Cindy Shepler, A Tireless Advocate

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Rare Genomics Institute had the distinct privilege of working with Cindy Siegel Shepler since 2013, when our organization connected with her in the context of her advocacy for patients with Hailey-Hailey Disease (HHD). We soon discovered that Cindy was an advocate for several other health-focused organizations, and more specifically for individuals who suffered from illnesses. Although Cindy herself suffered from several debilitating illnesses, she worked tirelessly to support others who were in pain. 

In 2013, Cindy approached Rare Genomics with a proposal to test a generically available drug in patients with HHD. Although the project evolved over time, with Cindy's support Rare Genomics eventually published a review article: "Could Low-Dose Naltrexone be an Effective Treatment for Hailey-Hailey Disease?". The mini review summarized the evidence for the effectiveness of LDN for HHD patients, and led to increased awareness in the research and rare disease community. This initiative with Cindy was the inspiration for the creation of the Rare Genomic's Task Force, which aims to provide scientific information and support for patients with rare diseases where an N of 1 matters. 

Cindy was a gifted communicator, tireless advocate, brilliant connector, and an inspiration to our organization. We are grateful for our collaboration with her and join those who knew her in celebrating a life well-lived. 

Rare Genomics Institute Launches the RareWear Program

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LOS ANGELES, CA; February 25th, 2020 -- Rare Genomics Institute (RG), a non-profit patient advocacy group for rare disease patients, has launched the RareWear program. This philanthropic global program establishes a partnership ecosystem connecting rare disease patients with medical technology companies who can provide these patients with devices to better manage and monitor their conditions. The program will officially start matching patient applications on February 29th, 2020 marking International Rare Disease Day.

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Empowering Rare Disease Patients with Technology: Why the "RareWear" Initiative

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Empowering Rare Disease Patients with Technology: Why the "RareWear" Initiative

In February of 2020, we at Rare Genomics launched the RareWear Initiative. This program connects rare disease patients with medical device, health monitoring, and wearables companies that contribute technology to empower these patients, their families, and their clinicians. In this blog, we discuss the “Why” behind the RareWear program, and our goals to draw attention and resources to this rare disease patient need.

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Update from Global Genes Summit - A brief chat with Jane Gunther (CureCADASIL Association)

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Update from Global Genes Summit - A brief chat with Jane Gunther (CureCADASIL Association)

In September, I made my first trip out to the West Coast for my first ever rare disease conference--the Global Genes Patient Advocacy Summit. This conference is the largest gathering of rare disease stakeholders in the world, and it’s an opportunity to meet new people, make connections, and learn from the experts.

Through Jane I learned about a new rare disease, CADASIL, which stands for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. In layman’s terms, CADASIL is a genetically inherited disease where just one defective NOTCH3 gene copy on chromosome 19 (from mom or dad) is enough to cause the small blood vessel walls within the white matter of the brain to thicken, making blood circulation more challenging. Eventually, the poor blood flow can lead to a total blockage that triggers a stroke. This results in brain lesions of dead tissue that are responsible for the subsequent cognitive deficits that ultimately lead to dementia.

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Aware for Rare: Shortage of Genetic Specialists & Dealing with the established standards of Clinical Practice - PART IV

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Aware for Rare: Shortage of Genetic Specialists & Dealing with the established standards of Clinical Practice - PART IV

Part IV of the series discusses the shortage of genetics specialists, limited medical knowledge, dealing with established standards of clinical practice and the challenge of integrating extensive information.


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Aware for Rare: Exploring Current Challenges in Rare Disease - PART III

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Aware for Rare: Exploring Current Challenges in Rare Disease - PART III

Part III of the series details some of the other challenges in the rare disease space: continued confusion and not knowing even after diagnosis, scattered rare disease communities, and getting the attention of governments to intervene.


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All of Us Research Program

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All of Us Research Program

It’s been 16 years since the first human genome was sequenced. That undertaking took almost 15 years, cost billions of dollars, and revolutionized genetic research. Since then, new sequencing technologies have led to lower sequencing costs and quicker turnaround times. Sequencing a genome today takes weeks rather than years and costs thousands, not billions.


