Making Connections
We're bringing the benefits of genetic research to those who need it the most. |
RARE GENOMICS NEWSLETTER
November 2024
Stay updated on the latest services, collaborations, and opportunities we have. At the same time, we'll share ways you can help us advocate for the needs of rare disease families. With your input and support, we can find new ways to do more! |
Make an Impact On Rare Disease Today |
The holidays are the perfect time to come together with the people we love. As you gather with your family this holiday season, take time to remember the families we serve at the Rare Genomics Institute (RG).
On Giving Tuesday, people worldwide pledge to come to the aid of others. You can be a part of this movement. Please consider donating a portion of your holiday gift budget to RG. |
Navigating Clinical Trials: A Guide for Rare Disease Patients |
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A condition is defined as a rare disease if it affects fewer than 200,000 individuals. Approximately 7,000 conditions meet this definition. In 2016, the United States Food and Drug Administration awarded $23 million dollars towards a four year period that supported research for 21 different rare diseases. However, most rare diseases lack disease-modifying therapies or effective medications for several reasons, which include:
- Poor funding for research and drug development
- Incomplete understanding of disease pathophysiology
- Small sample sizes leading to poor power to draw conclusions
- Insufficient resources (including limited collaboration amongst scientific investigators)
These barriers prevent adequate clinical trials from occurring. In a small study population, these limitations become monumental challenges for rare disease patients, who face an additional issue of placebo-controlled trials where patients are reluctant to be enrolled due to the risk of receiving the placebo rather than the intervention.
Digital advocacy made possible by our technological ecosystem has boosted online efforts internationally to improve funding for orphan drug development, connect rare disease patients to researchers studying their condition, and raise awareness about ongoing clinical trials. The National Organization for Rare Diseases (NORD) is a leader in digital advocacy and through the Rare Action Network (RAN)®, offers a network for patients to connect with other patients, caregivers, and stakeholders in industry to help raise awareness, influence federal policy, and address national issues. |
AI in Healthcare: Revolutionizing Genomic Sequencing and Rare Disease Treatment |
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In recent years, artificial intelligence (AI) has made significant strides across various industries, but its impact on healthcare, particularly in the realm of genomic sequencing and rare disease research, is transformative. As we continue to navigate the complexities of the thousands of rare diseases affecting millions worldwide, AI offers unprecedented opportunities to revolutionize diagnosis, treatment, and patient care. Revolutionary leaders including Sundar Pichai (CEO, Google), Satya Nadella (CEO, Microsoft), Dr. Eric Topol (Cardiologist & Author, Deep Medicine: How Artificial Intelligence Can Make Healthcare Human Again) and Dr. Andrew Ng (Founder, Coursera & Deeplearning.ai) have been quoted in expressing their optimism and support of artificial intelligence in the healthcare space.
The Promise of AI in Genomic Sequencing
Genomic sequencing—mapping an individual's DNA to identify genetic variations—is a critical tool in understanding the root causes of rare diseases. Historically, this process has been time-consuming, costly, and complex, often taking years to deliver actionable insights. As cited by Technology Networks, Genomic Research, whole genome sequencing (WGS) can take an average of 2 to 6 weeks for completion, including analysis and reporting. However, AI has dramatically altered this landscape, enhancing the speed, accuracy, and accessibility of sequencing technologies. |
RareWear Bodimetrics Announcement |
We are excited to announce Rare Genomics’s RareWear program’s return. You have the opportunity to be connected to the latest available medical devices completely free of charge to help you and your physician monitor your rare disease condition. Rare Genomics partnered with BodiMetrics in 2019 to provide patients with wearable devices to help monitor the symptoms of their rare disease:
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RG’s dedicated and talented volunteers deliver remarkable results for families in need of genetic sequencing services. We come from diverse backgrounds but work as a team to help people directly. We love what we do and we’re always looking for professional teammates. To learn a bit more about who we are and why we volunteer, watch the video above. |
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