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  • Rare Disease

Syneos Health Celebrates Rare Disease Day

February 26, 2019
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What Rare Disease Means to Syneos Health

Definitions of what is considered a rare disease vary by geography. However, the passion to help discover and deliver medicines to help improve the lives of these patients can be felt from every corner of the globe.

In support of patients who are impacted by more than 7,000 existing rare diseases, the European Organisation for Rare Diseases (EURORDIS) initiated Rare Disease Day in 2008 to raise awareness of these diseases and the struggles rare disease patients and caregivers face.

In celebration of Rare Disease Day executives from across Syneos Health reflect on their passion for their work in rare and why it's so important that the industry comes together to improve and treat rare diseases. Our 21,000 clinical and commercial problem solvers have the distinct privilege of working to develop and deliver medicines to these patients that need them most. 

“Not long ago, I visited Quito in Ecuador (~4,000 m above sea level). Having lived at sea level my entire life, I immediately felt short of breath while walking. I quickly realized this is what patients with chronic respiratory diseases experience on a routine basis. Having a rare respiratory disease such as cystic fibrosis, idiopathic pulmonary fibrosis or alpha one antitrypsin deficiency equates to progressive shortness of breath, wheezing and/or dyspnea. This experience led me to appreciate the burden of disease these patients experience nearly daily. Hopefully, improved therapies or a cure will be available in these patients’ lifetime!”

Vikki Brandi, PA, DHSc, Executive Director, General Medicine, Syneos Health

“I am excited to see an increasing number of CNS studies conducted under the orphan disease umbrella. If we add up all rare neurological diseases, there are many patients waiting for relief in their daily lives and I am quite happy to contribute by working on clinical trials in these indications. There are several methodologic challenges in the rare disease space including, but not limited to: high placebo response, lack of accepted efficacy endpoints, wide heterogeneity in patient presentation, illness-related physical limitations on travel and very few sites in the world with the expertise in each specific indication. What a challenge!”

Teresa Leon, Senior Vice President, CNS Clinical Development, Syneos Health

“I am blessed by working in hematological rare diseases. On one hand, by studying them we have a fascinating glimpse into the mechanisms of our body in health and disease. Being in touch with the affected families teaches you huge lessons on coping with life. On the other hand, we are living at a time when we have started to have tools to treat many of them effectively, and life-changing treatments are already here for some. It is indeed great to be part of this!”

Daniel Mazzolenis, MD, MBA Therapeutic Area Leader, Non-Malignant Hematology Oncology and Hematology Business Unit, Syneos Health

"During my first year in the industry, I had the privilege of working with a rare disease treatment for Hunter's disease. As a team, we have been fortunate to help many innovative firms bring their medications to market that address orphan and ultra-orphan indications. In many instances, patients are under-diagnosed and the burden on caregivers can be overwhelming. Our industry is making great strides in raising awareness, improving diagnoses and treating many of these diseases. Yet, there is so much more to be done. Our team remains motivated to helping firms bring novel treatments that will impact orphan disease patients and their caregivers." 

Rohit Sood, Practice Area Leader, Commercial Strategy & Planning Practice, Syneos Health Consulting 

“The majority of rare diseases have zero treatment options and children are the most affected population. Having interacted with rare disease patients from family friends and families at rare disease conferences, it is painful to see children struggle in their daily life. It reminds me how important it is to find therapies for these diseases. It was very satisfying and encouraging seeing the drugs approved from the Spinal Muscular Atrophy and Lysosomal Acid Lipase deficiency clinical trials in which I worked as a medical scientist. Rare disease research is full of passionate people as both sponsors and CRO/CCOs. I am hopeful that with increased awareness and funding, advances in genomics and novel techniques like CRISPR and CAR-T we will be able to bring more advanced therapies to these life threatening disorders.”

Mallik Metukuri PhD, RAC, Manager, Medical Operations, Syneos Health

“My first experience with a rare disease was cystic fibrosis. I knew someone who had a lung transplant for cystic fibrosis but I never really knew how devastating the disease was. The drug I was working on was the first drug with the potential to not just treat symptoms, but modify the disease. That year I was able to attend the CF Foundation conference and see one of the patients who was dosed at one of my sites. She spoke during the plenary session about her experience and what the experience and the medication’s potential meant to her. From that moment, I was hooked.”

Mariah Baltezegar, Executive Director, General Medicine, Syneos Health

“My passion for rare disease started many years ago when I started to work on a Duchenne Muscular Dystrophy study. Nine years ago my passion was ignited when my son was in a pediatric intensive care unit for many weeks and I sat there day after day with the parents of daughter born with an ultra-rare metabolic disease. It was then that I saw the power, the love and the persistence of a family that was living in a devastating situation. I think that having the possibility to contribute to the development of treatments for patients with rare disease is a privilege; you really have the perception to contribute to improve other people's lives.

The words once shared with me from a mother of a child with Duchenne Muscular Dystrophy have stuck, “Please do all that you can to make it possible that my child is the first one to survive for a normal life and not the last one to die.'”

Cinzia Dorigo, Vice President, General Medicine, Syneos Health

“I organised and attended a PAG advisory board for a very rare disease(s) called ATTR FAP and FAC – a familial build-up of amyloid in the nerves or heart, respectively. The disease is so rare that local PAGs are created and run by patients, dedicated to driving awareness of an under-recognized progressive, debilitating and fatal disease with the hope of creating a single, coordinated voice that shouts louder than their own. This single voice lobbied regulatory bodies and pharma to develop products that could help as currently there are no options, and prognosis is 3-10 years. The potential of a therapy was huge to them and their families – and not only to treat themselves, but to ensure people in the future don’t helplessly suffer in silence like they do/did.”

Alexander da Costa, Medical Communications Consultant, Litmus Medical Communications, a Syneos Health company

“Having studied the underlying genetics of a handful of rare diseases at university some 25 years ago, phenomenal progress continues to be made from a research and development perspective and importantly, the positive impact therapies are having on people living with rare disease, their families and communities. It’s truly an inspiration to be working in partnership with clients so committed to helping people with rare disease.”

Fiona Tavner PhD, Biosector 2, a Syneos Health company

“Working within the therapy area of rare disease has given me direct insight to the struggles patients and their families face on a daily basis. Not only do they have to put great effort into merely surviving every day, they have to overcome obstacles that the rest of us don’t even have to think about. They are so inspirational to me, and their resilience makes me feel like I have to come to work and put forward my best effort in order to help them in any way I can. I love coming to work every day and knowing that what I do is helping to provide better outcomes for people with rare diseases. Knowing that provides meaning to the job I do.”

Paula Almeida, Biosector 2, a Syneos Health company

“When you think about it collectively, rare diseases are not rare. In the U.K., 3.5 million of us will be impacted by a rare disease in our lifetime. This is why it’s so important that we work together to improve understanding, diagnosis and treatment of rare diseases.”

Helen Swift, Chamberlain Healthcare Public Relations, a Syneos Health company

“According to definition, each rare disease affects only a small number of people. But when taken together, a significant percentage of a population is affected, some diagnosed and treated, some not – many of them on lengthy and frustrating journeys. Looking at rare diseases from this point of view reveals the serious burden on patients, families, societies and health systems. This helps me appreciate the collective effort of biopharmaceutical researchers to bring more and more novel diagnosis and treatment regimens to the market in an accelerated way.”

Arno Bock, Vice President Business Development, Syneos Health Communications

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