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Rare Genomics Institute Uses Genomenon’s Mastermind to Diagnose Patient

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Rare Genomics Institute says it has successfully diagnosed a previously-undiagnosed patient using Genomenon’s Mastermind Genomic Search Engine. [Genomenon]

Rare Genomics Institute said today it successfully diagnosed a previously undiagnosed patient using Genomenon’s Mastermind Genomic Search Engine.

The announcement, timed to coincide with Rare Disease Day 2019, comes four months after the partners launched a collaboration in which Genomenon agreed to donate licenses allowing clinical scientists working with Rare Genomics Institute to access Mastermind.

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RG Rare Disease Day Acknowledgment: Small steps make a big difference

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RG Rare Disease Day Acknowledgment: Small steps make a big difference

LOS ANGELES, CA; April 15, 2019 --

Thank you to all our supporters on **Rare Disease Day 2019**, we are so thankful to have a community that is working with us to push science and medicine forward to meet the needs of rare disease patients.

This year we were lucky to have a new community raise awareness with us on Rare Disease Day. We want to thank all Illumina employees who decided to advocate for rare disease patients on this important day. When we say that every bit makes a difference, that is because it makes all the difference, especially for families with significant unmet need.

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Talking to kids about genetic differences- Three great books to share

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Talking to kids about genetic differences- Three great books to share

It can be difficult to explain complicated genetic topics to children with chromosomal differences, or to discuss a child’s uniqueness with family members, siblings, or even to curious strangers. Finding the right words can be even harder if your child is newly diagnosed, or if very little is known about what to expect in the future.

 The books summarized below address uniqueness, inclusion, even genetic/chromosomal differences. These frank, but endearing stories can better arm parents and caregivers with the language to talk about their child’s differences.

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Rare Genomics Institute Demonstrates the Power of Genomenon's AI-Based Technology in Diagnosis

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Rare Genomics Institute Demonstrates the Power of Genomenon's AI-Based Technology in Diagnosis

LOS ANGELES, CA; February 28, 2019 -- Rare Genomics Institute, a nonprofit providing direct support to undiagnosed rare disease patients, announced on Rare Disease Day that they were able to diagnose a previously undiagnosed patient with the use of the Mastermind® Genomic Search Engine, a clinical decision support tool by Genomenon®.

The Patient Research Services of the Rare Genomics Institute has created an ecosystem of leading technology partners and genetic experts from top research institutions around the world to give patients pro-bono access to world-class genomic sequencing, data analysis and interpretation services. Often, Rare Genomics works with their partners and volunteer experts to re-analyze cases that have hit a dead end.

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A Rare Genomics patient is diagnosed using Genomenon’s Mastermind Search Engine

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A Rare Genomics patient is diagnosed using Genomenon’s Mastermind Search Engine

Los Angeles, CA; February 27, 2019: Getting a diagnosis for a rare disease is a long and often painful journey that can take an average of five years and hundreds of doctor visits. Sometimes, the answer never comes; conventional diagnostics does not always provide a diagnosis for diseases that are only found in one in a million or one in 10 million people. Because most rare diseases are genetic in nature, genomic DNA sequencing can be used to provide answers that conventional approaches cannot.

Most families affected with rare diseases are under financial strain, making access to genetic sequencing technologies difficult. Rare Genomics Institute, a non-profit patient advocacy group, meets these patients at the end of their diagnostic odyssey – when all other means of diagnosis have failed and when financial resources are no longer available to continue the diagnostic process. Rare Genomics has created an ecosystem of leading technology partners and genetic experts from top research institutions around the world to give patients access to world-class genomic sequencing, data analysis and interpretation services. Often, Rare Genomics works with their partners and volunteer experts to re-analyze cases that have hit a dead end. 

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Bridging Health and Social Care for Rare Disease Day 2019

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Bridging Health and Social Care for Rare Disease Day 2019

Rare Disease Day is held annually on the last day of February to raise awareness about rare diseases. This effort is targeted at the general public as well as those who influence legislation, research, and healthcare decisions that affect rare disease patients. The first Rare Disease Day took place on February 29, 2008. Since this day only occurs every four years on a leap year, it signifies the rarity of rare disease.

The theme of this year’s Rare Disease Day is “bridging health and social care”. This addresses the need for better coordination of all aspects of rare disease care including medical, social, and support services. The theme sheds light on how performing daily tasks can be difficult for rare disease patients and their caretakers. Activities such as cooking a meal, shopping, and cleaning the house can be difficult or impossible for someone with a disability.

