All the latest news from the team at Rare Genomics Institute including patient success stories, research, events and more.
At the end of June, we attended our first genetic disease conference: Mitochondrial Medicine 2018 hosted by the United Mitochondrial Disease Foundation (UMDF). We were quick to discover that the Mito community shared many similarities with our own undiagnosed rare disease community.
Read MoreMae is a beautiful, caring and creative 8 year old girl who loves dancing, swimming, baking and all things scientific. She has a sister nearly two years older than her.
We first noticed something wasn't quite right with Mae at around 2 years old when she was unable to jump or climb stairs easily as a toddler. Initially we just thought she had muscle weakness and weren't concerned at all. After doing the routine checks with the GP we ended up being referred to a physiotherapist to help develop 'strength' when she was 4 years old. After only 6 weeks the physio rang me to say that she thought I needed to take Mae to a pediatrician to have her assessed; I still, had no idea that anything could be 'wrong' with her. However, after one hour with the doctor, she told me that Mae had a muscle myopia and that she needed to be under the care of a neurologist and a number of other specialist.
Read MoreAfter six intense years of fighting against an unknown disease that burst into Joaquin's life at three years of age, and performing all the necessary exams to identify the disease and failing in each of them, Joaquin was diagnosed in March of 2017 through Rare Genomics’ philanthropic program iHope with Illumina.
Read MoreThe Scientist, May 2018 Issue | By Jim Daley | May 1, 2018 : Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.
It was a parent who first approached Romina Ortiz, the COO and vice president of patient advocacy at the Rare Genomics Institute (RGI), about crowdfunding. The mother of Maya Nieder, a developmentally disabled 4-year-old, was looking for a way to raise money for her daughter’s whole-exome sequencing, which reveals the intricacies of protein-coding genes (see “Answers in the Exome” here).
Ortiz had cofounded the nonprofit in 2011 to connect physicians, researchers, and rare-disease patients to laboratories that could conduct diagnostic genome sequencing, and to help scientists in those labs find funding. It wasn’t easy at first.
“We by no means were experts at raising funds, so we really wanted to see how else we could help our [patients’] families,” says Ortiz.
In 2012, the RGI managed to raise $3,550 through crowdfunding to sequence Nieder’s exome. The genetic results revealed that the child had a mutation in a single gene that researchers thought was responsible for her disorder. The finding was the first example of a crowdfunded gene discovery.
A walk in the evening had left senior investment banking executive Tim Johnson in immense discomfort.
The 38-year-old based in Mumbai described a stabbing pain that had developed locally in the lumbar region and had extended to his right leg, which began cramping continuously. The next morning, the pain persisted and was accompanied with stiffness that made movements difficult. Johnson decided to consult an orthopedic specialist. It was February of 2016.
After being put on drugs with little to no improvement, Johnson consulted a gastroenterologist. He was then referred to a neurologist, and it was at this stage that Johnson received his first diagnosis of polymyositis, an inflammatory muscle disease.
Johnson’s month-long stay in the hospital involved running test after test to find a definitive diagnosis and careful deliberation of treatment. He was barely able to walk and dependent on painkillers taken three times a day. A month in the hospital left Johnson with no other choice but to resign from his investment banking work, which could not be left unattended to for so long.
By March 2016, Johnson’s team of medical experts had completed a thorough motor examination that had revealed average muscle status with wasting, stiffness in the upper limbs, excess weakness with spontaneous gross fasciculations in both arms and in some areas of the face. A nerve conduction study and EMG confirmed a final diagnosis—Isaacs’ Syndrome.
Also known as neuromyotonia, Isaacs’ Syndrome is a rare, muscle function disease currently affecting an estimated 100 to 200 people worldwide.
“It being a rare disease, the costs involved were very, very high,” said Johnson, who now works as a financial consultant. “In Indian Rupees, my bill was Rs 20 Lakhs [for hospitalization alone, about $31,000]. The rest of the costs, like travelling, were separate.”
Because the disease is so rare, Johnson has yet to meet anyone else with Isaacs’ Syndrome. But, he says he is part of a Facebook group for people suffering from it worldwide. Here, individuals can exchange ideas and share their stories.
“To be honest, I have been dealing with it alone,” said Johnson, who plans on posting in the Facebook group more often. “I am searching for a permanent solution and [trying] not to continue with symptomatic treatment only.”
