OUR SCIENCE
Leading Science in Rare Diseases, Every Day
With more than three decades of research and nearly 20 years of real-world evidence, we’ve proven what is possible in a variety of rare diseases and devastating conditions across neurology, hematology, nephrology, and metabolics. This experience drives us to continue advancing our science to help patients and families fully live their best lives.
LIVING WITH PNH
Our Foundation in Complement
Our pioneering legacy in rare diseases is rooted in being the first to translate the complex biology of the complement system into transformative medicines. The scientific community was initially skeptical about complement inhibition, but our scientists led the way. Their work has helped many people living with rare diseases reclaim their lives. Today, we continue innovating to accelerate the discovery and development of new life-changing therapies for even more patients.
What Is the Complement System?
Part of the immune system and essential to the body’s defense against infection.
Understanding the C5 Protein
The complement system’s cascade of molecular reactions ultimately leads to activation of the C5 protein. Watch to learn more about the role of C5.
Understanding the FD Protein
Factor D, a complement system protein, plays a key role in activating the alternative pathway, which amplifies the complement response. Watch to learn more.
Understanding the Properdin Protein
Properdin is critical in stabilizing key complement protein complexes, which helps to regulate alternative pathway activation and amplification. Watch to learn more.
Pioneering Complement Science
[2:34] Our scientists blazed a trail in complement inhibition research. Hear from a few of our pioneers who played a role in translating this research into transformational medicines for rare diseases and why they persisted.
Driving Complement Research Forward
[2:37]
Learn about Alexion’s ongoing research to build upon our deep expertise in complement biology, and hear about our work to advance the next generation of complement inhibitors to help more patients.
Complement- Mediated Diseases
Dysregulation of the complement system is a driver of many diseases. We remain focused on innovating to translate the science of complement inhibition into new medicines.
aHUS
Atypical Hemolytic Uremic Syndrome (aHUS)
A rare, progressive, chronic disease with relapses caused by a combination of genetic and/or environmental factors resulting in complement dysregulation. aHUS is a type of thrombotic microangiopathy (TMA), which is a group of severe and potentially life-threatening rare disorders that cause blood clots and damage to the walls of the smallest blood vessels. This can cause injury to organs, including the kidneys, that may lead to organ failure. aHUS may appear in the presence or absence of a “trigger” or co-existing condition.
GA
Geographic Atrophy (GA)
A chronic and progressive eye disease that causes degeneration of the portion of the retina responsible for central and color vision, leading to visual impairment and loss of mobility. A major cause of blindness, GA is difficult to diagnosis due to a low rate of progression and subtle symptoms. People over the age of 75 are disproportionally impacted by the disease.
gMG
Generalized Myasthenia Gravis (gMG)
A rare, debilitating, neuromuscular autoimmune disorder characterized by a loss of muscle function and severe weakness. Symptoms include slurred speech, double vision, droopy eyelids, lack of balance, difficulty swallowing or choking, extreme fatigue, and respiratory failure.
HSCT-TMA
Hematopoietic Stem Cell Transplant-Associated Thrombotic Microangiopathy (HSCT-TMA)
A rare and severe condition that can present following hematopoietic stem cell transplantation (HSCT), a procedure to treat some types of cancers or other diseases. This condition is a type of thrombotic microangiopathy (TMA), which is a group of severe and potentially life-threatening rare disorders that cause blood clots and damage to the walls of the smallest blood vessels. It is thought that factors associated with HSCT (including conditioning regimens, immunosuppressant therapies, infection and other complications) induce overactivation and/or dysregulation of the complement system, driving HSCT-TMA.
IgA Nephropathy
Immunoglobulin A (IgA) Nephropathy
A renal disease in which locally deposited immune complexes (e.g., immunoglobulin G (IgG) and antigen) lead to activation of the complement cascade and endothelial organ damage, leading to end-stage renal disease (kidney failure), requiring dialysis or transplant.
