Review Committee

Antoine Daher graduated in Political Sciences and Public Administration and has always been engaged with organizations that promote commerce and diplomatic relations between Brazil and Lebanon. Father of a MPS II child, he decided to start Casa Hunter in order to promote better treatment for children afflicted by genetic disorders and improve the Brazilian regulatory environment for the research of new treatments. Antoine is also an accomplished businessman and leads two companies in the fashion industry. His comprehensive view in different areas has been a great asset for improving the quality of life of the children assisted by Casa Hunter. He and Plinio will share duties on the review committees.

Joline is a board certified genetic counselor who has worked at the University of Minnesota focusing on neuromuscular and neurodegenerative disorders since she started her career in 2000. She is currently the genetic counselor for the Muscular Dystrophy Association sponsored clinics at the University of Minnesota Medical Center. She has a B.A. in psychology and political science from the University of Minnesota, Morris, a M.S. in Biological Sciences from Duquesne University and M.S. in Genetic Counseling from the University of Minnesota.

In 2003, the Paul and Sheila Wellstone Muscular Dystrophy Center was established at the University of Minnesota where Joline has served in several capacities. She helped establish and grow the MD Center community program, which has initiated several unique initiatives designed to provide hope and support for patients and families affected by neuromuscular disease. Joline has been involved in different aspects of research including discovery of several novel genetic causes of neurogenetic conditions such as, myotonic dystrophy type 2 (DM2) and spinal cerebellar ataxia type 5 (SCA5). She has also been involved in several neuromuscular clinical trials.

Ms. Dorman, a consultant, is focused on the public affairs needs of the rare disease/orphan drug communities. Her goal is to make her expertise available to those in need of assistance in Washington, DC, particularly patient organizations. Ms. Dorman served as the Vice President for Public Policy for the National Organization for Rare Disorders (NORD) and led NORD efforts in its relationship with the federal government and Congress. She was the primary DC representative for more than 30 million Americans who have one of the 7,000 known rare diseases. Her overriding mission was, and continues to be, to improve the plight of patients with rare diseases and increase incentives for the development of orphan drugs, devices, and diagnostics. During her 15 years with NORD, her leadership efforts led to introduction and passage of the Rare Diseases Act (P.L. 107-281), and the Rare Diseases Orphan Product Development Act (P.L. 107-281). She was also influential in the introduction of House Concurrent Resolution 147, commemorating the 20th Anniversary of the Orphan Drug Act, and several Senate and House Resolutions recognizing the last day of February as Rare Disease Day.

Plinio Gherardi, father of a MPS VII child, is a board member and an active advocate of Casa Hunter, a Brazilian organization that not only helps patients with rare diseases gain access to treatment, but also has a multidisciplinary team of professionals who provide supportive treatment to them. Their work also involves projects to raise awareness among the medical community, the public in general and public authorities. Casa Hunter aims to improve the Brazilian regulatory environment with research of new treatments and has been quite successful in this matter. Plinio also runs a translation and interpretation business and uses this knowledge to project Casa Hunter internationally by creating partnerships with companies and organizations abroad.  He and Antoine will share duties on the review committees.

Joy Bartnett Leffler, MLA, NASW, CSE, has over 30 years experience in medical writing, medical informatics, grant writing/review and senior management of medical education companies, both non-profit and for-profit. Most recently, she was: Sr. Medical Director and Director of Educational Outcomes at CME Outfitters, LLC; Director of Education and Bioinformatics for the Movement Disorders Education Fund in New York, NY; and Vice President of Information Services at the National Organization for Rare Disorders (NORD). Ms. Leffler owns and operates MedEdInfo, a successful biomedical communications company in New York and Arizona. At the Movement Disorders Education Fund, she was responsible for grant reviews, patient education and the company’s ACCME-accredited with commendation CME programs. In addition, Ms. Leffler was a member of the Executive Committee for the European Initiative for the Creation of the European Database for Rare Disorders in Paris, France; member of the Executive Committee for the National Council for Health Professional Education in Genetics; voting member of MedBiquitous Standards Committee. Named in February 2000 as one of the top 25 industry leaders in online health informatics, Ms. Leffler continues to channel her energy and experience into the field of educational program creation and implementation with the ultimate goal of improved patient health outcomes.

Kari Luther Rosbeck serves as President and CEO of the Tuberous Sclerosis Alliance and established the Unlock the Cure initiative to foster collaboration with industry and academia to move treatments for tuberous sclerosis complex (TSC) forward in a more expedited way.  This led to the establishment of the a TSC Clinical Research Consortium now involved in four clinical studies and trials including the first preventative clinical trial for epilepsy in the United States. Among her accomplishments, Kari developed the TS Alliance’s vast national network of more than 35 volunteer branches called Community Alliances; increased volunteer participation from 90 individuals to more than 2,000; and through her involvement in special events and major gift fundraising, helped increase the organization’s annual revenue by more than 140 percent. She serves as the chair elect of the American Thoracic Society Public Advisory Roundtable (ATS PAR) and on the Editorial Advisory Board of Rare Disease Report.

Anna Kole is a public health professional with more than a decade of experience in the field of rare diseases, both in the US and Europe.

During her tenures with Orphanet (the online resource for rare diseases and orphan drugs), the European Organisation for Rare Diseases (EURORDIS) and the National Organization for Rare Disorders (NORD), Anna has been responsible for a range of activities in the field: advocacy, policy making and analysis, patient education and research. She has served on working groups of the International Rare Disease Research Consortium and the executive committee of the TREAT NMD Neuromuscular Network as a patient representative.

Today she regularly supports patient organizations, research institutions and pharmaceutical companies in their efforts to make the best care and treatments available to patients living with rare diseases.

In her spare time she organizes charity sales to raise money for rare disease patient groups.

Brian O’Mahony is the Chief Executive of the Irish Haemophilia Society and the President of the European Haemophilia Consortium (EHC) which represents 44 National Haemophilia Patient Organisations in Europe.   He represents the society on the statutory National Haemophilia Council and he is the Vice Chair of the Tender Commission established by the Irish Government for the Procurement of Factor Concentrates.  He is a member of the Board of the Irish Blood Transfusion Service and of the Irish Government vCID incident panel. He previously served as Chair of the Irish Haemophilia Society for 17 years and as President of the WFH for 10 years from 1994 to 2004.  He continues to work as a volunteer with WFH and as a member of the Therapeutic Product Safety, Supply and Availability Committee. Among his activities are writing, advocation, and facilitating training.  He has facilitated training courses for Health Ministries, Clinicians and patient organisations in many countries.  A medical scientist by profession, he is a Fellow of the Institute of Biomedical Sciences (UK) and a Fellow of the Academy of Clinical Science and Laboratory Medicine (Ireland).