Such symptoms that Johnson still deals with on a daily basis are commonly experienced among others with the disease and can occur when the peripheral nerves outside of the brain and spinal cord become easily excited, causing the muscle fibers they synapse with at the neuromuscular junction to continuously contract.1 This hyperexcitability leads to involuntary and constant muscle activity producing stiffness, cramping, and delayed relaxation, all of which can result in difficulty walking as well as fatigue.3
In a subset of cases, other symptoms may include excessive sweating, insomnia, seizures, constipation, and personality change, which may point to Morvan syndrome.3
The specific etiology of Johnson’s Issacs’ Syndrome remains unknown, but in many cases, it is either acquired or inherited genetically. In the case of acquired neuromyotonia, there is evidence suggesting the role of certain antibodies perturbing the normal functioning of voltage-gated potassium channels.2 These antibodies have been detected in 30-50% of patients.7 Neuromyotonia can also be triggered by an altered immune response to a neoplasm, or tumor, and is paraneoplastic in up to 25% of patients—often signaling potential thymus or lung cancer.7
While some cases of Isaacs’ Syndrome are acquired and may predate cancer, Isaacs’ Syndrome can be inherited as well. In 76% of patients with autosomal recessive axonal neuropathy with associated neuromyotonia (ARAN-NM), mutations in the histidine triad nucleotide-binding protein 1 (HINT1) gene on chromosome 5q31.1 were identified.4
“As far as I can recollect, there were no genetic tests performed,” Johnson wrote in an email. “PET scan was performed, and it showed no traces of cancer. [My] clinical manifestation of Isaacs’ Syndrome was typical.”
Today, Johnson is still managing his symptoms, which continue throughout the day and even during sleep. However, with a balance of medication, meditation, yoga, and walking, his symptoms have reduced in intensity. Aside from closely monitoring any changes due to medication or food, Johnson says he tries not to think about his disease too much.
Instead, he strives to keep a positive outlook on life by watching inspirational movies “again and again and again,” including the Rocky series.
“I have this quote: ‘Going in one more round when you don’t think you can – that’s what makes all the difference in your life’ by Rocky Balboa in my room,” Johnson said. “I see it first thing early morning and the day is history.”
Johnson says he views his disease both as an opportunity and responsibility to connect with more people and organizations, create awareness, and to learn more about himself.
“I wish and urge people to create the power of awareness and be a part of any social expedition to help others,” Johnson said. “Because of the position that I’ve been put in, I think it’s important to use my voice and people’s support to do as much as I can.”
The patient's name has been changed to maintain confidentiality
Sources
Los Angeles, C.A., February 18th, 2018. Rare Genomics Institute (RG) is happy to give some love and support to patient advocates worldwide during this holiday weekend.
Romina Ortiz, COO and VP of Patient Advocacy was the grateful recipient of Sanofi Genzyme’s 6th annual Patient Advocacy Leadership (PAL) Awards for 2016. For this award, RG created an online training course for patient advocates in the genetics space, particularly for those working in diagnostics and serving undiagnosed rare disease patients. This course will be used to train future Patient Advocate Associates at RG. In partnership with Dr. Harsha Karur Rajasimha and his team from Organization for Rare Diseases India (ORDI), materials on two Lysosomal Storage Diseases: Niemann-Pick and Tay-Sachs were produced, as well as the translation of all material to Hindi.
The link to the eLearning course “Rare Gene Superheroes” has been sent to all those that submitted the early access form in late 2017 and has been shared across RG’s social media channels and homepage. Here is the link to the course located in the Patient Resources section of the RG website. For more information on the Rare Gene Superheroes course, please contact romina.ortiz@raregenomics.org
About Rare Genomics Institute
Rare Genomics Institute (RG) was founded in 2011 to fill the health care gap for undiagnosed rare disease patients and supporting research in rare diseases. RG helps rare disease patients find a diagnosis, treatment, and pathway to a cure by individualized access, coordination and execution of genetic sequencing and research services with RG and its affiliates. RG also supports rare disease advocacy by fostering an online community of rare disease patients, and supporting rare disease research through a yearly grant competition. We hope that these efforts slowly push science and care forward to meet the needs of the patients affected by rare diseases.
Website: www.raregenomics.org
About Sanofi
Sanofi is a global healthcare leader in the discovery, development and distribution of therapies for patients suffering from debilitating diseases often difficult to diagnose and treat. Sanofi is composed of five global business units including: Diabetes and Cardiovascular, General Medicines and Emerging Markets, Sanofi Genzyme, Sanofi Pasteur and Merial. Sanofi Genzyme’s global PAL Awards program supports non-profit organizations that serve patients living with lysosomal storage disorders (LSDs), a group of rare, genetic disorders that can cause progressive and debilitating health problems.
