Rare Genomics Institute Announces Winners of BeHEARD (Helping Empower and Accelerate Research Discoveries) Rare Disease Challenge

Washington, D.C. June 21, 2017. The Rare Genomics (RG) Institute is delighted to announce the winners of the 2017 BeHEARD (Helping Empower and Accelerate Research Discoveries) science challenge, a global competition that offers rare disease researchers, who traditionally have difficulty attracting funding, grants of the latest life science innovations and technologies. This unique crowdsourced biotechnology competition allows companies to contribute their technology to make a difference for the rare disease community.

“This year alone, the competition received hundreds of outstanding quality submissions on 84 rare diseases, coming from 94 universities and foundations located in 20 different countries", said Danielle Fumagalli, BeHEARD Director. “Over $750,000 worth of cutting-edge technologies were awarded to study 23 rare diseases globally.”

Rare diseases affect more than 300 million worldwide, yet less than five percent of the 7,000 known rare diseases have treatments available. The winning scientists from BeHEARD 2017 will use their awards to potentially yield key medical research insights on rare diseases and have profound impact on therapeutic developments for patients.

One example is a mouse model, sponsored by Taconic Biosciences, that was awarded to Dr. Teresa Luperchio at Johns Hopkins University. This technology grant will allow her lab to test therapy options for a subtype of Kabuki syndrome, a rare disease characterized by facial deformities, growth deficiency, and intellectual disabilities. There are currently no effective treatments, and testing in the Taconic mouse model will be one of the last steps before the first-ever clinical trials for a treatment.

Winners of previous BeHEARD contests have already used the technologies to make novel discoveries. Dr. Roser Urreizti of the University of Barcelona was awarded genetic sequencing services in last year’s BeHEARD competition for her work on Opitz C Syndrome, a condition in which the skull is a triangular shape and patients suffer from mental retardation and loss of muscle tone. Using the technology, Dr. Urreizti says, “We have identified the disease-causing mutation. We have already started functional studies for every one of the genes associated with the diseases. None of them had been previously associated with Opitz C syndrome. We hope we will be able to test therapeutic approaches (molecular chaperones) in one year. We have started a collaboration to test selected FDA approved drugs on a patient's cells in a search for therapies once the functional studies confirm the relation between the mutation and the disease.”

In the 2018 BeHEARD Challenge, in addition to BeHEARD’s usual competition open to all rare disease proposals, Rare Genomics will collaborate with the INADcure Foundation to support the development of treatments for INAD (Infantile Neuroaxonal Dystrophy) by awarding $100,000 in INAD Discovery Grants specifically for research on the disease.

INAD is a storage disorder where accumulation of lipids in nerve endings causes progressive damage. The symptoms of INAD usually start to appear between the ages of 6 months and 2 years. A common pattern in young children is the steady loss of previously acquired skills, and mental and physical ability. Most children with INAD do not survive beyond the age of ten, and there are currently no effective treatments for the disease, although there has been some promising initial research. “BeHEARD and INADcure hope that by offering the Discovery Grants, we may be able to increase research on INAD. INAD has good potential for treatments, but has had difficulty attracting research and funding due to the relatively low number of sufferers,” says Ms. Fumagalli.

“We want to congratulate the winners and thank everyone who participated: our sponsors, the reviewers, and all the applicants, and we invite everyone to participate again in our upcoming BeHEARD challenge,” noted Dr. Arvin Gouw, Rare Genomics Vice President for Research & Development. “We at INADcure foundation are thrilled to work with Rare Genomics on the next BeHEARD challenge focusing on Infantile Neuroaxonal Dystrophy,” said Leena Panwala, INADcure President and Founder.

