Genetic Alliance

05/09/2026

At the 10th Annual Rare Disease Symposium of the Eva Luise and Horst Köhler Foundation for People with Rare Diseases, Sharon Fontaine Terry, President and CEO of Genetic Alliance, delivered the opening keynote: From Silos to Systems – A Vision for the Future of Rare Disease Medicine .

Joining the audience in Berlin remotely after unexpected travel woes, Sharon shared both personal and professional perspectives shaped by her journey as the parent of two children with a rare disease.

Her message: the greatest challenge in medicine is no longer a lack of knowledge, but a failure to connect what we already know. Research, clinical care, data, and lived experience too often remain fragmented, leaving patients and families to bridge the gaps themselves.She challenged the field to move beyond token engagement toward true partnership with patients and families: We are tired of being engaged. We want to be married!

Through initiatives such as , Sharon highlighted models that are already being implemented. Digital infrastructures such as Digital Cabinet, powered by Aretetic Solutions, enable families to manage their own health data and use it specifically for research and care. This shifts control from the system to the people themselves.

Her core message: The necessary tools and concepts already exist. The essential step now is to connect them consistently and advance them together.

Read more 👉 : https://lnkd.in/dWrBUkJq

04/16/2026

Dubai Health joins iHope as the first laboratory partner in the Middle East, marking a significant step toward bringing genomic testing closer to patients and families who need it most.

Dubai Health will be the first international lab partner supporting in-country testing for a clinical site. By reducing the need for cross-border sample shipment, we’re not just improving efficiency, we’re accelerating answers for children with suspected rare genetic diseases.

As part of the growing iHope network which now includes 6 laboratories and 26 clinical sites across 15 countries this collaboration reflects a broader shift toward a globally connected, locally rooted model for rare disease diagnosis.

Placing testing closer to the point of care improves coordination and shortens the time to diagnosis for families who have already waited too long.

We are proud to be part of building a more equitable and scalable future for genomic medicine.

https://www.einpresswire.com/article/906003454/dubai-health-joins-ihope-as-first-laboratory-partner-in-the-middle-east

Illumina Sharon Fontaine Terry Dubai Health

Partnership marks iHope’s first in-country testing arrangement, reducing logistical barriers and accelerating access to genomic diagnosis

04/10/2026

Thank you Rare Disease Advisor for this incredible feature!

Discover how the Genetic Alliance is transforming healthcare and supporting families with rare disease programs.

04/07/2026

Genetic Alliance has appointed Jennifer Troyer as Director of Global Genomics. Welcome, Dr. Troyer!

Jennifer Troyer brings more than a decade of leadership in genomics research administration and global health initiatives. She most recently served as Director of the Division of Extramural Operations at the National Human Genome Research Institute (NHGRI), where she led efforts to coordinate research funding, policies, and programs supporting genomic science worldwide. She played key roles in major global programs such as the Human Heredity and Health in Africa (H3Africa) initiative, which advances genomic research and infrastructure across the African continent.

"Jennifer Troyer, iHope, and Genetic Alliance make a fabulous combination! Jen's contributions to global health research through H3Africa were a major reason the program was so successful. I look forward to seeing how her vision and energy can further enhance global genomics at the Genetic Alliance, at a time where non-governmental research support is needed more than ever," said Francis Collins , former director of the The National Institutes of Health.

In her new role, Dr. Troyer leads Genetic Alliance’s global genomics strategy, strengthening partnerships across sectors and expanding initiatives that connect genomic research with patient communities. This includes advancing programs like iHope, which leverages genomic sequencing and global collaboration to provide diagnoses for families affected by rare and undiagnosed genetic conditions—often offering long-sought answers and opening pathways to care and support.

Read more here: https://lnkd.in/g-QPpQkn

Our continued thanks to Founding Partner Illumina, and The Helmsley Charitable Trust The Helmsley Charitable Trust, PacBio, and Alexion Pharmaceuticals, Inc. for their support.

04/03/2026

iHope Insights: An iHope Newsletter -

At Genetic Alliance, we are advancing our flagship initiative, the iHope program, which provides no-cost clinical genomic sequencing to children with suspected genetic diseases who might otherwise never receive a diagnosis. Across low- and middle-income countries, this work is not only philanthropic...

03/30/2026

Sharon F. Terry's full talk from the ACMG 2026 meeting is now available! Thank you ACMG - American College of Medical Genetics and Genomicsfor supporting equity in access to this inspiring session by making it publicly available.

