The Rare Diseases We Don't Know About – And the Research That Impacts Us All
Around 7,000 rare diseases affect approximately 300 million people worldwide, yet most patients struggle to receive accurate diagnoses or effective treatment
Dr. Einat Zalckvar, a leading expert in genetic disorders at Bar-Ilan University, explains how a chance encounter with one family changed her biomedical research and why rare disease awareness should matter to everyone.
Rare Diseases: A Hidden Global Health Crisis
The term "rare diseases" might be misleading. While each condition affects a relatively small number of people, together, they impact millions globally. Despite this, 95% of these diseases lack approved treatments, and many haven’t even undergone basic medical research.
"Rare diseases represent one of the greatest challenges in modern medicine," says Dr. Einat Zalckvar from the Faculty of Life Sciences at Bar-Ilan University.
"On one hand, our understanding of molecular biology and biotechnology advancements is expanding rapidly. Yet, on the other hand, millions of patients remain invisible to the healthcare system and pharmaceutical industry due to the limited focus on orphan diseases."
A Chance Encounter That Changed a Career in Precision Medicine
Today, Dr. Zalckvar leads an innovative precision medicine research group focusing on rare genetic disorders, but this wasn’t always her plan.
"About 11 years ago, I joined Prof. Maya Schuldiner’s lab at the Weizmann Institute, where I conducted fundamental research on peroxisomes—tiny organelles responsible for breaking down fats and detoxifying cells," she recalls.
While her research was scientifically groundbreaking, it remained distant from the human impact of these conditions. That changed five years ago, when she participated in a volunteer program for high school students in Rehovot, her hometown.
"It was the first time I met a family struggling with a rare disease. Suddenly, my work wasn’t just about scientific curiosity—it was about real people fighting disorders without solutions."
This pivotal moment shifted her focus toward biomedical innovation in rare disease research.
"I realized that as scientists, we can’t stop at understanding biological mechanisms. We need to turn knowledge into practical tools for genetic diagnosis and treatment development."
In October 2023, she founded a dedicated research group at Bar-Ilan University, collaborating with physicians, biotech startups, and families affected by rare diseases.
Why Rare Disease Diagnosis Is So Challenging
One of the biggest obstacles in treating rare genetic disorders in Israel is the lack of an official definition.
"In many countries, there are clear criteria defining what qualifies as a rare disease, but Israel has yet to establish an official classification," explains Dr. Zalckvar.
"Without this, it’s difficult to secure research funding, approve rare disease treatments for health insurance coverage, and develop targeted support programs."
Another major issue is delayed diagnosis.
"The process can take years, during which patients undergo multiple tests and often receive incorrect diagnoses. Even when a correct diagnosis is made, there is still a severe lack of information and available treatments," she adds.
However, rather than seeing rare diseases as an unsolvable problem, Dr. Zalckvar believes they present an extraordinary scientific opportunity.
"These disorders function as biological and physiological extremes. Understanding their molecular basis helps us develop breakthrough treatments not only for rare disease patients but also for more common medical conditions like cancer, metabolic disorders, and neurodegenerative diseases. In fact, some of the most significant discoveries in molecular biology originated from rare disease research."
A Vision for the Future: The First Online Hub for Rare Disease Patients
Every year, Rare Disease Day is observed on the last day of February, serving as an opportunity to increase awareness and advocate for better healthcare policies.
"This day reminds us that while these patients may be classified as 'rare,' they are far from few," says Dr. Zalckvar.
A major milestone in rare disease awareness in Israel was achieved last year, with the launch of the country’s first online platform dedicated to rare genetic disorders.
This project, created in collaboration with Prof. Ayelet Erez and Prof. Maya Schuldiner from the Weizmann Institute and Dr. Einat Zalckvar from Bar-Ilan University, provides comprehensive medical information on rare diseases prevalent in Israel, including:
- Patient advocacy organizations
- Specialized physicians
- Leading medical researchers
Medical students from various Israeli universities have contributed by writing detailed disease profiles and recently began translating content into Arabic to make information more accessible to Arabic-speaking patients and families.
"Our dream is for this platform to become the first resource patients turn to after receiving a diagnosis," says Dr. Zalckvar.
"A place where they can find reliable medical information, emotional support, and direct connections to the best specialists."
The Future of Rare Disease Treatment and Biomedical Innovation
Despite the challenges, Dr. Zalckvar remains optimistic about the future of rare disease treatment.
"I believe that within the next decade, thanks to new precision medicine technologies, we will see major advancements in genetic diagnosis, personalized treatment options, and even curative therapies for many rare diseases."
However, she stresses that government investment and healthcare policy reforms are essential.
"We need a system that supports patients, accelerates diagnostic processes, and encourages research and development. Without structured biomedical innovation initiatives, many patients will continue to be left behind."
As awareness grows and scientific breakthroughs continue, rare diseases may finally receive the attention they deserve—not just benefiting those affected, but transforming the entire field of medicine.