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How The Orphan Drug Act Opened the Door for Rare Disease Research

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How The Orphan Drug Act Opened the Door for Rare Disease Research

Drug research and development is a complicated process that the average person has little influence over and rarely thinks about. This is not the case for rare disease patients. Thoughts about how drugs are developed and why this process is so expensive are sure to come up more often for those affected by a rare disease. It can be a source of frustration since many pharmaceutical companies are reluctant to develop treatments for a rare disease.


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Giving Tuesday 2018 is Just Around the Corner

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This Giving Tuesday, we hope you will consider making a donation to the Rare Genomics Institute (RG).

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We were able to complete 62 projects which includes whole genome sequencing for over 180 individuals. Our latest Patient team called the Rare Genomics Task Force (RGTF), a consultation platform that allows patients to have their questions answered by experts for free, provided consultations for over 200 patients.

Here at RG, we’ve had a busy year! Our volunteers donated over 18,000 hours of their time to help rare disease patients. We want to keep our momentum rolling this year and in years to come. Since RG is completely volunteer-run, the only way we can do this is with a donation from you.

A donation to RG will help a rare disease patient in need. Our patients often have no other options for access to genetic sequencing which can reveal the cause of their disease as well as potential research avenues or treatments.

Thank you for your generous support,

Jimmy Lin, M.D., PhD, MHD

President/CEO, Rare Genomics Institute

P.S. If you are buying holiday gifts on Amazon this year, please consider using our AmazonSmile link. At absolutely no additional cost to you, 0.5% of your purchase amount will be donated to RG. As a non-profit, volunteer-run organization, every cent really does help rare disease patients. Just click on the following link and then continue shopping as usual: http://hubs.ly/y0jzrS0

Rare Genomics is featured in the German Documentary, Medical Research on the Move

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Last month the Nonfiction Society featured Rare Genomics Institute (RG) in a science documentary, which aired in German public television on September 13th, 2018. The documentary highlights “Medical research on the move, where organizations take initiative instead of blaming failing healthcare gaps or the pharmaceutical industry.” It is completely in German, but below is a synopsis of what RG contributed.

The documentary began by talking about the success of the Ice Bucket Challenge for ALS. It garnered over $100 million dollars of donations within a month of their campaign. During that time frame, over 28 million people joined the challenge by posting, commenting or liking a challenge post, Facebook said. Famed leaders and celebrities including Bill Gates, Charlie Sheen and Cristiano Ronaldo produced videos with about 16 million in views on YouTube at the time.

Through interviews with scientific experts worldwide, the documentary aimed to show the novel ways of funding medical research. They highlighted RG’s efforts for patients with rare diseases and interviewed Romina Ortiz, COO and VP of Patient Advocacy, to learn more about the Amplify Hope Study and current efforts by RG.

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Disorder: The Rare Disease Film Festival Returns to Boston

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This September, The Rare Disease Film Festival returned to Boston for its second year. The event featured twelve films and trailers for future projects. Film topics were remarkably diverse, ranging from the charismatic account of an Epidermolysis Bullosa patient (This is Michelle) to a Hollywood production written by a young girl with mitochondrial disease (The Magic Bracelet).

A major theme of the event was how storytelling can give those struggling with a rare disease a powerful voice. Nicole Boice, founder of Global Genes, said that “storytelling can influence, impact, and inspire people to take action”.


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Pathway To Solving A Mystery

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I have been a Genetics Analyst with the Rare Genomics Institute for over a year. The work that analysts like myself do is challenging, but we are aware of the impact and significance of our findings to the affected families. One of the services (https://www.raregenomics.org/rg-patient-research-services/) that we provide is to help identify mutated genes that are causing the patient’s symptoms, and if possible give a name to the disease. Our cases are typically undiagnosed where sequencing data is available.


Genome sequencing of the patient, siblings, and parents is carried out externally by one of our several partners, or the patient brings the sequence from previous analysis so we can re-interpret it. Whole Exome Sequence (WES) refers to sequencing only the DNA that encodes proteins, as opposed to whole genome sequencing (WGS), which includes non-protein encoding sequencing.  WGS and WES are preferred technologies over the more standard microarrays for diagnostic purposes. We currently do our analysis with WES exclusively and are planning to incorporate WGS in the near future.1

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