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Stephen Groft, Champion of Rare Diseases Research, Retires

Portrait of Dr. Stephen GroftThrough his work with a community that often feels isolated, Stephen C. Groft, Pharm.D., has helped give thousands of rare disease patients and their families renewed hope and a collective voice. A public servant for more than four decades and a tireless advocate for rare diseases research, Groft is recognized by many as a luminary and true champion of rare diseases research.

On Feb. 8, 2014, Groft will retire from his current position as director of NCATS’ Office of Rare Diseases Research (ORDR). He leaves a 30-year legacy of advancing rare diseases research and improving the lives of patients with these conditions. Pamela M. McInnes, D.D.S., M.Sc.(Dent.), NCATS deputy director, will serve as acting director of ORDR during the search for a new director.

What Is a Rare Disease?

In the United States, a rare disease is generally considered to be a disease that affects fewer than 200,000 people. Rare diseases are sometimes called orphan diseases.

Groft’s journey, which includes many major milestones, started on a personal note. "Growing up in the 1950s, I had friends and neighbors who were stricken with diseases that had few or no effective treatments," Groft said. "Some of the diseases of our time that I witnessed firsthand included cystic fibrosis, leukemia, brain tumors, Marfan syndrome, muscular dystrophy, cerebral palsy, polio, multiple sclerosis and Parkinson’s disease."

These personal connections led him to a career at the Food and Drug Administration (FDA) and NIH, where he worked to prioritize rare diseases research and orphan product development. Along the way, he also served in a variety of advisory roles to national leaders, including congressional and White House representatives, allowing him to influence the national agenda on rare diseases research.

"The creation of NCATS is in many ways a validation of Steve’s work over the past 30 years," said NCATS Director Christopher P. Austin, M.D. "Rare diseases are no longer a curiosity on the periphery of the biomedical research enterprise. They now are central to the research agenda, and that is due in large part to Steve’s vision, dedication and effectiveness." Rare disease research is a crucial priority for NCATS. The Center fosters collaborative efforts with multidisciplinary research teams to develop new approaches to drug discovery for rare diseases.

The Early Years

"Dr. Groft is an exceptional individual whose passion and commitment to patients was unprecedented. He has led the rare diseases community by setting an example as to how we should work together in order to be successful and make a difference, and he practiced what he preached."
— Nicole Boice, president/founder, Global Genes | RARE Project

Groft began his career in 1968 as a small-town pharmacist in Pennsylvania, helping patients understand their conditions and medications and building connections that would influence his lifelong focus on rare diseases. His policy-related efforts began in 1982 at the FDA Office of Orphan Products, a division dedicated to advancing the evaluation and development of therapeutics for the diagnosis and treatment of rare diseases.

Throughout the 1980s, Groft served in a variety of leadership roles to help advance the national research and drug development agendas for rare diseases, beginning with his support of the Orphan Drug Act (ODA) in 1983. Prior to the act, pharmaceutical companies often neglected therapeutics for rare diseases because the cost of research and development frequently outweighed the return on investment for products that only a small number of people needed. The ODA provided financial and regulatory incentives to pharmaceutical companies to make production of so-called “orphan drugs” more cost-effective. Since the law’s enactment, the FDA has approved more than 450 orphan products, and the rate of approval has increased: In 1983, two orphan products were approved; in 2012, 26 were approved.

"Steve Groft has been a vital link to the scientific community, supporter and friend to rare disease patient advocates for more than 30 years. He has given patient leaders the courage and confidence to become active participants in the research process, and he has been a tireless advocate for their inclusion in the process. NORD will forever be grateful to Steve."
— Peter L. Saltonstall, president and CEO, National Organization for Rare Disorders (NORD)

Changing U.S. Policy and Practice

Stephen Groft and SSA Commissioner

Groft received the Social Security Administration Commissioner's Appreciation Award at a Capitol Hill event in December 2012 for his work to assist rare disease patients who seek disability benefits.