Illumina

New on the ACMG YouTube Channel: The Ted-Style Talks session from ! Hear three expert perspectives on “Advancing Genomics Engagement” and promoting interest in through mentorship and collaboration. Watch: https://tinyurl.com/TEDACMG26

Speakers Include:
• Ross A. Rowsey, PhD, FACMG (Mayo Clinic)
• Shoumita Dasgupta, PhD (Boston University)
• Rebecca C. Ahrens-Nicklas, MD, PhD, FACMG (University of Pennsylvania)
• Sharon F. Terry, MA (Genetic Alliance)

03/27/2026

In The Pathologist, Dr. Ryan Taft, Chief Scientific Officer at Genetic Alliance and Dr. Stacy Musone, Head of Global Market Development at PacBio, discuss the diagnostic odyssey of rare diseases and how advanced genomics could improve diagnostic yield.

Over the past decade, next-generation sequencing has advanced rare disease diagnostics, yet many cases remain unresolved. Bridging this gap requires not only cutting-edge tools, but also integrated approaches to data, interpretation, and global collaboration.

Read the full Q&A here 👉 https://bit.ly/4teKth0

03/25/2026

Collaboration is essential to advancing progress for rare diseases.

Genetic Alliance CEO Sharon F. Terry attended the International Rare Diseases Research Consortium (IRDiRC) Assembly and Scientific Committees Meeting in Sofia, Bulgaria, contributing the perspectives of Genetic Alliance, the iHope program, and most importantly, the patient and family communities we serve.

Day one focused on the growing role of National Mirror Groups and how this model can be expanded worldwide, alongside committee discussions to align priorities and develop shared action plans.

The second day highlighted the critical role of patient partnerships in shaping research funding and regulatory decisions. Participants also examined advances in orphan drug platforms, the ethical use of AI-driven tools, and evolving regulatory pathways to bring new therapies to patients more efficiently.

By working together globally, we move closer to faster diagnoses, better treatments, and improved care for people living with rare diseases. Genetic Alliance offers a unique and important voice in these discussions, and we were delighted to contribute!

03/17/2026

Why do we do this work?

At the ACMG - American College of Medical Genetics and Genomics 2026 Annual Meeting, Sharon F. Terry delivered a powerful plenary that reminded us.

Through her personal story, she asked the audience to pause and remember a moment when they felt compelled to alleviate suffering for another person. That instinct - to help, to find answers, to reduce uncertainty - is what draws so many of us to medical genetics and other helping professions

Sharon also highlighted iHope, a cornerstone program of Genetic Alliance, which works with a global network of clinicians, laboratories, and technology partners to bring genomic sequencing to families who would otherwise have no access. Our hope is that by providing precision diagnostics to those who need them, iHope will help to alleviate the suffering of families impacted by genetic disease.
Illumina

03/15/2026

A milestone moment for iHope! We convened the first in-person iHope Network meeting during the ACMG - American College of Medical Genetics and Genomics 2026 Annual Meeting. Members- including representatives from clinical sites, laboratory partners, and technology partners - gathered to connect, share insights, and discuss how, together, we can continue expanding access to genomic testing for families around the world.

While this was our first opportunity to meet in person, the meeting also included a hybrid component so network members who could not travel could participate. Talks from Illumina, PacBio and 3billion highlighted their continued commitment to reducing access disparities to genomic testing through iHope. All participants, in-person and online, engaged in interactive breakout sessions to envision the future of the iHope program together. The energy and momentum of the network was palpable and inspiring💫

We are grateful to Illumina and Baltimore Marriott Inner Harbor at Camden Yards for their support of this event. With additional support, we hope to bring the entire global network together in-person next year!

03/10/2026

Genetic Alliance will be at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting from March 10 to the 13th in Baltimore! Come say hi to Sharon F. Terry, Ryan Taft, and Erin Venti.

iHope is a network of 5 labs and 25 clinical sites offering pro bono clinical genomic testing to children in under-resourced communities. Through access to exome and genome sequencing, iHope provides crucial clinical information to parents and their children living with rare conditions.

Sharon F. Terry will deliver a plenary TED-style talk highlighting the iHope Program on Thursday morning (9:40-10AM, BCC Hall AB) as an example of what happens when genomics is placed directly in the hands of people.

Two posters will also highlight the iHope program’s impact on diagnostic yield and global access to genome sequencing. Visit Poster P505 - Insights from iHope: Impact of Test Selection and Ordering Clinician on Diagnostic Yield and P559 -Expanding Global Access to Clinical Genome Sequencing Through the iHope Program – The Canadian Experience on Thursday March 12 10:30-11:30 AM EST.

These efforts have resulted in 3000 children receiving clinical genomic testing, with nearly half diagnosed. We expand access to genomic diagnosis worldwide.