BeHEARD Highlights

Keep reading to see how the BeHEARD grant helped past winners advance rare disease treatments and research! 

From the Winners

Jill Wood
Founder, Jonah's Just Begun

Prize: Custom Mouse Model
Company: Taconic Biosciences

Jill Wood is the founder of Jonah’s Just Begun, an organization created to find a cure for Sanfilippo Syndrome. Jill and her husband founded the organization in 2010 after their son, Jonah, was diagnosed with Sanfilippo Syndrome. The foundation raises funds and distributes them to academic research groups focused on finding treatments.

Sanfilippo Syndrome is a lysosomal storage disease, caused when the lysosomes in cells, or the cells’ “recycling centers”, have problems breaking down unwanted materials, and instead store them inside the cells. As the volume of the materials stored in the cells increases, it progressively damages the cells, leading to the degeneration of the central nervous system. After a symptom-free period in infancy and early childhood, the disease gradually worsens, causing progressive intellectual decline. There is no cure or effective treatment, and children generally die from the disease in their teens to early twenties after losing the ability to walk, talk, and eat.

After Jill applied to BeHEARD for support for Jonah’s Just Begun, the organization was selected byBeHEARD to receive a knockout mouse for Sanfilippo Subtype D (MPSIID) from Taconic. The mouse model of the disease provided the groundwork for their scientists to better understand the disease and propose research for future treatments. As a result, Jonah’s Just Begun won an NIH grant for $223,102 for the first-ever pre-clinical research for a treatment for Sanfilippo Subtype D.  

“You just helped me save the lives of children affected by MPSIIID,” says Jill. “MPSIIID is ULTRA ULTRA rare, nobody else was going to stand up [for] the handful of children suffering from MPSIIID. This prize is the very first step to finding a treatment for them.” Jill also encourages other rare disease researchers to apply for the BeHEARD competition: “Funding for ultra [rare] diseases is VERY HARD to come by. We must take advantage of all the resources available to us.”

For more information on Jill’s organization, please see her article on CNN or visit the Jonah’s Just Begun website. 

Heather Etchevers
Tenured Research Scientist, French National Institutes of Health

Prize: JumpStart TAQ ReadyMix (2013); Mouse Models (2015)
Company: Sigma Life Sciences (2013); Jackson Laboratory (2015)
 

Heather is a two-time winner of the BeHEARD competition for support for her research on identifying mutations that lead to giant congenital melanocytic nevus (CMN), a pigmented birth defect of the skin that requires surgery to remove.

In 2013, Heather was selected to receive a supply of JumpStart TAQ ReadyMix, a PCR reagent, from Sigma Life Sciences, which led to her lab finding the mutation responsible for CMN in eight patients. Heather was also able to use leftover reagent supplies for ongoing research to identify the genetic cause behind a second rare disease, cutaneous arteriovenous malformations. Her lab was able to eliminate one of four likely genes as a potential cause, a result that was written up for journal publication. During 2015, Heather was awarded $10,000 worth of existing mouse models from The Jackson Laboratory’s live repository, from which she selected six defined lines. 

Heather and her team, “…are looking forward to using a so-called reporter mouse strain to monitor the activation of a particular signaling pathway in individual cells. With the animal model and cellular tools we are developing at the moment, [we will] develop innovative approaches to curing the worst effects of CMN syndrome (cancer, neurological deterioration) and managing the ones with psychosocial impact, such as a strikingly different appearance, relentless itchiness or otherwise less than fully functional skin.”

"It's always a tremendous challenge to attract research funding for rare diseases - even more so when we are carrying out fundamental studies in mechanisms and causes", says Heather. "RGI BeHEARD did just that - the fact that an award was attached made our research more visible and attractive for other funders."

