PTC was founded in 1998 by a scientist with a desire to serve patients with rare diseases and unmet medical needs. Over the course of our history, we have grown to a team of more than a thousand employees and developed new innovative therapies. However, we’ve always maintained our foundational commitment to our patients and their caregivers.

Here is a collection of inspirational stories we’ve been able to amass along our journey partnering with the brave, strong people of the rare disease community.


Anne Bruns Patient Engagement Liaison, Clinical

For Anne, It’s Personal

Anne Bruns is a patient advocate at PTC, but she’s also a rare disease mom. Her story is one of resilience; and she brings this heroic force to her work helping patients in our clinical trial programs.

Anne is also looking to connect with new patients and caregivers because she knows that every rare disorder story is important and unique.

Share Your Story


Danya and Marharyta

Celebrating #DuchenneCan

Duchenne muscular dystrophy is a rare disease that affects an estimated 20,000 new babies around the world, each year. Read about Bjorn, Christopher, Marharyta and others who demonstrate in their work and their lives just how much people with Duchenne CAN do!

Read Their Stories


Jillian and Kelly Heger

Promoting AADC Awareness

Aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare disorder that is difficult to diagnose. It manifests with several symptoms, usually identifiable in infancy, including poor muscle tone, involuntary eye movements, drooling and more.

In 2020, PTC supported patient advocacy partner the AADC Family Network with its sponsoring of the first AADC Deficiency Awareness Day (October 23). We repeated these efforts in 2021. We are truly heartened by the tremendous feats of courage shown by founder and AADC parent Kelly Heger, her heroic family, and her daughter Jillian, who is afflicted with AADC deficiency.

Learn About This Historic Day


Developing a Therapy for SMA

PTC partnered with the SMA Foundation to develop a small molecule treatment for spinal muscular atrophy (SMA). After many years of research and development, we experienced a collective success that could not have been possible without camaraderie with patients and patient advocates.

Watch the Video


Working to Reduce Seizures

Developing treatments for rare diseases can be difficult, but no less rewarding than developing therapies for diseases that affect millions. At the end of the day, PTC is working to bring more precious moments to people – we’re people working for people.

The Mit-E Study team exemplifies this approach when it comes to helping patients with mitochondrial disease.

Meet the Mite-E Study Team


Anu Bhattacharyya, Ph.D.

Racing to Treat Huntington Disease

Our scientists talk about feeling “honored” to do their work at PTC – honored because they recognize the struggles endured by members of the rare disease community, and because those brave people have placed their trust in our team.

Meet Anu and Brian and learn how they kept patients top of mind when transitioning Huntington Disease (HD) research into clinical development.

Watch the Race

At PTC, we are committed to our mission, to our science and to our patients. Learn more across our website, or follow us on social media to keep in touch.

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