Genetic Alliance

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.

03/07/2026

Genetic Alliance helped to organize and participate in the San Diego Rare Disease Day. A week later, the energy and commitment from the local rare disease community is still palpable.

Events like these remind us how powerful collaboration can be- bringing together families, advocates, clinicians, researchers, industry, and other supporters who are all working toward the same goal: alleviating the suffering of people living with rare diseases.

It is encouraging to see so many individuals and organizations committed to advancing awareness, research, and access to care. Genetic Alliance is grateful for these strong partnerships.

03/04/2026

We’re welcoming 3billion as the first iHope laboratory partner in Asia! This partnership opens the door to supporting up to 1,000 more families each year, potentially doubling iHope’s current annual testing capacity.

We're also very excited about 3billion's lifetime reanalysis policy, which directly addresses one of rare disease medicine's hardest problems: patients who undergo exome or genome sequencing and still don't get a diagnosis. A variant of uncertain implications today may be well-understood in two years. Rather than limiting reanalysis to patients meeting certain criteria or requiring clinicians to request it, 3billion automatically reanalyzes cases as new scientific knowledge emerges. For families in resource-limited settings, this matters enormously, and we're excited to see the impact of this policy for iHope families.

👉 Learn more and support iHope: https://www.einpresswire.com/article/897499739/3billion-joins-ihope-networks-as-first-laboratory

IIlluminaSSharon F. Terry33billion

Joining the world’s largest rare disease patient network to support patients across the globe in resource-limited settings and set diagnostic standards.

03/02/2026

300 million people. 7,000+ diseases. An average wait of 5+ years just to get a diagnosis.

Rare diseases aren't rare in their impact - they're rare in the attention they receive.

The World Economic Forum recently launched Making Rare Diseases Count: How Better Data Can Unlock a Multi-Trillion Dollar Opportunity — a white paper that Genetic Alliance CEO Sharon F. Terry co-authored alongside an incredible global team.

Read the full paper here → https://lnkd.in/ewZxk4SX

02/28/2026

On this Rare Disease Day, we share the real-world impact of iHope’s mission - a story of precision medicine without borders.

Brianda, from Mexico, showed developmental delays from early childhood such as late walking, delayed speech, and balance difficulties with frequent falls. Despite extensive testing, including normal brain imaging and muscle studies, her family was left without answers.

Through the iHope program, Brianda received exome sequencing at no cost to her family. Testing facilitated by Mendelics Laboratory in Brazil identified a pathogenic variant in the PDHA1 gene, confirming a diagnosis of pyruvate dehydrogenase complex deficiency.

With a diagnosis in hand, her care team acted. Brianda transitioned to a ketogenic diet and began vitamin B1 supplementation. Therapists and her parents soon reported noticeable and meaningful improvements.

This is why access to comprehensive genomic testing, including exome and genome sequencing, is critical.

iHope connects children with suspected genetic conditions to cutting-edge genomic testing, removing financial barriers and accelerating diagnosis. iHope has partners in 14 countries with a core mission of building a worldwide network dedicated to ending the diagnostic odyssey for rare disease families.

Watch Brianda's story here: https://www.youtube.com/watch?v=dDuLv2cgZFE

Illumina Hospital Infantil de las Californias Mendelics

​ iHope ProgramThis is Brianda's story. Undiagnosed until she received clinical genomic testing from iHope. This no-cost testing was made pos...

02/27/2026

We’re excited for iHope to be featured in the Rare Diseases campaign, launching in The Guardian and online. Read more here: https://www.healthawareness.co.uk/rare-diseases/closing-the-global-diagnosis-gap/