How I Found My Path in Medical Genetics

How I Found My Path in Medical Genetics

I’m often asked, “Why did you choose Medical Genetics?” The answer takes me back to my childhood, to a home where compassion and curiosity were part of everyday life. My mother was the founder of a charity for children with congenital blindness, and from an early age I saw the profound difference a single diagnosis — or the absence of one — could make for a family.

I remember her organising events, travelling to remote areas, and advocating for children who had never been given a clear explanation for their condition. Many families simply accepted blindness as fate — but I couldn’t stop asking myself: Why did this happen? Could it have been prevented? Could it occur again within the same family?

Those questions never left me. By the time I reached university, I knew I wanted to devote my life to finding answers for families facing rare and often misunderstood conditions. That path led me through medical training, a PhD in Medical Genetics, collaborations with leading research centres such as UCL, and the privilege of working with patients from across the globe.

Today, I specialise in rare diseases, hereditary cancer syndromes, and reproductive genetics — yet my motivation remains the same as it was when I was a curious child observing my mother’s work: to bring clarity, hope, and better outcomes to families through the power of genomic medicine.

Academic Pathway and Professional Training

The questions that had taken root in childhood did not fade as I entered higher education. Instead, they grew sharper, guiding me towards a discipline that could provide the answers I sought. At university, what had once been a child’s curiosity developed into a firm intellectual commitment: to dedicate myself to the study of Medical Genetics, both as a clinician and as a researcher.

My journey began in medical school, where I gained not only a grounding in the fundamentals of human health but also a deeper appreciation for the complexity of inherited conditions. That foundation propelled me into doctoral research, where I pursued a PhD in genetics. Here, I had the privilege of investigating rare and often poorly understood conditions, contributing to a growing body of knowledge that has direct implications for patient care.

Along the way, my academic path was enriched by collaborations with world-renowned centres of excellence, including University College London. These experiences did more than shape my technical expertise; they connected me with a global community of scientists and clinicians united by a common purpose — to translate genetic discoveries into tangible benefits for patients and families.

Rare Disease Gene Hunts — Uncovering the Unknown

Much of my research has centred on the quest to identify genes responsible for rare, and often ultra-rare, disorders. Many of these studies focus on consanguineous families from the Middle East and beyond, where unique genetic patterns can reveal previously unknown causes of disease.

This work is far more than an academic exercise. Every gene we uncover provides doctors with the ability to offer families long-awaited answers, to guide precise genetic counselling, and, in some cases, to point towards targeted therapies. By delving into these genetic mysteries, we not only advance scientific understanding but also deliver real-world impact, bringing clarity and hope to families navigating the uncertainties of rare conditions.

For a full view of my research contributions, my publications can be found on Google Scholar.

Research Highlights — Landmark Discoveries in Rare and Hereditary Diseases

Over the past decade, my research has focused on uncovering the genetic causes of rare and hereditary disorders. Each discovery has the potential to provide families with clarity, guide clinicians, and open new avenues for treatment. Here are some of the key studies that define my work:

 1. GRIA2 Mutations and Neurodevelopmental Disorders

Nature Communications, 2019 — cited nearly 250 times
I co-authored this landmark study identifying de novo mutations in the GRIA2 gene as a cause of intellectual disability and developmental delay. Functional assays demonstrated how these mutations impair AMPA receptor function, directly affecting neuronal communication. This discovery has established GRIA2 as a key gene in neurodevelopmental disorders, offering families new diagnostic answers and inspiring further research globally.

2. IARS2 and Mitochondrial Disease

Journal of Medical Genetics, 2024
As the corresponding author, I led research expanding the clinical spectrum of IARS2-related mitochondrial disease. Our findings enable earlier recognition of this condition and improved diagnostic precision, which is crucial for patient management and genetic counselling.

3. ACBD6 Variants and Progressive Cerebellar Atrophy

Brain, 2023
In this study, we discovered biallelic variants in ACBD6 causing a neurodevelopmental disorder characterised by progressive cerebellar atrophy. This work links ACBD6 to a distinct neurological phenotype, providing insights for clinicians and families dealing with this rare condition.

4. ACAD9 and Mitochondrial Myopathy

Human Genetics and Genomics Advances, 2024
We refined the clinical spectrum of ACAD9-related mitochondrial disease, allowing for precise genotype–phenotype correlations. These insights improve patient care and guide future research toward targeted therapeutic strategies.

5. Stickler Syndrome (COL9A3)

European Journal of Human Genetics, 2021
I reported one of the first cases of Stickler syndrome caused by mutations in COL9A3. This study expanded our understanding of collagen-related connective tissue disorders, offering new guidance for diagnosis and management.

 Why These Discoveries Matter

Each of these studies represents more than scientific publications — they translate genetic insights into real-world impact. Families gain clarity, clinicians receive actionable guidance, and the scientific community builds on a foundation that can ultimately lead to better treatments and outcomes. My work continues to focus on connecting genomic discoveries with tangible benefits for patients worldwide.

Global Collaborations — Bridging Science and Patient Care

Throughout my career, I have been fortunate to collaborate with outstanding teams at institutions such as University College London, Newcastle University, and other international research centres. By combining large-scale genomic datasets with meticulous clinical analysis, we work to unravel the genetics behind rare and often complex disorders.

Hover over each box to learn how collaborations create impact!

Cutting-Edge Research

Advancing science through joint studies.

Collaborations allow us to combine data, expertise, and technology to accelerate discoveries in rare and complex genetic disorders.

Bridging Lab & Clinic

Turning research into real-world solutions.

These collaborations ensure that genetic discoveries are directly applied to diagnosis, treatment, and patient care strategies.

Impact on Families

Improving lives through genetics.

Every discovery has the potential to improve diagnosis, guide treatments, and ultimately enhance the lives of families affected by genetic disorders.

Global Knowledge Sharing

Building a worldwide network of expertise.

Working with international partners helps us exchange knowledge, strengthen research capacity, and bring innovations to patient care faster.

From data to diagnosis, from lab to life. These collaborations are the key to transforming scientific discoveries into meaningful patient outcomes worldwide.

Global Collaborations — Bridging Science and Patient Care

Throughout my career, I have been fortunate to collaborate with outstanding teams at institutions such as University College London, Newcastle University, and other international research centres. By combining large-scale genomic datasets with meticulous clinical analysis, we work to unravel the genetics behind rare and often complex disorders.

These collaborations are more than research partnerships; they bridge the gap between laboratory discoveries and real-world patient care. Every finding has the potential to inform diagnosis, guide treatment decisions, and ultimately improve the lives of families affected by rare diseases.

Why Medical Genetics Matters

Medical Genetics is far more than an academic discipline; it is a lifeline for families seeking understanding and direction. By uncovering the underlying causes of rare and hereditary conditions, genetics provides clarity where uncertainty once prevailed. It offers the potential for prevention, informs decisions around family planning, and equips individuals and clinicians alike with the knowledge to manage conditions that might otherwise have been accepted as inevitable. In essence, Medical Genetics transforms uncertainty into empowerment, giving families the insight to make informed choices and the hope for a brighter future.

Looking Ahead — The Future of Genomic Medicine

With the rapid advancement of genomic technologies, the possibilities for earlier diagnosis, precision therapies, and truly personalised care are expanding at an unprecedented pace. Yet, despite these technological strides, my guiding principle remains unchanged from my childhood: to bring clarity, hope, and improved outcomes to families through the combined power of science and compassion. As we continue to unravel the complexities of the human genome, my ambition is to ensure that each discovery translates into tangible benefits — not just for research, but for the lives of the individuals and families we serve.