A full list of 2017 BeHEARD winners can be found on the RG website: http://www.raregenomics.org/contest-updates

For more information about the BeHEARD challenge, please visit: http://www.raregenomics.org/beheard-competition/

2016/2017 BeHEARD Technology Sponsors: Taconic Biosciences Biovista The Jackson Laboratory Cyagen DNA Software Collaborative Drug Discovery Addgene SnapGene Charles River

More information on INADcure Foundation: http://inadcure.org/

About the Rare Genomics Institute Rare Genomics is an international 501(c) 3 non-profit that makes cutting edge research technologies of genome sequencing, physicians and scientists around the world accessible to rare disease patients. Rare Genomics helps families source, design and fund personalized research projects for diseases not otherwise studied helping rare disease patients find hope for a cure. By providing an expert network and an online crowdfunding mechanism Rare Genomics works alongside patients and their families, providing them with the necessary tools, knowledge, and connections so that they can better understand the cause of their disease.

For further information on Rare Genomics, please visit http://www.raregenomics.org.

RARE Science Donates Personalized Teddy Bears to Rare Genomics Children

 Los Angeles, C.A. June 19, 2017.  Rare Genomics Institute (RG) is the grateful recipient of RARE Bears from RARE Science Inc., a non-profit organization that helps find cures for kids with rare disease. The hand-made teddy bears are scheduled to be shipped today to 13 undiagnosed and rare disease children who have received free clinical Whole Genome Sequencing through the Rare Genomics program. This includes US-based families that reside in the states of Wisconsin, Massachusetts, Florida and California, as well as international families that live in Canada, Chile, The Netherlands, Hong Kong and Australia.

Each RARE bear is customized for each child recipient. To develop the bear design, families are asked to provide vital information about the child recipient including their age, favorite color and top hobbies.

“Now thanks to RARE Science we can give our kids a tangible gift, a bear that is unique to them, special just like they are. We just want to make them smile. said Romina Ortiz, MHS, COO and VP of Patient Advocacy, who is leading this operation for Rare Genomics Institute.

 As the children receive their gifts in the mail, we have asked the parents to send back photos with the bears. RARE Science and Rare Genomics will publish these beautiful photos and stories across social media outlets as they are shared. We hope that this will provide more awareness to the tremendous need these families have and give hope to other families just starting their journey to achieve a diagnosis and cure.  

 “We would LOVE a RARE bear. She's super excited. She asked how long it takes, her birthday is in June!”- Mother

 The RARE Bear Program and Rare Genomics Program are patient advocacy projects aimed to support undiagnosed and rare disease patients. For more information on how to support these programs, please contact romina.ortiz@raregenomics.org

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.

About RARE Science

RARE Science accelerates finding therapies for kids with rare and undiagnosed disease by empowering patient families/foundations with tools that help with community awareness and patient outreach through our RARE Bear Program. We also drive research by pooling knowledge and providing research tools for specific diseases so we can understand the biology that is responsible for the observable traits of rare disease. This helps identify therapies that may help in the more immediate future. We unite patient families, clinicians and researchers across the globe to accelerate finding cures for the most vulnerable patients, our children! Our RARE Bear Program plays an instrumental role in patient family support. In addition, the RARE Bears help us with patient outreach, education and awareness to improve early diagnosis and support our research programs to help accelerate finding cures for kids with rare disease.

RGI/RareShare Ask the Experts Podcast Series - Adrenomyeloneuropathy Syndrome

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Rare Genomics Institute and RareShare are proud to invite you for the upcoming podcast discussing:

Living with Adrenomyeloneuropathy (AMN) -A Clinical & Research Perspective

DATE: 06/14/2017

TIME: 10:00 AM-11:00 AM EST (7:00 AM-8:00 AM PST, 2:00 PM-3:00PM GMT)
 

- Are you interested in learning about recent clinical and research developments and available treatment options for AMN?
- What questions would you ask about symptom management of AMN if you had the experts at hand?
- Do you have any burning questions you have wanted to ask about AMN but haven’t had the chance to?


Here is that chance!

- The podcast will be available at this link both live and after the recording.
- The podcast will also be available on the Rare Genomics iTunes channel after the recording.

The first 25 minute segment will feature medical scientists/clinicians discussing the latest developments in AMN regarding genomics and biotechnology research, while the remaining 20 minutes will feature guest speakers will answer your questions/concerns/issues.