Michael Levy
Associate Professor, Harvard Medical School

Prize: Mouse Model Vector Construction
Company: Cyagen

Dr. Levy studies transverse myelitis, a painful inflammation of the spinal cord, which causes weakness or paralysis of the legs and arms, sensory loss, and bowel and bladder dysfunction. There is currently no cure for the condition, and while some people experience a recovery after several months, others may suffer from permanent impairment or recurrent episodes.

Dr. Levy’s lab discovered a gene that is involved in transverse myelitis. However, due to the disease’s rarity (~1,400 new cases of transverse myelitis diagnosed each year in the United States), it has been a challenge for them to follow up with further research. “Funding for rare diseases is challenging because it’s difficult to make the case that the findings will be widely applicable to other diseases or populations,” explains Dr. Levy. “Rare disease research is most appealing to funders when the work can be extrapolated to other, more common diseases.”

Dr. Levy was awarded a mouse model vector construction from Cyagen through our 2018 BeHEARD competition. “The BeHeard award we earned provided a significant discount on production of a mouse model that we wanted to develop. Because there are only 8,000 people in the U.S. with transverse myelitis, we have not been able to raise enough money to support our research. But because of this award, we were able to finally afford to create the mouse model.” Dr. Levy’s lab has begun to study their mouse model, and has used their initial findings to prepare a grant application to submit to the NIH to further understand the role of the gene in causing the condition.

Roser Urreizti
Postdoctoral Fellow, CIBERER, University of Barcelona

Prize: Whole Exome Sequencings
Company: Euformatics

Dr. Roser Urreizti is a postdoctoral fellow at CIBERER, Universitat de Barcelona (Spain). Roser’s work focuses on searching for the gene or genes responsible for Opitz C Syndrome, by means of whole exome sequencing and functional studies. One of the distinguishing features of C Syndrome is a condition in which the skull is a triangular shape, primarily due to premature closure of the cranial sutures. The disease is also characterized by mental retardation, loss of muscle tone, abnormalities of the sternum, facial palsy, webbed fingers and/or toes, contractures, short limbs, heart defects, failure of one or both testicles to move down into the scrotum, (cryptorchidism), abnormalities of the kidneys and lungs, deformity of the lower jaw, and seizures. 

Roser was awarded whole exome sequencings from Euformatics, which allowed her team to confirm that they had found the genetic cause behind the disease. “In the patients analyzed by the Euformatics platform, we have identified the disease-causing mutation,” says Roser.  “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 in a near future. 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.”

Rachel and Michael Harris
Parents of David Harris, a Vici Syndrome Patient
Research Affiliation: Heinz Jungbluth and Mathias Gautel, King’s College

Prize: Custom Mouse Model
Company: Taconic Biosciences

Vici syndrome is a serious recessively inherited congenital condition that affects multiple systems and results in failure to thrive, development delays, and significant physical difficulties. Life expectancy is significantly diminished and treatment is mainly palliative.  Luckily for David, his dad, who is a bioinformatics scientist, and his mom discovered the Rare Genomic Institute’s 2015 BeHEARD Science Challenge on the internet. Working together with researchers Heinz Jungbluth and Mathias Gautel from King’s College in the United Kingdom, Michael and Rachel put together a successful application for our 2015 grand prize, a custom mouse model for Vici Syndrome from Taconic Biosciences.  

Although finding researchers to work with proved somewhat challenging, the Harris’ found the application process with BeHEARD straightforward and rewarding. “Being that Vici syndrome is an ultra-rare disease, it has been challenging to find resources to support the research and development of therapeutics.  BeHEARD and Taconic generously awarded us a mouse model of the disease.  The mouse model is a crucial first step to finding treatment options for Vici syndrome.”

Making a disease specific model is a complicated task. The Harris’ report that, “Taconic has been very helpful and supportive throughout the entire process. Once completed, the model will allow for the detailed investigation on the biological underpinnings of the disease and will most importantly provide a model for testing therapeutics”

Rachel and Michael Harris encourage others to participate in BeHEARD: “BeHEARD provides hope and concrete resources for rare and ultra-rare disease patients. The Rare Genomics Institute gives hope to rare disease families who may feel isolated and alone.”