Website: https://www.sanofigenzyme.com/
About Organization For Rare Diseases India
ORDI (http://ordindia.org/) is a non-profit organization with the aim to empower patients with rare diseases and their families in India with access to national and international resources to improve their quality of life. A lack of awareness about rare diseases even among doctors means that a diagnosis often takes many years. The cost of diagnosis and treatment can also be prohibitively expensive. In the absence of a national government policy surrounding rare diseases, there is no push for the development of orphan drugs, the very medicines that can provide relief for patients with rare diseases. ORDI serves as a national umbrella organization for patients with rare diseases and other stakeholders. Our team consists of experts in genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy, and public service.
Website: www.ordindia.org
Los Angeles C.A., February 05, 2018 – Rare Genomics Institute (RG) today announced the peer-reviewed publication of conclusions from their Amplify Hope Study in the Interactive Journal of Medical Research (IJMR). The paper, Engaging a Community for Rare Genetic Disease: Best Practices and Education From Individual Crowdfunding Campaigns, discusses their findings from the program created to help rare disease families crowdfund to pay for needed genetic testing.
“By empowering families, engaging our community and connecting directly with providers for needed genetics services, we hope to shorten the diagnostic odyssey and get these children on the road to answers and hopefully, one day a cure. We are so grateful to receive the support of the John Templeton Foundation to do what we do best, support our rare disease families.” said Romina Ortiz, MHS, COO of the Rare Genomics Institute
Video:
Thanks to generous funding from the John Templeton Foundation, this program was developed and delivered for rare disease families free of charge. Partners on the project included two life sciences technology leaders: Ambry Genetics and Baylor Miraca Genetics Laboratories, and three leading pioneers in crowdfunding: CrowdRise, Indiegogo Life and YouCaring.
The rigorous 30 day program trained families on topics ranging from: preparation before launching their campaigns, reaching out to networks, leveraging social media and video content, and understanding different crowdfunding platforms The Amplify Hope study included a series of free online live webinar training events from top experts around the world, live phone assistance, and coaching from experienced experts. Of the 86 study inquiries, 11 participants submitted the required forms and launched their crowdfunding campaigns. A total of 4 of the 11 campaigns raised their goal amounts within 30 days. We found that social media played an important role in all campaigns. Specifically, a strong social media network, an active outreach process to networks, as well as engagement within the study all correlated with a higher success rate. For more results, view the full-access publication at http://www.i-jmr.org/2018/1/e3/. For resources from the Amplify Hope Study, please visit our site here: https://www.raregenomics.org/amplify-hope-resources
About The John Templeton Foundation
The John Templeton Foundation serves as a philanthropic catalyst for discoveries relating to the deepest and most perplexing questions facing humankind. We support research on subjects ranging from complexity, evolution, and emergence to creativity, forgiveness, and free will. We encourage civil, informed dialogue among scientists, philosophers, and theologians, as well as between such experts and the public at large. In all cases, our goal is the same: to spur curiosity and accelerate discovery.
In order to catalyze such discoveries, we provide grants for independent research that advances the mission of the Foundation. Our grants for public engagement help people worldwide engage the fruits of that research and explore the Big Questions.
About Rare Genomics Institute
Rare Genomics Institute (RG) was founded in 2011 to fill the health care gap for undiagnosed rare disease patients and supporting research in rare diseases. RG helps rare disease patients find a diagnosis, treatment, and pathway to a cure by individualized access, coordination and execution of genetic sequencing and research services with RG and its affiliates. RG also supports rare disease advocacy by fostering an online community of rare disease patients, and supporting rare disease research through a yearly grant competition. We hope that these efforts slowly push science and care forward to meet the needs of the patients affected by rare diseases.
Great news! Rare Genomics Institute just earned the Platinum Seal of Transparency from GuideStar, the world’s largest source of nonprofit information. By sharing these metrics, we’re helping the sector move beyond simplistic financial ratios to assess nonprofit progress. We’re proud to use GuideStar Platinum to share our full and complete story with the world. To reach the Platinum level, we added extensive information to our Nonprofit Profile: basic contact and organizational information; in-depth financial information; quantitative information about goals, strategies, and progress toward our mission. To learn more about GuideStar Platinum, go to guidestar.org/platinum.
For those with a rare disease but without a diagnosis, almost all medicine is “precision medicine.” Whatever drugs or treatments they take are flexible if the patient or their doctors think that the symptoms could be treated with better drugs. In many cases genome sequencing allows for more specific and personalized treatments, and precision medicine has many applications.
In cancer treatment precision medicine means changing the drugs used in chemotherapy not only based on the type of cancer, but based on the mutations that make the cancer dangerous. In drug development, precision medicine means finding new drugs that act as “keys” to certain “locks” in the body. In someone with a rare disease, a diagnosis could lead to a life-changing treatment. But for many, science has not yet found a cure.