LN
Lupus Nephritis (LN)
A severe complication of systemic lupus erythematosus (SLE) in which deposits of immune complexes (e.g., immunoglobulin G (IgG) and antigen) accumulate in the kidney and may lead to injury through complement activation. Up to 30% of patients progress to end-stage renal disease (kidney failure) within 15 years, requiring dialysis or transplant.
NMOSD
Neuromyelitis Optica Spectrum Disorder (NMOSD)
A rare, autoimmune disorder of the central nervous system that affects the optic nerve and spinal cord, more commonly in women. The disorder is characterized by unpredictable attacks, known as relapses, that result in cumulative disability, including vision loss, paralysis, and sometimes premature death.
PNH
Paroxysmal Nocturnal Hemoglobinuria (PNH)
A rare, chronic, progressive, debilitating, and potentially life-threatening blood disorder characterized by complement-mediated intravascular hemolysis (destruction of red blood cells in the blood vessels) and thrombosis (blood clots), due to terminal complement activation. Thrombosis can be life-threatening and is the leading cause of death in this disease. PNH can lead to serious health complications, including damage to vital organs, such as kidneys and lungs.
PNH With EVH
Paroxysmal Nocturnal Hemoglobinuria With Extravascular Hemolysis (PNH-EVH)
PNH is a rare, chronic, progressive, debilitating, and potentially life-threatening blood disorder characterized by complement-mediated intravascular hemolysis (destruction of red blood cells in the blood vessels) and thrombosis (blood clots), due to terminal complement activation. EVH can sometimes occur in PNH patients when treated with C5 inhibitors as the now surviving PNH red blood cells are marked by other proteins in the complement system for removal by the spleen and liver. PNH patients with EVH may remain anemic and may require occasional blood transfusions.
Our science wouldn’t be possible without our team of passionate, driven, and dedicated individuals who make up Alexion R&D. Hear from a few of our scientists and leaders about what makes our R&D unique, what motivates them, and how we work each day to help transform patient lives.
CULTIVATING A SCIENTIFIC ECOSYSTEM
Sharon Barr, Ph.D.
Cultivating a Scientific Ecosystem
Sharon Barr, Ph.D., Senior Vice President, Head of Research and Product Development
Sharon is passionate about our pioneering rare disease research, opportunities for collaboration and Alexion’s contributions to the evolving New Haven, CT scientific ecosystem. Sharon’s philosophy is that you can’t do science alone – watch to learn more.
DRIVING ALEXION’S LEADERSHIP IN RARE DISEASE
Moshe Vardi, M.D.
Driving Alexion’s Leadership in Rare Disease
Moshe Vardi, M.D., Vice President, Global Medicine Team Lead
Moshe is advancing the next wave of complement research as the head of Alexion’s Factor D platform. He believes that being a leader in rare disease research comes down to “the three Ps” – patients, people, and platform. Click play to learn more.
DESIGNING CLINICAL TRIALS FOR RARE DISEASES
Laura Gault, M.D.
Designing Clinical Trials for Rare Diseases
Laura Gault, M.D., Vice President, Head of Clinical Development, Neurology & Ophthalmology
Designing rare disease clinical trials requires unique capabilities and expertise. Watch the video to hear Laura’s perspectives on why understanding the patient experience is key to designing scientifically rigorous studies.
EXPLORING THE BOUNDARIES OF SCIENCE
Susan Faas, Ph.D.
Exploring the Boundaries of Science
Susan Faas, Ph.D., Executive Director, Complement Research and Strategy
As an Alexion scientist from 1997 until her retirement in 2022, Susan has a special perspective. She was part of our early, pivotal complement research and today, she continues to lead our efforts to expand our complement portfolio. Watch the video to hear her reflections.
SPARKING OUR ENGINE OF INNOVATION
Paul Tamburini, Ph.D.
Sparking our Engine of Innovation
Paul Tamburini, Ph.D., Executive Director, Global Research Team Lead
Paul knows firsthand that in science, there is no reward without risk. For this reason, he encourages his research team to be bold and pursue novel ideas with strong conviction. Watch to learn more about Paul’s philosophy on innovation.