Recognizing that more was needed than industry incentives, Congress established the Department of Health and Human Services’ (HHS’) National Commission on Orphan Diseases in 1985, charging it with identifying gaps in rare diseases research, patient care, regulatory issues, insurance coverage and related areas. In the HHS Office of the Assistant Secretary for Health, Groft served as executive director of the Commission from 1987 to 1989. The group’s efforts culminated in a 1989 report to Congress that led to the establishment of ORDR in the Office of the Director at NIH. The ORDR mission was — and remains — to identify, stimulate, coordinate and support research to respond to the needs of patients with rare diseases. Groft became ORDR director in 1993, remaining in the post through the office’s 2011 transition to NCATS.

During his more than two decades as ORDR director, Groft worked with legislators, regulators, researchers, pharmaceutical representatives, patients, families and patient advocacy groups to build a community that could address the needs of rare disease patients more effectively. His accomplishments include:

  • 1995: Scientists studying rare diseases often do so in isolation and unaware of each other’s work. Recognizing the need for these researchers to collaborate and share knowledge, Groft and other ORDR staff initiated a scientific conferences program with the 27 Institutes and Centers (ICs) at NIH. Since then, more than 1,200 ORDR-supported research conferences and workshops have taken place.
  • 2000: Groft contributed research protocols to NIH’s ClinicalTrials.gov — a Web-based resource that provides easy access to publicly and privately supported clinical studies — expanding the system to include a broader range of diseases and conditions.
  • 2002: Groft collaborated with the National Human Genome Research Institute (NHGRI) to establish the Genetic and Rare Diseases Information Center, a public forum providing information about more than 5,000 rare and genetic diseases to patients and families.
Stephen Groft and his wife Jan at an awards ceremony and Groft receiving a medal

At left, Groft and his wife Jan at the Global Genes | RARE Project Tribute to Champions of Hope Awards Ceremony in September 2013; at right, Groft received the Medal of Honor for "Vision and Pioneering Guidance" at the National Organization for Rare Disorders' 30th Anniversary Celebration in May 2013.

  • 2003: Groft led ORDR’s efforts in establishing the Rare Diseases Clinical Research Network (RDCRN), which enables collaborative, trans-NIH clinical research on causes, prevention, outcomes and treatments of rare diseases. Several RDCRN researchers have developed successful therapeutic products that received FDA approval.
  • 2008: Groft, along with NHGRI, the NIH Clinical Center and other NIH ICs, helped create the trans-NIH, multidisciplinary Undiagnosed Diseases Program. This clinical research initiative is designed to advance medical knowledge about rare, undiagnosed diseases and to provide answers to patients who suffer from conditions with no diagnosis.
  • 2012: Groft led ORDR in establishing the International Rare Diseases Research Consortium to encourage international collaboration in rare diseases research.

Groft has received multiple awards in recognition of his decades of hard work to advance rare diseases research and therapeutics. These awards include the 2013 Henri Termeer Lifetime Achievement Award from the Global Genes | RARE Project, the 2012 Social Security Administration Commissioner’s Appreciation Award for Groft’s work to assist rare disease patients who seek disability benefits, and the National Organization for Rare Disorders’ Medal of Honor for “Vision and Pioneering Guidance” in rare diseases research.

Looking to the Future

"It's not often that you meet a person who successfully combines service with sincerity and integrity. But when you do, you have met a person who will change the world. Steve Groft is one of those people, and he has positively changed the world of rare diseases."
— Charles A. Mohan, Jr., CEO and executive director, United Mitochondrial Disease Foundation

Groft’s departure coincides with a time of unprecedented optimism and promise for the understanding and treatment of rare diseases. Major advances in small molecule therapies, regenerative medicine and nanotechnology, whole-genome sequencing, and personalized medicine hold enormous potential for improving the lives of patients with rare diseases. NCATS will pursue these opportunities with undiminished energy and an aim to achieve Groft’s vision that every rare disease be understood and effectively treated.

“I’ve never before seen so many opportunities and research activities related to rare diseases and orphan products and so many possibilities for therapeutic development,” Groft said. “We are on the cusp of transformative and revolutionary breakthroughs, and I anticipate that I will be hearing more about NCATS’ role in these areas in the years to come.”

"Steve has given the world a great gift in his passion and compassion for all of us whose lives are profoundly affected by rare diseases. His joy for life has permeated his work and lessened the suffering of millions. Steve is always open-minded, creative and steadfast. We will miss him greatly but will build on the immense foundation he leaves us."
— Sharon F. Terry, president and CEO, Genetic Alliance

 

Posted February 2014