Without knowing the cause of the disease, it can be risky to decide which treatments to try on a patient. Sometimes, patients and doctors have no choice but to guess and check. Often patients and their doctors go through the complicated process of reverse engineering a treatment based on whether drugs provide relief or not. For example, if your muscles don’t function properly, there could be many things wrong at the cellular level. Drugs that target the nerve interacting with the muscle might not work, but drugs that target the muscle cells might. With this information, you know a little bit more about the disease, but it can months or years to settle on an optimal treatment with this method.
For some patient’s with rare diseases, genome sequencing opens the door for treating the exact cause disease, not just the symptoms. Continuing the example from above, something as complicated as your muscles could have dozens of reasons for not working properly. If a diagnosis pointed to a malfunctioning protein, treatment could be targeted around that protein. This approach of finding targetable defects has been used successfully in cancer patients.
Precision medicine is being increasingly utilized in cancer treatment. Doctors may request that genome of someone’s tumor be sequenced, to see if a silver-bullet medication is available. This would allow them to avoid using chemotherapy. Cancer is caused by genetic mutations, so sequencing can give doctors important information about how the cancer might develop and behave with certain treatments.
Research into cancer genomes is at the forefront of modern efforts to study and cure cancer. Once sequenced, the mutations in a patient’s cancer can be compared to those in a large database built by researchers. This could yield insight into treatment; some cancer drugs work better against specific mutations, and some treatments are ineffective for similar reasons. If applicable, the chemotherapy doses, timing, and even the drugs involved can be adjusted for the best results.
For some types of cancer, the risk of getting a tumor is hereditary. Genes that normally suppress tumor growth can be mutated, and passed on each generation. Genome sequencing can reveal inherited mutations such as these. Especially for those with a prominent family history of a certain cancer, sequencing can help a patient make informed decisions about their lifestyle. These patients will have informed discussions with their doctors about the prohibitive measures they should undertake, and what they would want in the event that they do get cancer. Often patients who know that they are at risk will have frequent screenings for tumors and stay away from habits like smoking, which can further increase their risk.
Another aspect of precision medicine is drug development. Developing new drugs is very difficult, expensive, and time consuming. Researchers might go through millions of compounds before finding a very specific “key” to a target enzyme’s “lock.” Even when this search is aided by computer modeling, which shows scientists the shape of the enzyme and possible drug compounds that could fit inside, finding even one possible drug is a daunting task.
Once a research team finds a few compounds that can block the targeted enzyme, they are tested for safety, and eventually are given to humans in a clinical trial. This development process takes a lot of time and resources as tests slowly scale up in size from a petri dish to a human being. After years of these tests the drug may go to clinical trial, where patients can sign up to participate in a study of the drug’s effectiveness. Years and many more tests after this the drug may get government approval and released to the general public. If the drug is safe, and works well, it may be approved for clinical use by the FDA.
Some of the bottlenecks for precision medicine include the cost, as well as privacy concerns. These designer drugs are usually only effective for a small cohort of patients, so to recover costs put into developing the drug, a pharmaceutical company may charge much higher prices than for other medicines. Also, like other health data, genetic information is private information, so security must be maintained for all patients.
While Rare Genomics mainly helps people get their exomes sequenced, they also seek to form communities of patients with rare diseases to share their experiences and scientific information. Along with other partners, RG makes information more accessible to patients with rare diseases and their families and seeks to support them post-diagnosis through programs like RareREACH and Rare Share.
Precision medicine was a science fiction goal of the future a short time ago. Today the practice helps countless patients receive higher quality care. With genome sequencing, precision medicine has expanded its reach and shown its potential, and with new technologies constantly in development, I wouldn’t be surprised if it could do even more.
Rare diseases are difficult to diagnose. Years of tests, even targeted genetic tests, could give negative or inconclusive results. If something is wrong with your body then something might be wrong with the proteins that make it run. If something is wrong with your proteins then something is likely missing or added or replaced in your genes. But - how do you find out what that is?
One of the only ways to find a one in three billion “letter” difference in the books of your chromosomes is through genome sequencing. Relatively, genome sequencing hasn’t been around for very long.
DNA sequencing hasn’t been around for very long either.
In the 1970’s the first DNA sequencing tools were developed, and using a gel base, charge differences, and plenty of copied DNA strands, a computer could be used to calculate the sequence of nucleotides present on a short section of DNA.
This incredibly powerful tool allowed scientists to gather exact information about genes instead of just making very educated guesses. Still, improvements were needed. When DNA sequencing became available scientists predicted a world of personalized medicine and gene therapy, but up until 2003 even the most optimistic considered the predictions science fiction.