Vinicio de Jesus Perez
Pulmonologist and Assistant Professor, Stanford Department of Medicine

Prize: Zinc Finger Reagents
Company: Sigma-Aldrich

Vinicio competed against 27 entrants in his category to win Zinc Finger reagents from Sigma-Aldrich. Vinicio's research proposal was for the study of pulmonary hypertension (PH), or high blood pressure in the lungs. Unlike with normal hypertension, which affects arteries throughout the body, PH affects only the blood vessels in the lungs and the right side of the heart.  Vinicio's lab had already discovered a gene, CES1, which protects the cells in the linings of the lungs' blood vessels. In patients with PH, the loss of function of CES1 resulted in a greater likelihood of cell death and disease progression.

Vinicio's proposal was to use Zinc Finger reagents to create a CES1-deficient rat model, to study whether rats deficient in the gene would have a greater risk of developing PH after exposure to toxins, such as methamphetamine and cocaine. His lab is currently in the process of creating the first CES1 knockout rats, and has used the sponsorship as an opportunity to help his department's animal facility to become known as a source of expertise on developing rat models in general.

Vinicio reports it was easy to work with the product sponsor: "Sigma-Aldrich was very attentive throughout the entire process of generating the reagents, and provided local assistance to train and educate our core facility staff on how to best use the Zinc Finger approach to successfully generate the proposed rat model." He also endorses the BeHEARD competition in general. "The process was very straightforward," Vinicio says. "The website was easy to navigate and the final decision was timely. Given my experience with this competition, I plan to submit again for the coming cycle!"

Jill Fahrner
Assistant Professor, Johns Hopkins University, Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine

Prize: Mouse Model; RNAseq Analysis
Company: Jackson Laboratory; Maverix Biomics

In what Jill describes as a very “straightforward” process, she applied the Rare Genomics Institute’s 2015 BeHEARD Science Challenge and was rewarded with two grants, a mouse model from The Jackson Laboratory and RNAseq analysis from Maverix Biomics. With these awards, she will study two Mendelian disorders of the epigenetic machinery—Kabuki syndrome and Weaver syndrome.

Kabuki syndrome causes both developmental delays and intellectual disability in addition to a number of physical problems. It is called Kabuki syndrome because it causes distinct facial features that give the face the appearance of having been made up for the traditional Japanese theater known as Kabuki. Weaver syndrome causes mild intellectual disability in addition to a number of physical ailments. Like Kabuki syndrome, Weaver syndrome causes distinctive facial features including eyes that are widely spaced, ears that are low-set and large, a chin that is dimples and a lower jaw that is small. 

The work is ongoing and in the end, Dr. Fahrner hopes the BeHEARD technology prizes will help her to advance progress towards treatments for rare diseases by "help[ing] me to study an animal model of the disease to identify potential novel therapies and better understand the molecular pathogenesis of the rare diseases that I study. I plan to continue to study the molecular pathogenesis of these conditions and attempt to identify novel therapies.” Feeling confident about the future, she has already figured out her next steps and has additional research is planned utilizing genome-wide transcriptome analysis and ChIP-sequencing.

Jill Fahrner faces the same challenge that many other who are doing rare disease research face, “difficulties obtaining funding for new project ideas.” So today, she “…just want[s] to say thank you for the opportunity to participate and for the awarded prizes to advance my research. This is a great program, and I would encourage everyone studying rare diseases to apply.”

Qiang Chang
Associate Professor of Medical Genetics and Neurology at the University of Wisconsin-Madison

Prize: $10,000 cash grant

Qiang Chang is an Associate Professor of Medical Genetics and Neurology at the University of Wisconsin-Madison, as well as the Associate Director of the Waisman Intellectual and Developmental Disabilities Research Center. Qiang's lab won BeHEARD's $10,000 cash grant in the 2013 competition.

