Genetic Care for Every Age

Genetics plays a foundational role in many conditions, and understanding the genetic underpinnings allows us to unify complex symptoms, leading to clearer diagnoses, personalized treatment plans, and early intervention that maximize long-term outcomes. Whether working with children, adults, or during prenatal care, our focus is on complex genetic conditions that may elude other practitioners. Our approach offers a lifelong partnership in genetic health. We collaborate with families to ensure that genetic factors are considered in healthcare decisions at every stage of life.

Neurodevelopmental Disorders

Autism Spectrum Disorder

Ophthalmic Genetics

Hereditary Hearing Loss

Connective Tissue, Bone Health, and Hypermobility Disorders

Short stature conditionS

Overgrowth and Obesity Conditions

Cardiogenetics

Nephrogenetics

Dermatogenetics

Multiple/Complex Congenital Difference

Preconception and prenatal Genetics Consultation 

Cancer Genetics  

Longevity Medicine

Clinical Genomic And Risk Assessment Screening

By choosing a genetic specialist, you are not just receiving a diagnosis, you are gaining a comprehensive, expert understanding of your health or your child’s health, with the right tools to address complex genetic concerns that can impact long-term well-being.

MEET YOUR PHYSICIAN

Sophia Bous Hufnagel, MD
Medical Geneticist

About Me

I am one of four siblings and the daughter of two mechanical engineers who instilled in me a deep sense of responsibility to give back lovingly to our communities. I double majored in Biological Sciences and Philosophy, drawn to the intersection of how things work and why they are the way they are. The beauty and science of life have always moved me. I'm fascinated by how a single cell unfolds into a unique human being and by how biochemical pathways and the genetic code orchestrate growth and development. My background in philosophy has deeply shaped how I think about medical decision-making, patient autonomy, and the ethical dimensions of care, especially in the context of uncertainty, complexity, and rare diseases.

I earned my Medical Degree with a focus in Global Health and Medical Ethics, deepening my commitment to equitable, informed care for patients of all backgrounds. I completed residency and fellowship training in Pediatrics and Medical Genetics, and I am board certified in both Pediatrics and Medical Genetics and Genomics, serving both children and adults. In addition to my work in clinical genetics, I have several years of experience as an attending physician in developmental pediatrics, with a focus on autism evaluations and supporting children with developmental differences. I have also worked at the U.S. Food and Drug Administration in rare disease advocacy and drug development, where I collaborated across sectors to help move the field forward and advance treatment options for those living with rare conditions.

About My Practice

As a Pediatrician and Medical Geneticist with additional training in developmental pediatrics and autism assessment, my mission is to compassionately support children, adults, and families affected by rare and complex conditions. I aim to make healthcare both safe and meaningfully effective, offering clarity in the midst of medical uncertainty.

Genetic conditions can be overwhelming and often misunderstood. My goal is to provide thorough, thoughtful, and accurate evaluations that bring clarity to complex or scattered symptoms, helping to create a more cohesive understanding and identify the most appropriate next steps in care. As a mother myself, I understand the weight of uncertainty when it comes to your child’s health and development, and I bring both medical expertise and deep empathy to every interaction. What I find most rewarding is partnering with patients and families to demystify the diagnostic process and empower them with the insight they need to move forward with greater confidence.