bouts of a life-threatening blood infection…” “Nic is considered cured from his two ultra rare diseases and the first person saved from DNA sequencing a FACE of the Human Genome project…”

Learn More

Your donations will help to build the patient advocacy organization, create a support network for patients and their families, develop a registry database, and support research for potential treatments for these devastating diseases.



February 2, 2017


BIOCOM, 10996 Torreyana Road, San Diego, CA 92121

2:30 – 3:00 p.m. Registration

3:00 – 5:30 p.m. Presentations

Stephen Kingsmore, MD, DSc
President/CEO, Rady Children’s Institute for Genomic Medicine, San Diego
A Vision for Precision Medicine at Rady Children’s Hospital
Amylynne Volker and Nicholas Volker
Founder of One in a Billion Foundation and mother of Nic Volker
The First Child Saved By DNA Sequencing
Marlene Haffner, MD, MPH
CEO of Haffner Associates
Former Director, FDA Office of Orphan Products Development
21st Cures – What’s in it for Rare Diseases and Orphan Drugs
Jacqueline Blem
Sr. Director Project Management, Agility Clinical
Taking the Patient-Centric Approach to Clinical Research in Orphan Disease

5:30 – 7:00 p.m. Reception: Hors d’oeuvres, Beer and Wine


Stephen Kingsmore, MD, DSc

President/CEO, Rady Children’s Institute for Genomic Medicine

Stephen F. Kingsmore is President and CEO of Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital, San Diego, which is implementing pediatric genomic/precision medicine at unprecedented scale. Previously he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. He has been the President and CEO of the National Center for Genome Resources, Santa Fe, New Mexico, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, founder of GatorGen, and Assistant Professor at the University of Florida’s School of Medicine. Dr. Kingsmore received MB ChB BAO and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, and received the 2013 Scripps Genomic Medicine award and 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. In March of 2015, Dr. Kingsmore surpassed his previous record in genetic sequencing by reducing the process to 26 hours which was recognized in April 2016 by Guinness World Record as the fastest genetic sequencing in the world.Genome Medicine.

Amylynne Santiago Volker and Nic Volker

Founder of One in a Billion Foundation and mother of Nic Volker

Amylynne Santiago Volker is the mother of four children, including Nic Volker, the subject of the Pulitzer Prize-winning “One in a Billion: A boy’s life; a medical mystery” series by the Milwaukee Journal Sentinel, and the first child saved by DNA sequencing. Amylynne and Nic will talk about the journey to diagnosis of XIAP deficiency.

Marlene Haffner, MD, MPH

CEO of Haffner Associates
Former Director of the Office of Orphan Product Development

Dr. Marlene Haffner, MD, MPH is the CEO of Haffner Associates, LLC a firm dedicated to the strategy, development and policy of drug development with a special emphasis on rare diseases and the products that treatment them.  For 20 years, Dr. Haffner served as Director of the Office of Orphan Products Development (OOPD) of the Food and Drug Administration (FDA). As OOPD Director she was responsible for the leadership and management of the FDA orphan products development program, the first Orphan Products program in the world.  In addition to her FDA responsibilities, Dr. Haffner assisted in the development of Orphan Drug programs in the EU, Japan, Australia and beyond.  She is well known as an expert in orphan drug development and is a sought after speaker and consultant in that area of regulatory science.

In addition to her consulting activities, Marlene is Adjunct Professor, Department of Preventive Medicine and Biometrics, and Clinical Professor, Department of Medicine, at the F. Edward Hébert School of Medicine, Uniformed Services University of the Health Sciences (USUHS) in Bethesda, Maryland.

A sought after speaker and consultant, Dr. Haffner has received many awards for her work in drug development including The Outstanding Contributions to Pharmaceutical Medicine Award from the American Academy of Pharmaceutical Physicians, and the Woodrow Wilson Award for Outstanding Government Service from the Johns Hopkins University.  She is the author of multiple articles in peer reviewed literature concerning issues of orphan product development.

Dr. David Dimmock

Clinician, Rady Children’s Institute for Genomic Medicine

Dr. David Dimmock is a nationally-renowned expert on the field of clinical genomic medicine. Dr. Dimmock joined the Rady Children’s Institute for Genomic Medicine, located in San Diego, CA, in June 2016.
He is the clinician primarily responsible for the first use of exome sequencing to change the medical management of a child. This case was the subject of Pulitzer Prize winning articles and the book, One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine.
In 2010, he was a leader of the team that deployed the first clinical end-to-end whole genome sequencing test. This solution included patient counseling and consent, clinical laboratory testing, data analysis, data return.
Before joining Rady Children’s, Dr. Dimmock’s clinical practice focused on the diagnosis of heritable disorders in children and adults and the long term care of patients with mitochondrial and metabolic disorders. He has been the principal investigator for multiple industry sponsored studies evaluating novel therapeutics for these disorders.

Jacqueline Blem

Sr. Director Project Management, Agility Clinical

Jacqui Blem has worked in the drug and device development industry for the last 20 years, and has worked for Roche, Genzyme, Alere, Prometheus/Nestle Health Sciences, Neurocrine and PRA Health Sciences. She has worked on multiple therapeutic areas including Infectious disease, CNS, Women’s Health, Endocrinology, Nephrology, Oncology, including some indications in rare disease. She was member of the clinical team that developed an enzyme replacement therapy for Fabry Disease (Fabrazyme®) at Genzyme, and most recently managed the clinical research program for a rare genetic kidney disease (Alport syndrome) at Regulus.  Currently Jacqui supports a glioblastoma program at Agility Clinical.  Jacqui is a frequent speaker on Patient-Centric Trials, and building Quality in to Clinical Operations.

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