**Here is your chance to ask any question you may have about Adrenomyeloneuropathy?
Submit your question(s) NOW with this form (RareShare Adrenomyeloneuropathy Podcast Registration form) and/or register to attend the program.**

Example questions:

- What are the acute symptoms of Adrenomyeloneuropathy?
- What can I expect for my hypertonia, peripheral neuropathy, and ataxia because I have Adrenomyeloneuropathy?
- What kinds of treatments/early diagnosis  are available to manage my Adrenomyeloneuropathy?

Register here to reserve your spot in the call!

PS. If you cannot participate but would like to ask our experts any questions, please submit them here. The transcript and recording will be posted on the homepage of Rare Genomics and RareShare AMN Syndrome Community after the live Q&A.

MODERATOR: Imogen Crispe, Rare Genomics Podcast Organizer

Meet our Panel of Experts

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Dr. Paul Orchard, MD
Professor of Pediatrics in the Division of Blood and Marrow Transplantation (BMT) at the University of Minnesota
Medical Director of the Inherited Metabolic and Storage Disease Bone Marrow Transplantation Program

Dr Orchard attended medical school at Brown University, served his residency at the University of Wisconsin - Madison, in pediatrics, and held a fellowship at the University of Minnesota.

Dr. Orchard is interested in the use of blood and marrow transplantation (BMT) and potentially other cell therapies for inherited metabolic diseases, like Hurler syndrome and adrenoleukodystrophy. He has developed new therapies specifically for this group of patients with the goal of minimizing neurologic deterioration during the transplant process, including the use of anti-oxidants, reduced intensity transplant regimens and combinations of therapy such as transplant and enzyme replacement. This work also benefits other children undergoing transplant, particularly in regards to our commitment to minimize the side effects of transplantation.

In addition to his clinical work with patients who have inherited metabolic diseases, Dr. Orchard is also engaged in more basic research studies in regard to determining strategies to enhance the delivery of enzymes to the brain and the peripheral nervous system for patients who lack specific enzymes. In addition, he is interested in testing other types of stem cells that may improve outcomes for patients with inherited diseases, including gene therapy approaches. He also leads research and clinical care for patients with osteopetrosis, an inherited disorder leading to increased density of bone, for which BMT is a treatment option. Dr. Orchard is considered an international expert in this disorder and its treatment.

Sources:
https://www.pediatrics.umn.edu/bio/pediatrics-a-z/paul-orchard
https://bmt.umn.edu/paul-orchard-md 

 

Dr. William B. Rizzo, MD
Professor, Division of Inherited Metabolic Diseases at the University of Nebraska Medical Center

Dr Rizzo attended medical school at the University of Illinois, Chicago, completed his residency at John Hopkins Hospital in Baltimore, Maryland, and was a fellow at the National Institutes of Health. He has been in practice for more than 20 years.

Dr Rizzo’s research is directed at understanding the genetic and biochemical basis of inherited metabolic diseases, with a particular emphasis on disorders of lipid metabolism, and diseases  which cause a variety of symptoms involving the brain, nerves, skin and eyes. The investigations in his lab range from basic research on biochemical pathways to discovering unrecognized genetic diseases that affect metabolism in children and adults. Dr Rizzo is particularly interested in Sjogren-Larsson Syndrome and his research has identified the cause of several genetic diseases, and led to the development of new diagnostic tests and treatment approaches.

Sources:
https://www.unmc.edu/news.cfm?match=12499
https://www.unmc.edu/pediatrics/divisions/inherited-metabolic-diseases/faculty/rizzo.html 

iHope continues for Rare Genomics Families

Los Angeles, C.A. June 01, 2017.  Rare Genomics Institute (RG) is happy to announce that our iHope program will continue for 2017. This partnership with leading genomics company Illumina Inc. (NASDAQ: ILMN) provides free clinical whole genome sequencing to selected children affected by rare or undiagnosed diseases. Since our launch on December 6, 2016, over 30 undiagnosed children have received free sequencing.  

“I cannot believe that with Illumina’s generosity, we are now able to offer this cutting-edge technology to our families. We hope that by providing access regardless of their ability to pay, we are accelerating their path to a diagnosis and hopefully one day a cure,” said Romina Ortiz, MHS, COO and VP of Patient Advocacy, who is leading this operation for Rare Genomics Institute.

