Pharmafile Logo

From Genetic Puzzles to Precision Therapeutics

December 23, 2025 |  

How was a new rare disease discovered through Singapore’s Undiagnosed Disease Program? And how will technology allow us to change how we discover rare diseases in the future? Read more to find out.

soumya headshot

A/Prof Saumya Jamuar
Senior Consultant, Genetics service, KK Women’s and Children’s Hospital
Director, SingHealth Duke-NUS Institute of Precision Medicine
Lead Principal Investigator, Singapore Undiagnosed Disease Programme

christy headshot

S.Christy Rohani-Montez
Senior Director of Clinical Strategy
Rare Disease Education Lead
Medscape Education

Christy: I’m so excited to be in Singapore speaking with you Saumya, about Singapore’s Undiagnosed Disease Program.

Can you tell me first a little about yourself and how you got into rare diseases?

Saumya: Sure, so I’m a pediatrician and clinical geneticist at KK Women’s and Children’s Hospital. Since I was young, I’ve loved puzzles. To me, a patient with a rare disease is a puzzle with multiple pieces that need to be put together. I saw that as I was training in pediatrics where I would see patients being managed by the cardiologist, the neurologist, the gastroenterologist, and more. They would each be focusing on their specialty, and I found myself taking a step back and asking, “Hey, are these issues all connected in some way?”

That’s where I realized rare diseases play a part, because these rare diseases tend to connect the different organ systems and specialties. That passion for puzzle-solving got me into this field. What propelled it further was the pediatric setting, because the stakes are much higher for children. Once you get an answer and have that “aha” moment where it all makes sense, that brings so much joy into the work and accelerates the desire to continue.

Christy: Tell me about the condition named after you and the program behind it?

Saumya: I established Singapore’s undiagnosed disease program, which we call BRIDGES (Bridging Research Innovations for the Diagnosis of GEnetic Diseases in Singapore), to connect patients with genomic technologies. One of our first major successes came when 2 siblings were referred to my clinic with epilepsy and developmental delays where their speech was more affected than their motor skills. Standard tests were all negative, so we enrolled them in BRIDGES where we performed whole exome sequencing with our collaborators at A*STAR (Singapore’s Agency for Science, Technology and Research), and identified a novel variant in a gene called UGDH.

The product of UGDH is an enzyme that’s critical for building the structural matrix of the brain. You can imagine if the matrix isn’t there, the circuitry is missing. The brain is just a lot of wires, and if the wires aren’t connected properly, that’s when things go haywire. This led to the phenotype we were seeing: epilepsy and developmental delays. We reached out to our global network and found 18 other families with similar features and variants in the same gene. Through lab work with patient cells and cerebral organoids, we proved this was the cause and had discovered a new disease, which was named after me, the Jamuar Syndrome, and is also known as UGDH-related disorder.

Christy: What has the BRIDGES program achieved since then?

Saumya: We have successfully recruited over 850 families over the last decade, and have steadily improved our diagnostic yield from about 30% to 49%, comparable to international benchmarks. Beyond the diagnosis itself, the results have a profound impact. All families receive precise genetic counseling, and in 80% of cases, we can stop the “diagnostic odyssey” of endless tests.

Most importantly, in 27% of our diagnosed cases, there has been a direct impact on each patient’s medical management. For example, one child was hospitalized for her entire first year of life with multiple infections. An exome sequence revealed an immune dysregulation that could be treated with a bone marrow transplant. She finally went home. This was our first real foray into precision therapeutics, where knowing the exact genetic pathway allowed us to provide a targeted, life-changing treatment.

Christy: What are your long-term goals for the future?

Saumya: We are focused on 2 key areas. Firstly, we are expanding access to genomics to underserved regions in Southeast Asia through our Genomics for Kids in ASEAN initiative, generously supported by the Temasek Foundation.

Secondly, we are looking ahead to the next decade, which will be all about therapeutics. Today, only 5% of rare diseases are treatable. To change that, we are developing a therapeutic platform. Instead of a slow, single-gene, single-disease approach, we want to categorize conditions based on their functional outcome—for example, is the protein absent or is it dysfunctional? Then, we can match the problem to a class of solutions (like gene replacement or gene editing) and a delivery system that can target the affected organ. This creates a systematic, 3-dimentional matrix to treat many more patients at a much faster rate and probably at lower costs.

Christy: Your work is incredible, thanks so much for speaking with me today!

For more information, please contact Christy Rohani Montez PHD –
srohani@medscape.net

About Medscape Education

Medscape Education (medscape.org) is the leading destination for continuous professional development, consisting of more than 30 specialty-focused destinations offering thousands of free CME and CE courses for physicians, nurses, and other healthcare professional

This content was provided by Medscape Education

Company Details

 Latest Content from  Medscape Education 

Women in Healthcare Leadership Have a Lot to Say. Medscape’s Hear From Her Wins an APEX Grand Award.

Medscape Education has been honoured with the prestigious APEX Grand Award for Publication Excellence at...

Moving Beyond the 10%: A New Era in Preterm Birth Prevention

For decades, the rate of spontaneous preterm birth in the United States has hovered stubbornly around 10%. Despite advancements in other areas of medicine, prematurity remains the second leading cause...

Medscape Education to Showcase the Impact of Neurology CME at EAN 2026

Medscape Education, the leading global provider of continuing medical education (CME), has announced its agenda for the upcoming 12th Congress of the European Academy of Neurology (EAN) 2026 in Geneva,...

Medscape Education Recognized With 2 Spring 2026 Digital Health Awards for Excellence in Clinical Education

Medscape Education has been recognized with 2 prestigious accolades at the Spring 2026 Digital Health Awards. The premier digital education platform earned a Gold Award for its PIONEER initiative in...

Medscape Education Brings AI to the Hematology Frontline at EHA 2026

Medscape Education is supporting a dedicated AI symposium at the 2026 European Hematology Association (EHA) Annual Congress in Stockholm on June 11, 2026.

The Ripple Effect: Why Connection is the Heart of Healthcare Leadership

In the fast-paced environment of clinical medicine, it is easy to focus solely on data and outcomes. However, as Dr. Toyin Nwafor (Gilead Sciences) and Dr. Shirin Mazumder (University of...

Beyond the Nudge: Why Mentorship is the New Healthcare Currency

In the latest episode of Hear From Her, the conversation centers on a striking reality: women in healthcare often face a "confidence gap" that their male counterparts do not. While...

Three Symposia, Three Years of Fellows, One Mission: Medscape Oncology at ASCO 2026

Three symposia. A third year of Fellows. AI live on the booth floor. Medscape Oncology arrives at ASCO 2026 (Booth #10099) with another ambitious oncology program.

How Sweet It Is: Medscape at ADA 2026

The energy is building as we prepare to head to New Orleans, LA, for the annual scientific sessions of the American Diabetes Association from June 4-8. The Medscape Diabetes and...

Keep the Beat Going: Education and Impact at the European Society of Cardiology Heart Failure Congress 2026

Did you know? Over 320,000 learners have engaged with heart failure content on Medscape. With such an enthusiastic audience for our education, we’re thrilled to be joining cardiology professionals from...