Public interest in genome sequencing picked up during the Human Genome Project in the 1990’s, a U.S. government initiative like the Apollo moon missions. The project sought to work with the best geneticists around the world so they could sequence the first full human genome.
The first genome fully sequenced was of a bacteriophage, an organism so small that it is just a pocket of protein with DNA inside. That genome was about 5,000 “letters” long, and sequencing was completed in 1977.
To put this in perspective, the calculations done to first land a man on the moon were done on slide rules, by hand. That restriction would make the human genome project nearly impossible.
Computing is the lifeblood of genome sequencing. The rise in efficiency of sequencing and reduction in cost is proportional to the rise in computing power. During the human genome project from 1990 - 2003, the internet took off, the .com boom took hold of the economy, all while amazon, eBay, and google were just startups working out the right formulas. In the midst of this rapid development computers were used to catalog and interpret the billions of nucleotides in the human genome.
The first cellular organism’s genome sequenced was the H. Influenza bacteria in 1995. The genome was one million base pairs long. In 1996, the first eukaryotic genome, a single celled organism with 12 million base pairs, was sequenced, and in 1998 the first animal genome, a nematode worm, was sequenced.
Nine years after scientists set out to sequence the entire human genome, the first human chromosome was sequenced.
By 2003 the Human Genome Project was completed. It had cost 2.7 billion dollars and took 13 years to sequence the full three billion base pairs. Still, the project was both under budget and ahead of schedule by two years. Today, 99% of a person’s genes can be fully sequenced for a price of $1,000, and can be completed in less than 24 hours.
Since the rapid growth in genome sequencing technology, the time needed to analyze the large amounts of data is now the barrier. For genetic diseases, especially rare ones, there is often only one “letter” difference between a healthy gene and a dysfunctional one. Imagine getting a textbook on everything you want to know, but it’s written in a foreign language. The massive amount of data provided by genome sequencing is a boon to science, but only when it can be interpreted.
Personalized medicine and diagnostics for genetic diseases were always a goal for genome sequencing. Before that could become a reality, the cost and time spent on sequencing had to come down. This was accomplished with the rise in computing and a more selective sequencing approach, looking at only the exome, which contains the protein coding sections of the genome. Sequencing finally made its way into the clinic in 2010, and the occasional sequencing of cancer genomes to allow for targeted treatments began even earlier.
While the cost of sequencing itself has gone down significantly, the price tag doesn’t include the many hours that are spent by specially trained geneticists to find a diagnosis. Human analysis, even aided by a computer, has always been a bottleneck of time and resources in genome sequencing.
The Rare Genomics Institute was founded in 2011. Rare Genomics connects families to research institutions and seeks to help families of rare disease patients crowdfund the resources needed for exome sequencing. By furthering the reach of genetic testing, RG helps to make genome sequencing more accessible to those in need. By expanding the reach of genetic testing, the boundaries of medicine are pushed along the lines of the “science fiction” goals set out before DNA sequencing was even available. I wouldn’t be surprised if those “science fiction” goals of genome sequencing were right around the corner.
Amelia just was diagnosed through iHope's funding of her genome sequencing - DYRK1A Syndrome. Thank you!!!!
There’s no treatment for DYRK1A syndrome and will likely be life long, though we don’t know how mild or severe it will affect her.
Read MoreNov 7-8, 2017, D.C.: Thank you Terrapinn for supporting our attendance at your conference. We had our own COO and VP of Patient Advocacy speak about the tremendous burden of being an undiagnosed rare disease patient, and why all stakeholders need to work to meet the needs of these patients and support their diagnostic journey to achieve their diagnosis and accelerate their path to treatment! Below are a few takeaways collected by her.
Read MoreLos Angeles, C.A., October 30, 2017. Rare Genomics Institute (RG) was the grateful recipient of Sanofi Genzyme’s 6th annual Patient Advocacy Leadership (PAL) Awards for 2016. For this award, RG committed to create an online training course for patient advocates in the genetics space, particularly for those working in diagnostics and serving undiagnosed rare disease patients. In this project, RG has worked with Dr. Harsha Karur Rajasimha and his team from Organization for Rare Diseases India (ORDI) to produce eLearning materials on two Lysosomal Storage Diseases: Niemann-Pick and Tay-Sachs, as well as the translation of all material to Hindi. Below is a sneak peak:
“As a virtual nonprofit, we boast the ability to work with patients, clinicians and researchers across borders to get to the cause of these rare diseases. Translating our work is a small step to give patient advocacy organizations worldwide a tool to train their advocates, so that they are best equipped to meet the needs of our undiagnosed rare disease patients.” said Romina Ortiz, MHS, COO and VP of Patient Advocacy, who is leading this operation for Rare Genomics Institute.