The RG Patient Advocacy Team will work with all hopeful families to determine candidacy for the program. Children with strong physician support for whole genome sequencing will be considered. Joaquin is just one of the children that has been sequenced and diagnosed through this unprecedented program, and we hope there will be many more success stories to report. Here is Joaquin’s story:

 

Joaquin is a child from Chile who suffers from seizures, autism, strange eye movements, trouble feeding, immune system irregularities as well as generalized and progressive dystonia leaving him confined to a wheelchair. His father Ignacio, a miner in Chile, first came to RG in 2012 after already spending 3 years searching for an answer for Joaquin’s illness. Joaquin’s journey with us has encompassed whole exome sequencing and research studies in collaboration with researchers from Washington University in St. Louis and Canada, which revealed mutations in a gene that regulates the movement of fat in the brain and offered the possibility of a lysosomal lipid storage disease. This year, we were able to get Joaquin free clinical whole genome sequencing through iHope and with it, he finally has his answer. He was 19q13.11 microdeletion syndrome and dystonia type 28. Of note, he has a whole gene deletion of the KMT2B gene. We are currently exploring clinical follow up to help treat Joaquin.

“The most difficult part was not knowing what was consuming him every day, what disease was robbing his childhood. Today with a clear and certain diagnosis, we only have one path to follow, and that gives us complete peace.”- Mother


Please contact patient-team@raregenomics.org for more information on how to support our efforts. For more information about iHope, please visit: http://www.raregenomics.org/ihope

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.

For more information about Rare Genomics Institute, visit http://www.raregenomics.org.

The eBook is available immediately at no cost at http://www.raregenomics.org/eBooks.

Stories and professional photos are available for press at http://raregenomics.org/media-kit/.

Non-Profit Patient Research Services from Rare Genomics Institute Enable Insight into Rare Diseases through Genome Sequencing and Cloud Collaboration

The non-profit Rare Genomics Institute (RG) helps provide rare disease patients with access to cutting-edge molecular biotechnology and analytical expertise with the potential to uncover new directions for research, treatment, and support. As volunteer analysts for RG, we analyzed the exome sequence data of patients with as-yet undiagnosed diseases with a suspected underlying genetic cause.

Read the full article here

VanBrocklin family finds answers with WGS provided by iHope Program

Los Angeles, C.A. February 28, 2017.  Rare Genomics Institute (RG) is happy to share the story of the VanBrocklins, a family from Wisconsin that received free clinical whole genome sequencing through RG as part of its iHope program in collaboration with Illumina, Inc.

“It is our hope that more support is given for undiagnosed children, so that they may receive the treatments and care that they have desperately needed throughout the years” says Romina Ortiz, Chief Operating Officer of Rare Genomics Institute.

Through this test, both children who had experienced developmental and chronic joint symptoms received answers in their diagnostic journey. The family first turned to Rare Genomics in August of 2016 and were accepted in the iHope program by its launch in December. Their genetics team at the Medical College of Wisconsin is now able to continue to support this family, guiding them to further clinical care tailored to their genetic results. Both children are able to receive further treatments and therapies that they otherwise would not have received without the results or diagnosis. To view their story, visit the Rare Genomics Youtube channel.

"Now we know, we have solid evidence. It’s not just based off different tests, we have something that is directly related to him and it’s helped him dramatically. Now that we know what is with our daughter, which routes we need to go. Thank you, I can’t say it enough.”

-Jonathan VanBrocklin, father

Please visit the iHope site at http://www.raregenomics.org/ihope/ to learn more about this opportunity. There are limited number of tests available and eligibility will be determined on a case-by-case basis.

About Rare Genomics Institute

RG is a non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, such as Johns Hopkins, Medical College of Wisconsin and Stanford, RG helps custom design personalized research projects for diseases so rare that no organization exists to help. 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 community funding to support whatever type of research is necessary to get closer to rare disease therapeutics. For more information about Rare Genomics Institute, visit http://www.raregenomics.org and follow @RareGenomics

About Illumina, Inc.