Qiang's research proposal was for funding to identify novel MeCP2 (Methyl CpG binding Protein 2)-interacting proteins to understand the molecular function of MeCP2. The MECP2 gene contains instructions for the synthesis of a protein needed for brain development. Mutations in the MeCP2 gene cause nearly all cases of Rett syndrome (RTT), a debilitating neurodevelopmental disorder similar to autism.

The lab's research resulted in the identification of several new MeCP2-interacting proteins, and a manuscript on their findings is currently being prepared for publication. Qiang's ultimate goal in studying the MeCP2 gene is to develop a full understanding the gene's function and its role in causing Rett syndrome, and in turn develop an effective treatment for the disease. "This is a very rewarding process", said Qiang, when asked about his experience with BeHEARD. "BeHEARD united the researchers with patient families to work towards a common goal."

Carolyn Suzuki
Associate Professor, Rutgers University Medical School

Prize: Mouse Model
Company: Jackson Laboratory

Carolyn studies a rare multi-system developmental disorder called CODAS syndrome, characterized by cerebral, ocular, dental, auricular and skeletal anomalies. Her team recently showed that mutations in the mitochondrial ATP-dependent Lon protease cause this disease. Carolyn applied to the BeHEARD challenge to further her research on understanding the mechanistic abnormalities underlying CODAS syndrome, and to identify potential strategies for mitigating or alleviating the problems faced by children with this disorder. Carolyn was selected to receive a mouse model from the Jackson Laboratory.  

“There are no available funding sources for producing a mouse model of a rare disease such as CODAS syndrome”, says Carolyn. “The BeHEARD award is a tremendous opportunity to move our research forward”. Additionally, Carolyn reports that while the mouse model is in the process of being produced, letters of support from Jackson Lab have helped her apply for additional grant funding as well.  

Carolyn encourages other scientists studying rare diseases to participate in this competition. “Take the challenge and apply to further your goals to treating and understanding the rare diseases that affect the lives of children who may not have advocates or representation in the research community. I am deeply grateful to BeHEARD for your support”.

Paul Trippier
Assistant Professor,Texas Tech University Health Sciences Center, School of Pharmacy, and Department of Pharmaceutical Sciences

Prize: Vault and Vision Software
Company: Collaborative Drug Discovery

Paul's research focus is small molecule drug discovery to target malignant and neurodegenerative diseases. He is working on optimizing the action of a drug (Flupritine) to treat Batten disease. Batten disease is an autosomal recessive neurodegenerative disease of childhood that typically presents at school age with vision loss followed by progressive cognitive decline, motor dysfunction, seizures, and behavior problems. 

“We are engaged in drug discovery for a rare pediatric neurodegenerative disease that if successful would represent the first available treatment for this disease. We have developed an efficient synthetic route capable of generating a wide range of flupirtine derivatives in excellent purity. Our initial SAR data demonstrates that compounds possessing greater efficacy than flupirtine can be identified thereby establishing the flupirtine scaffold as a viable hit compound for further hit-to- lead development. Synthesis of additional derivatives and bioassay has identified potent compounds that are being used as chemical probes to determine a mechanism of action."

Paul and his team are trying to identify these compounds’ mechanism of action by uncovering the target protein they bind to. They received software from Collaborative Drug Discovery Inc. “The products were used to ensure accurate tracking of compound structure and activity as well as allowing multiple users to access the data without sending many spreadsheets backwards and forwards by email, reducing the possibility of errors”. The project is progressing well, with an NIH grant application submitted." Paul reports that there is "a general lack of funding opportunities to support rare diseases research", and  "the BeHEARD challenge provides much needed funding/equipment/access to technology that is difficult to obtain from other agencies".