As of this week “Rare Gene Superheroes” enters the testing phase with RGs own leading patient advocates. Elizabeth Lotsof, Annie Wang, Qiuyin Ren and Yara Gorashi have been patient advocates at RG for over 3 years and will test the course and provide feedback. The course will be finalized and shared across RG, ORDI, as well as any organization that wishes to access the course online. The course will be free, and will be disseminated via RG’s social media channels and homepage. For anyone interested in receiving a link to the course as soon as it is ready, please fill out this short form. For more information on the Rare Gene Superheroes course, please contact romina.ortiz@raregenomics.org.
About Sanofi
Sanofi is a global healthcare leader in the discovery, development and distribution of therapies for patients suffering from debilitating diseases often difficult to diagnose and treat. Sanofi is composed of five global business units including: Diabetes and Cardiovascular, General Medicines and Emerging Markets, Sanofi Genzyme, Sanofi Pasteur and Merial. Sanofi Genzyme’s global PAL Awards program supports non-profit organizations that serve patients living with lysosomal storage disorders (LSDs), a group of rare, genetic disorders that can cause progressive and debilitating health problems.
Website: https://www.sanofigenzyme.com/
About Rare Genomics Institute
RG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network and an online crowdfunding mechanism, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.
Website: www.raregenomics.org
About Organization For Rare Diseases India
ORDI (http://ordindia.org/) is a non-profit organization with the aim to empower patients with rare diseases and their families in India with access to national and international resources to improve their quality of life. A lack of awareness about rare diseases even among doctors means that a diagnosis often takes many years. The cost of diagnosis and treatment can also be prohibitively expensive. In the absence of a national government policy surrounding rare diseases, there is no push for the development of orphan drugs, the very medicines that can provide relief for patients with rare diseases. ORDI serves as a national umbrella organization for patients with rare diseases and other stakeholders. Our team consists of experts in genetics, molecular diagnostics, drug development, bioinformatics, communications, information technology, patient advocacy, and public service.
Website: www.ordindia.org
Washington, D.C., October, 2017. Rare Genomics Institute (RG) utilizes RareShare, an online social hub for those affected by rare medical disorders. The RareShare website, www.Rareshare.org was relaunched in February 2017 to coincide with Rare Disease Day, with the long-term goal of becoming the #1 aggregator of information about rare disorders on the Web.
RareShare aims to provide reliable information and free resources that will empower rare disease patients and families to be their own best advocate. Through RareShare, patients, families, scientists and health care professionals connect with each other in support and in hope for a cure as well as strive to alleviate the anxiety created by the unfamiliarity and isolation of rare diseases. At the time of this press release:
• RareShare membership has reached 10,170 registered users, an increase in membership of 27% since its relaunch in February.
• 5,062 of these users have been active since the Feb. 28th relaunch and of those, 58% are new and 42% are returning.
• Most users are based in the United States and English-speaking countries such as the United Kingdom, Canada and Australia. However, the website also has a strong international presence from countries such as India, Spain, Colombia and Italy.
Users within the RareShare community are engaged, trust the experts at RG as well as their partnering organizations and have explicitly expressed interest in being involved in clinical trials. Acknowledging this interest, RareShare now has an integrated clinical trial search function powered by Antidote.me. “Website enhancements such as a built-in link to the Antidote.me clinical trial tool will undoubtedly be helpful to our community members, “ says Raymond Chan, Project Manager for RareShare. “The sharing of information within our communities reassures disease patients that their condition may be rare, but they are not alone.”
In addition, rare disease patients on RareShare have the option to register with the CoRDS registry at Sanford Research (currently 3,883 participants across various organizations) and be contacted at a later date when a study is organized for their particular disease. Clinical trial registration grants current patients access to cutting edge treatments, while also aiding the approval process for life-transforming treatments for future generations.
Each RareShare disease community includes a landing page curated by scientists at RareShare and reviewed by experts within the medical and academic communities. RareShare also produces a newsletter that is distributed to all members several times a year. The “Ask the Experts” podcast features scientists, patient advocates and clinicians answering community questions and offering strategies for rare disease management - all available free through iTunes. “The relaunch of RareShare.org and the newsletter have revitalized interest in our website for both new and continuing members,” Chan said. “This, in turn, has energized our RareShare volunteers to produce new rare disease informational content such as podcasts and updated disease summaries”, he added. RareShare’s five most recent podcasts have accumulated over 1,100 downloads. Podcast transcripts will be compiled into an ebook for future reference by community members.