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit www.illumina.com and follow @illumina.

Paper on Orphan Drug Development in China Published

Alice Cheng and Zhi Xie of the Rare Genomics Institute have published a open-access paper, "Challenges in orphan drug development and regulatory policy" in the Orphanet Journal of Rare Diseases.

Cheng and Xie's paper compares orphan drug development and regulatory policy in China and the US. They find that due to political, economic, and cultural differences, China cannot simply base its policies on the American model. China's public healthcare system has the opportunity to take advantage of available data to create aggregated databases for diseases and genomic information, assisting epidemiology research.

The authors advocate for the five suggestions proposed by the National People's Congress and Chinese People's Political Consultative Conference of 2009:

  1. Establish a definition for rare diseases.
  2. Develop an orphan drug reimbursement system.
  3. Propose a clear and simple approval pathway for imported orphan drugs.
  4. Promte rare disease research through policy.
  5. Develop government-supported programs for rare disease patients.

Read the full paper from the Orphanet Journal of Rare Diseases.

Rare Genomics Institute and Organization for Rare Diseases India are recipients of Sanofi Genzyme’s PAL Award 2016 to Develop Rare Disease Online Learning Modules

Los Angeles, C.A. January 31, 2017.  Rare Genomics Institute (RG) and the Organization for Rare Diseases India (ORDI) announced today that they are one of the recipients of Sanofi Genzyme’s 6th annual Patient Advocacy Leadership (PAL) Awards for 2016. RG and ORDI have won financial support for the development and dissemination of specialized Rare Disease online training modules. 

The project is directed by RG COO and VP of Patient Advocacy, Romina Ortiz. 

“The goal of the project is to develop an e-learning educational resource to train patient advocate associates, patients, caregivers, physicians, and researchers to strengthen and optimize rare disease patient advocacy for pre-sequencing and post-sequencing support functions,” said Ms. Romina Ortiz, MHS. “The content is highly specialized and includes genetics, heredity, next generation sequencing, with a special focus on rare disease, professional patient interaction, and privacy.” 

On this project, RG partnered with Dr. Harsha Karur Rajasimha and his team from ORDI, who will pioneer the first international distribution of these training materials, specifically contributing to the translation of these materials into Hindi and disseminating them amongst their rare disease network and direct content development for Lysosomal Storage Disorders. ORDI aims to connect with a subset of the roughly 490 million Hindi speaking population that consumes health information only in Hindi. 

Web-based training materials are anticipated to be ready by Fall 2017, and will be disseminated directly to patient advocates working with thousands of disease-specific organizations. Materials will also be publically available for patients and caregivers through the RG and ORDI websites. If you are interested in knowing more about genome sequencing for rare diseases, please email: contact@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. 

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: http://ordindia.org/

Rare Genomics Wins Sanofi Genzyme Patient Advocacy Leadership Award

Sanofi Genzyme has announced the Rare Genomics Institute as one of winners of the 2016 Patient Advocacy Leadership (PAL) Awards. The PAL Awards support projects by non-profit organizations that serve patients living with lysosomal storage disorders (LSDs), a group of rare diseases.

The Rare Genomics Institute, working together with the Organization for Rare Disease India, submitted a winning proposal for creating training modules and other educational materials on genomic sequencing for patients, caregivers, patient advocates, and physicians. Because the genes for many LSDs have been identified, genomic sequencing is a useful tool in for diagnosis. However, a lack of education presents a barrier to this resource. The Rare Genomics Institute and the Organization for Rare Disease India hope to mitigate this barrier through improved education.

Read more about the 2016 PAL Awards at Sanofi Genzyme.

Rare Genomics Featured in Wired

Wired Magazine's article, "How one boy's mystery disease could hold the key to solving our biggest health threats," shares Rare Genomics founder Jimmy Lin's journey to connect new developments in cancer genetic research to rare diseases. Authors Emma Bryce and Matthew Reynolds illustrate the impact of social entrepreneurship in the sciences with the Rare Genomics Institute. Read more at Wired.