Roope Kallionpaa
PhD Candidate, Institute of Biomedicine, University of Turku, Finland

Prize: Cell Line
Company: Biocytogen

As a doctoral student, Roope Kallionpaa understands the value of research. Roope works on developing personalized treatments for neurofibromatosis type 1 (NF-1), a rare disease that is characterized by the development of multiple benign tumors of nerves and skin, and can also cause seizures, skeletal deformities, and speech and learning disabilities. There are no effective therapies for the cause of the disease, and the only treatment is surgery to remove the tumors.

Roope won a BeHEARD technology grant in 2015 for a collaboration with Biocytogen (http://www.biocytogen.com/) to generate a modified cell line for use in the project. This will be used in his project this year to begin assaying enzyme expression in NF-1 deficient and control cell lines. Accounting for NF-1 deficiency is important in cancer research. Roope’s research will lead to pharmaceutical strategies to better target cancer cells that are affected with the deficiency specifically, and could have an impact on treatments of cancer more broadly.

“Conducting clinically relevant research on rare diseases requires suitable tools, such as cell culture models. Scarcity of funding may lead to the use of only (a) few test systems,” says Roope. “The BeHEAD prize provides us with (a) clinically relevant research tool that we might not have been able to acquire without the prize.”

Roope reports a great relationship with Biocytogen and is looking forward to receiving the modified cell line from the company and continuing his project. Roope stated about the BeHEARD competition, “The application process was relatively painless considering the value of the rewards and the benefit they may give to one’s research. The competition is an efficient way of fostering rare disease-related research and collaboration with commercial service providers.”

From Technology Companies

Joanne Kamens, Ph.D
Executive Director, AddGene

Addgene, a BeHEARD technology sponsor, has donated $5000 worth of plasmids for research both in 2013 and for our current 2015 competition. Joanne Kamens, the Executive Director of Addgene, says the process has been rewarding: "As a non-profit, Addgene has a mission to accelerate research and discovery by improving access to research materials and information. We send out tens of thousands of plasmids every year, but don't always get to see the downstream impacts. Our team was excited to be directly connected to researchers and to get a sense of how we could help bring cures to patients."

Addgene is a non-profit organization dedicated to providing the scientific community with open, efficient, and affordable access to plasmid research tools by operating a plasmid repository for the research community. For more information on Addgene, please visit their website.

Sylvia Ernst, Ph.D
Head of Sales and Sales Operations, Collaborative Drug Discovery

Sylvia Ernst is the Head of Sales and Sales Operations at Collaborative Drug Discovery (CDD), which provides services for secure management and sharing of chemical and biological data.  CDD supported BeHEARD as a technology partner in 2013 and 2015 by providing their CDD Vault software for assay data management.

"The CDD Vault gives ordinary people the ability to run research projects as if they are a pharma or biotech company- it democratizes research. So we participate in BeHEARD to give more such projects the tools to be successful", Sylvia explains. "If a worthy cause is being helped, this is special.  It makes our work so much more rewarding than just being "yet another software company". We actually can be a part of helping others to suffer less."

For more information on CDD's Vault software, please see the Features page on their website.

From Scientific Judges

Timothy Schwartz, Ph.D
Director of Research & Development, Genetic Diagnostic Laboratories

RG was pleased to have Timothy Schwartz as our 2015 BeHEARD scientific judge. He has also served as a BeHEARD expert panelist since our first competition in 2012. For Timothy, the most important factors in a winning research proposal are demonstration of financial need, the potential to advance research in a rare disease, and whether the services offered through the BeHEARD challenge are a good match with the needs of the applicant.

"The competition is a unique opportunity to see first-hand how these services and technologies can have a direct impact on patients' lives, something that as scientists we often do not get to experience in our daily biotechnology R&D, operations, and management roles", Timothy says. "BeHEARD 2015 is a great opportunity for so many people to be a part of the effort to treat rare disease, whether you are a patient, patient's family, researcher, clinician, or just someone looking to learn more about this field and help with their micro-funding contribution or social media vote!"