RareShare is equipped with a current team of 22 volunteers, who have renewed their commitment to update disease-specific information on the site and to actively engage with its members belonging to 987 different communities. RareShare volunteers continue to receive member inquiries and make referrals for support within other parts of the organization. Moving forward, RareShare will continue to reach out to outside organizations for collaborations that serve its members.
RareShare is an online social network for patients, families, healthcare professionals and others affected by rare disease and connects communities via direct messaging and forum discussions. For more information on how to support these programs, please contact raymond.chan@raregenomics.org
RG is a 501(c)(3) non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. By providing an expert network, RG helps families source, design, and fund personalized research projects in diseases not otherwise studied. Ultimately, RG aims to expand on its current genome sequencing-focused approach to enable support for whatever type of research is necessary to get closer to rare disease therapeutics.
Jill Weimer PhD, a pediatrics professor at Sanford School of Medicine who studies neuropediatric diseases, including Batten, and Jimmy Lin, founder and president of the Rare Genomics Institute, presented talks last week at the Charles River World Congress on Drug Discovery and Development also sat down for a video discussion about rare disease.
Click here to read more
Allyson “Ally” Lark celebrated her 6th birthday at the end of August. Her family hails from Manitoba, Canada, approximately three-and-a-half hours away from Winnipeg by car. As in the photo with her Rare Bear, Ally is a happy kid. Her mother Madelaine “Leni” Lark describes Ally as an, “energetic, kind, spunky, beautiful, lovely little girl” whose likes include “horses, penguins, music, dancing, spending time with her big sister Bethany and the rest of her family.”
Ally has also been diagnosed with some physical conditions, which include Global Developmental Delay (GDD), Hypotonia and Soft Neurologic Signs (SNS). By utilizing genomic sequencing, it is the hope that Ally’s family can find more answers concerning the details of Ally’s conditions. Ally’s genetics and metabolism doctor (Dr. Patrick Frosk of the Children’s Hospital Research Institute of Manitoba), posits that Ally’s physical features are indicative of a metabolic disorder. Though genetic testing has not yet yielded a specific name for the disorder that Ally has, it is the hope of Ally’s family that as new developments and discoveries are made, Ally’s genetic information may be referenced and a more definite diagnosis may be reached soon.
A frustrating aspect of receiving the diagnoses that the Larks did when Ally was just two years old is the uncertainty of the developmental potential of their child. By contacting the Rare Genomics Institute and having sequencing performed, it is the hope that at least some of that uncertainty can be removed.
Ally's mother Leni described receiving Ally’s diagnosis, “we were very scared as her future at that point was unknown. We did not know what her developmental potential would be, and we did not know what to do, or where to start.”
Ally’s condition is a recognized disability in Canada. However, living nearly four hours from the nearest city has impacted the ability of the Larks to get the one-on-one care their daughter needs. Leni notes, “Resources (here) are so minimal for kids with disabilities. It is up to families and schools/daycares to provide therapies. This is frustrating because we are not able to access crucial resources for Ally as much as we would like, particularly speech therapy and PT…Despite all of this, Allyson has made tremendous gains!”
Like many of us, Ally does not enjoy going to the doctor. But on Boxing Day 2016, her mother contacted the Rare Genomics Institute in an attempt to get Ally the care she needed through the use of whole genomic sequencing. Ally did not qualify for sponsorship of this kind of genetic testing in her home province. However, the Rare Genomics Institute was happy to help the Lark family. Having been selected to receive Whole Exome Sequencing for their daughter, the Larks saved out-of-pocket costs that could have totaled more than $20,000.
The Lark’s experience with the Rare Genomics Institute has been a positive one. Though there is no answer at present as to why Ally has a developmental delay, her mother encourages all families in need of sequencing to reach out to Rare Genomics. Leni stated, “I would have regretted passing up this opportunity… (Rare Genomics is) great to work with! I was worried there would be a lot of red tape to go through as we are located in Canada and Rare Genomics is an American agency, but things went so smoothly.” The family’s plan now is to continue supporting their daughter any way they can. We at the Rare Genomics Institute are proud to have been a part of that support. If you or someone you know could benefit from whole genomic sequencing, please reach out to the Rare Genomics Institute via the links on this webpage.
Daryl Velez
Thank you Global Genes for supporting our attendance to your Rare Patient Advocacy Summit by granting us a scholarship! Below are a few highlights we got from attendee Romina Ortiz, COO and VP of Patient Advocacy.
The meeting kicked off by speakers from leading genetic sequencing laboratories, Illumina, Hudson Alpha Institute and Broad Institute. All three speakers talked about the benefit of whole exome and whole genome sequencing, and the push for insurance coverage to make this test accessible to patients. Ryan Taft, Senior Director of Scientific Research at Illumina, announced that as of November 2017, there will be a significant increase in insurance coverage for WES and that there are already 6 insurers now covering WGS!