INNOVATING FOR THE PNH COMMUNITY
Anita Hill, M.D., Ph.D.
Innovating for the PNH Community
Anita Hill, M.D., Ph.D., Vice President, Global Medical Affairs Lead for Hematology & Nephrology
Anita spent 24 years treating patients in the clinic, particularly people living with paroxysmal nocturnal hemoglobinuria (PNH). She then joined Alexion to help this community in a new way. View the video to hear about Anita’s experience and why she is proud to work at Alexion.
DELIVERING HOPE VIA TRANSFORMATIONAL RESEARCH
Rajendra Pradhan, Ph.D.
Delivering Hope Via Transformational Research
Rajendra Pradhan, Ph.D., Executive Director, Clinical & Non-Clinical Pharmacology
Raj joined Alexion because he was inspired by the mission to find solutions for devastating conditions that have few or no available treatment options. Watch to hear more about the challenges that motivate Raj every day to follow the science.
COLLABORATING TO DRIVE SCIENTIFIC ADVANCEMENT
SungKwon Kim, Ph.D.
Collaborating to Drive Scientific Advancement
SungKwon Kim, Ph.D., Research Investigator, Translational Research
SungKwon believes in the power of collaboration to drive innovation. Even as a leader, Alexion can’t do it alone. Watch the video to hear why SungKwon is passionate about scientists partnering together to drive complement research forward.
LIVING WITH HPP
Diversifying for the Future
Our mission of transforming the lives of people living with rare diseases guides our research and development efforts. We’re applying our expertise beyond complement to deliver innovations for even more patients.
Amyloid Light Chain (AL) Amyloidosis
Amyloid light chain (AL) amyloidosis is a rare disease where proteins that function as antibodies, also known as immunoglobulins, are produced abnormally by defective plasma cells in the bone marrow. These abnormal proteins misfold and clump together to form toxic amyloids and may deposit in tissues and/or organs. Amyloid can buildup in many organs, particularly in the heart and kidneys, which can result in significant organ damage and organ failure that may ultimately be fatal.
Alexion’s research teams are working to uncover new insights about AL amyloidosis with the goal of delivering a transformational medicine to people living with the condition.
Diversifying
Beyond
Complement
We are dedicated to building upon our trailblazing science in rare disease to translate emerging science into transformational medicines for even more patients.
AL Amyloidosis
Amyloid Light Chain (AL) Amyloidosis
A rare disease where abnormal antibody (immunoglobulin) proteins are produced by defective plasma cells in the bone marrow. These abnormal proteins misfold and clump together to form amyloids and may deposit in tissues and/or organs. Amyloid buildup in organs, particularly in the heart and kidneys, can result in significant organ damage and organ failure that may ultimately be fatal.
ATTR-CM
Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)
A progressive, rare disease where transthyretin (TTR) proteins, which are responsible for transporting thyroid hormone and vitamin A in the blood, become unstable, break into parts, and form protein or “amyloid” deposits in the heart. Typical symptoms are similar to those associated with heart failure, including shortness of breath, edema (swelling of the legs), and atrial fibrillation and may be fatal if not treated.
HPP
Hypophosphatasia (HPP)
A rare, genetic disease characterized by impaired bone mineralization (“calcification”), the process that hardens and strengthens bones and teeth. This can lead to poor growth and development, deformity of bones, muscle weakness, pain, premature loss of teeth with the root intact, and other skeletal and non-skeletal abnormalities. As a result, the disease can have a debilitating impact, including loss of physical function.
NF1 PN
Neurofibromatosis Type 1 (NF1) Plexiform Neurofibromas (PN)
A rare, progressive, genetic condition characterized by non-malignant (non-cancerous) tumors called plexiform neurofibromas (PN) that develop in the brain, and along the spinal cord and nerves. Potential complications of PNs include itching, physical deformities, and organ dysfunction, which may lead to trouble breathing, visual impairment, and bladder and bowel problems, among other challenges. Although PN may start as non-malignant, a small proportion (~10%) will later in life become malignant (cancer).