Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center have proudly received the designation as a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD). This recognition solidifies the academic medical center’s position within NORD’s collaborative network of 40 esteemed institutions dedicated to researching and treating rare diseases. The designation highlights Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center’s commitment to providing comprehensive healthcare for patients with rare diseases.
A Collaborative Network for Progress
Dr. Omar Abdul-Rahman, chief of the Division of Medical Genetics in the Department of Pediatrics at Weill Cornell Medicine and NewYork-Presbyterian Komansky Children’s Hospital, and director of clinical genomics for women’s and children’s health at Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center, played a pivotal role in leading the rigorous application process that led to this designation. This achievement now allows the medical center to be part of a unique network of institutions dedicated to delivering exceptional treatment to individuals with rare diseases.
The collaboration among participating institutions within the NORD network extends beyond treatment, aiming to improve standards of care, advance research, and increase awareness about rare diseases in the wider medical and patient community. By fostering this collaborative effort, the network aims to establish a national infrastructure that can effectively address the challenges faced in the field of rare disease research and treatment.
Uniting Against Rare Diseases
Rare diseases are often genetic conditions, accounting for approximately 85% of all cases. With a human genome consisting of 20,000 genes, scientists have only begun to understand roughly 7,000 of them, leaving the potential for the discovery of new rare diseases caused by the remaining 13,000 genes. This underscores the importance of ongoing research and collaboration in the field of rare diseases.
In the past, patients and their families would endure long waiting periods to see a geneticist, and additional delays would occur while waiting for genetic testing results. However, advancements in technology, such as whole genome sequencing, have significantly reduced turnaround times. Physicians can now analyze an individual’s entire genome in a single test, leading to faster and more accurate diagnoses. Dr. Abdul-Rahman envisions a paradigm shift in healthcare delivery, where patients can receive a diagnosis within a matter of weeks, rather than waiting for years.
The Impact of Rare Disease Centers of Excellence
Rare Disease Centers of Excellence play a crucial role in uniting institutions focused on studying and treating rare diseases. Their collaborative efforts are vital in creating a national infrastructure capable of addressing the unique challenges associated with rare diseases. One of the major barriers to developing treatments for rare diseases is the relatively small number of affected individuals. Diseases affecting less than 200,000 people are classified as rare, making it challenging for pharmaceutical companies to invest in potential treatments. However, NORD’s network brings together a sufficient number of patients to conduct clinical trials across multiple institutions, creating the necessary conditions for pharmaceutical companies to invest in the development of treatments for rare diseases.
The Urgent Need for Action
Rare diseases have a significant impact, affecting up to 30 million Americans, or approximately one in ten individuals. Globally, rare diseases affect 350 million people of all ages. Despite these staggering numbers, 95% of rare diseases still lack effective treatments. This underscores the urgency to address the unique challenges faced by individuals with rare diseases and their families.
Dr. Abdul-Rahman, a renowned expert in the field, acknowledges the therapeutic challenges posed by rare diseases. As the Horace W. Goldsmith Foundation Professor of Pediatrics at Weill Cornell Medicine and a member of the NORD Rare Disease Centers of Excellence Advisory Committee, he is committed to advancing research, improving access to care, and increasing the number of trained rare disease professionals.
Ensuring Access and Trusted Care
Individuals with rare diseases often face difficulties accessing the best care and appropriate treatments. The scarcity of patients with rare diseases makes it challenging to establish specialized centers and allocate resources accordingly. However, Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center are committed to ensuring ease of access for patients. They welcome all inquiries, confirming diagnoses, establishing treatment plans, and becoming a trusted medical home for patients throughout their healthcare journey.
In conclusion, the designation of Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center as a Rare Disease Center of Excellence by NORD highlights their commitment to comprehensive healthcare for individuals with rare diseases. By fostering collaboration among institutions and addressing the unique challenges faced by rare disease patients, these institutions are at the forefront of medical and scientific breakthroughs. With the urgency to develop effective treatments for rare diseases, the collective efforts of healthcare professionals, researchers, and organizations like NORD pave the way for a brighter future for individuals affected by these conditions.