Annette Bakker, President of the Children’s Tumor Foundation, described their work for Neurofibromatosis (NF) patients. They foster a NF-specific clinical network, a patient registry, a biobank, promote open data, have developed a tailored Pharma Kit, and started an education and awareness campaign called Patients Help Doctors (PHD). They highlight the success of cross-funding, where multiple funders work together to fund multiple programs.
Linda Newberry, Senior Vice President of Dohmen Life Science Services and Marie Rand, co-founder of PHAware, gave an amazing talk about how to get nursing care covered and the unique situation of sharing your home with a paid nurse. Marie is also working to develop the first ever FDA approved phone application that will collect patient data. She urged parents to “decide what you need and then create your team accordingly, do not wait for someone to tell you what you need.”
The Alliance for Regenerative Medicine (ARM) explained how patients with a rare disease-associated gene may produce too much or not enough of a protein, and how a therapy can be made to balance those protein levels.
Christopher Austin, the director of the National Center for Advancing Translational Sciences (NCATS) at the NIH, described science with a question and an answer, “We have a problem” and “We have an idea.” And that NCATS is in the risk mitigation business, and ¾ of its funding goes to clinical programs and trials to companies that otherwise do not have the resources for their idea. He also mentioned that NCATS recognizes that fundamental research is where science projects begin, “but when someone has a sick child you cannot give them a publication.”
Disorder: The Rare Disease Film Festival has selected thirty films to show at their seven scheduled screenings in Cambridge, MA this October. These films address life with over two dozen rare diseases. Most, but not all, are documentaries and they range in length from 1 minute to 65 minutes.
"The power of bringing together film, science, and rare disease families leads to renewed hope for all those given a one in a million diagnosis,” says Gareth Burghes, director of the film “Life & Atrophy”. “Disorder is a film festival that finds the common ground on rare diseases, empowering all those affected."
As we pass the six-month mark as partners in the iHope program, it has already been so rewarding for us at Rare Genomics to see underserved families receive Whole Genome Sequencing in an effort to gain results and treatments for the conditions of their loved ones. We first shared the VanBrocklin story and video when they received their positive Whole Genome Sequencing results early this year.
I had the opportunity to interview the Van Brocklin family for the video at their home in Racine, Wisconsin, and came away very inspired. After visiting with Jami and Jonathan for just an afternoon, I was taken aback by all of the roadblocks that they have had to overcome in their search for answers for their children, Jasmine and Ronin. Now looking back months after receiving the sequencing results, we can see what a difference they have made.
The cost of copays, prescriptions and therapies for the VanBrocklin’s were well over $5,000 a year; in fact in 2016, they actually hit the threshold ceiling for medical tax deductions. With undiagnosed children, it was very difficult for the Van Brocklin’s to find any answers. From a financial point of view, most insurance providers do not cover procedures like Whole Genome Sequencing, making it very difficult to acquire the comprehensive testing that is the key to unlocking these genetic secrets. From a parenting perspective, imagine having children with a disease that is unknown. It is impossible to start fighting a disease that you can’t even put a finger on.
Fortunately, both Van Brocklin children were able to take advantage of the iHope program and received results for their diseases. With Jasmine’s confirmed diagnosis for Ichthyosis Vulgaris, she has been referred by the Children’s Hospital of Wisconsin to their new pediatric genetic dermatologist. This specialist possesses a much more thorough understanding of her condition. In Ronin’s case, with confirmed genetic testing findings of 16p11.2 microduplication he was able to obtain an official diagnosis of Autism. This diagnosis gives the Van Brocklin’s the option of specialized therapy, and also relieved concerns that his symptoms may have been due to a more significant health concern.
Our partners at Illumina, through the iHope program, have done a tremendous job working with us to provide underserved families with Whole Genome Sequencing testing and it has been a privilege of mine to be a small part of it. If you are looking to be a part of the program, or if you have a family member that may qualify for the iHope program, please do not hesitate to join us in our search for answers.
Richard Bonds
See below for a case series on the treatment of Hailey-Hailey disease (HHD) with low-dose naltrexone hydrochloride published in JAMA Dermatology. HHD is a rare, genetic dermatosis, which despite various treatment options, is difficult to control. The 3 patients examined exhibited at least an 80% reduction in extent of Hailey-Hailey disease after treatment with low-dose naltrexone. No adverse events were recorded with treatment.
Read full article here
This study follows a review from Rare Genomics Institute examining the potential of low-dose naltrexone as a treatment option for patients with HHD.
Read the review here
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