RGTF provides an innovative and convenient way of helping patients with rare diseases

The Rare Genomics Task Force (RGTF) division of Rare Genomics Institute aims to provide scientific information and support for patients with rare diseases. These efforts include but are not limited to conducting research reviews, writing reports for patients, identifying renowned experts who can help with projects, and connecting experts with rare disease patients. RGTF recently started a free and publicly accessible platform that is currently running through email communication.

In the US, around 20 million people suffer from rare diseases. Unfortunately, we are only in the very early stages of diagnosing and treating the majority of these rare diseases. As such, patients are left with limited information regarding their condition. As patients who have rare diseases have increasingly made email inquiries,, the RGTF initiated a better and faster way of communication with patients about their diseases with an online platform through which they can directly submit questions. Our analysts aim to answer their inquiries quickly, usually within 10 business days.

RGTF provides an innovative and convenient way of helping patients with rare diseases. Compared to conventional email communication, this application platform (http://www.raregenomics.org/rgtf) will expedite the spread of knowledge as well as better satisfy the needs of patients. With trained scientific analysts and established connections with experts in diverse areas of rare diseases, the RGTF provides advanced scientific support to help patients.

Please do not hesitate to contact our experts with inquiries at http://www.raregenomics.org/rgtf

Contact: The Rare Genomics Institute

info@raregenomics.org

8504 Firestone Blvd. #198, Downey CA 90241

About the Rare Genomics Institute

RG is a non-profit that makes cutting edge research technologies and experts accessible to rare disease patients. Partnering with top medical institutions, such as Harvard, Yale, Johns Hopkins, and Stanford, RG helps design personalized research projects for diseases so rare that no dedicated organization exists. 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 community funding to support any type of research that leads to rare disease therapeutics.


For more information about Rare Genomics Institute, visit http://www.raregenomics.org.

Rare Genomics Institute to Provide Clinical Whole Genome Sequencing to Children with Rare and Undiagnosed Genetic Diseases through Partnership with Illumina

Washington, D.C. December 1, 2016.  Rare Genomics Institute (RG) today announced a partnership with leading genomics company Illumina Inc. (NASDAQ: ILMN) as part of their iHope program, which provides clinical whole genome sequencing to selected children affected by rare or undiagnosed diseases. 

“My team and I have journeyed alongside many families as they try to access these technologies to help their children find a diagnosis. Being part of the Illumina iHope program will help us bring whole genome sequencing to more families,” said Romina Ortiz, MHS, Co-founder and VP of Patient Advocacy and Policy, who is leading this operation for Rare Genomics Institute.

Since 2011, RG has been helping rare disease patients access genomics to find a diagnosis - connecting them with over 20 research institutions and companies around the world and helping them find funding - either through industry sponsors, academic grants, medical insurance, or crowdfunding.

“We are excited about the Illumina iHope Program, as it allows us to bring cutting-edge technologies to more families facing rare and undiagnosed disease, while removing some of the financial and operational barriers to accessing whole genome sequencing,” said Jimmy Lin, MD, PhD, MHS, Founder and President of Rare Genomics Institute.

Families facing rare and undiagnosed disease experience many challenges as they strive to end what are too often years-long diagnostic odysseys to identify the cause of their child’s ailments, while caring for a child with complex medical needs and an uncertain future. Many do not have access to whole genome sequencing, which presents hope for a diagnosis either because they do not have access to physicians able to order and interpret these tests, or due to financial barriers. The iHope program aims to address these challenges by providing whole genome sequencing to patients with medical and financial need selected by RG and other program partners.

Full details for eligibility and selection criteria are available at http://www.raregenomics.org. Applications will be accepted on a rolling basis.

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.

For more information about Rare Genomics Institute, visit http://www.raregenomics.org.
The eBook is available immediately at no cost at http://www.raregenomics.org/eBooks.
Stories and professional photos are available for press at http://raregenomics.org/media-kit/.

Rare Genomics is a finalist for the 2016 Drucker Prize!

The winning nonprofit organization, which receives a $100,000 grant, will be announced on September 30. The Rare Genomics Institute was selected from 50 semifinalists—out of 500 applicants—after completing mini-courses that covered innovation and nonprofit performance. Rare Genomics answered questions on our current organizational practices and how we could implement the new ideas that were presented through the mini-courses.

The Drucker Prize, formerly known as the Peter F. Drucker Award for Nonprofit Innovation, has been awarded since 1991. Winning organizations represent the Drucker Institute's definition of innovation: "change that creates a new dimension of performance." Nonprofits are judged on effectiveness, the difference their programs can create in the lives of people they serve, and their innovative impact.

Read more

Rare Genomics Institute Launches a New Personalized Medical Research Platform

– Service features pro bono, patient-centric, consulting from cutting-edge scientists and medical experts –

Washington, D.C. August 11, 2016. Rare Genomics Institute (RG), is a 501(c)(3) non-profit organization that works alongside patients and their families. We provide them with the necessary tools, knowledge, and connections so that they can better understand the cause of their disease. Initially formed as a resource supporting patients’ access to genomic sequencing, RG is proud to announce a new personalized medical research platform (http://www.raregenomics.org/rare-reach/) for patients with rare and undiagnosed conditions. This platform centers around a consultative team of highly-trained volunteer scientists and medical experts who provide pro bono, insights and advice for each patient, by leveraging state of the art computational systems, cloud collaboration, and the unique expertise of RG’s global network of rare disease specialists. Patients may enroll in the new service directly via RG’s website. Upon acceptance, patients share their medical and genomic data with their personal RG team of highly-trained scientific analysts via the online data-sharing platform Patients Knows Best (https://www.patientsknowbest.com/). Upon completion of the service, patients receive a detailed scientific report summarizing the main findings about their unique condition, and suggested next steps. Depending on the complexity of each case, possible outcomes could vary from verification of previous sequencing information that could unravel new findings, to actionable outcomes such as connecting to advanced resources.

We are a team of scientists who believe in the potential of science to improve lives and work tirelessly to achieve this goal. Hear from our researchers:


“We are thrilled to announce our new initiative designed to bring more precise and personal knowledge to our patients in order to better understand their unique conditions. Our researchers are fulfilling a critical role in the patient care team that is distinct from that of physicians, genetic counselors, and sequencing services. Specifically, our initiative addresses the need for integrated in-depth analysis of rare disease patients’ unique genetic and medical data to enable deeper insights into their conditions. This translates to faster access to cutting-edge scientific solutions for our patients. We are committed to furthering the RG mission of propelling rare disease research forward in the hopes of bringing our patients closer to a diagnosis, treatment, or even cure.”--- Rajini R. Haraksingh, Ph.D., VP, RareREACH.


 “The average RG patient has already seen at least 10 different physicians by the age of 3, and still is no closer to an answer. These families have been through tremendous emotional, physical and financial hardship, something that most people cannot begin to comprehend. The Patient Advocacy Team (PAT) at RG is intimately involved with patients, providing them with Individualized case management and coordination of CLIA-certified Genetic Sequencing services. On a case by case basis, we help patients identify appropriate funding opportunities. Our HIPAA-compliant patient data sharing policies ensure protection of patient privacy. PAT provides patients and their families a platform to gain access and push science to the limit to find an answer, because every disease will be on its way to a cure, no matter how rare.” --- Romina Ortiz, VP of Patient Advocacy and Policy at Rare Genomics Institute

To learn more about our journey and accomplishments, click here (http://www.raregenomics.org/).

We are always looking out for ways to help our patients and their families. Our RG partners (http://www.raregenomics.org/research-partners/) play a pivotal role in this herculean task. If you are interested in knowing more about RG’s services or partnering with us, please reach out to us: http://www.raregenomics.org/contact-us/.

GENENTECH & UCSF LIBRARY SELECTION – CDD WEBINAR VIDEO

Hear an engaged debate on library selection from the Biology and Chemistry perspectives. At times humorous, Michelle Arkin, Associate Professor, Pharmaceutical Chemistry – Director, Biology, Small Molecule Discovery Center – University of California, San Francisco & Nick Skelton, Principal Scientist – Genentech Video discuss their own collaborations, collaborations in general, and best modern approaches to library selection in academia and industry.