All too often, when we see injustices, both great and small, we think, that's terrible, but we do nothing. We say nothing. We let other people fight their own battles. We remain silent because silence is easier. Qui tacet consentire videtur is Latin for 'Silence gives consent.' When we say nothing, when we do nothing, we are consenting to these trespasses against us.
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Department of Genetic Medicine
The human genome contains about 20,000 protein coding genes distributed over 23 pairs of chromosomes (22 pairs of autosomes and the sex chromosomes, X and Y). Our genes provide the code of life..a blueprint for the processes that program every aspect of an individuals development from a single fertilized egg at the initiation of life to the trillions of cells that make up an adult.
Our genes also encode the mechanisms that maintain normal physiology in an ever-changing environment. The information within genes is determined by the linear sequence of four building blocks, G, A, T and C, which are called nucleotides. These components are arranged in long chain-like molecules that intertwine, forming a double helix that is about two meters in length. All of this is packaged into the nucleus of each of our cells, themselves thousands of times smaller than a raindrop.
Our genetic machinery is the product of more than a billion years of evolution. Understanding this marvelous feat of biology and how it functions in health and disease is a central goal for scientists in the Department of Genetic Medicineand requires a multi-faceted research program.
Johns Hopkins scientists have long been leaders in medical genetics research. The field essentially began in the 1950s with renowned scientist Victor McKusick, who is considered the father of medical genetics and led the world in identifying thousands of inherited diseases and mapping the responsible genes to specific locations on our chromosomes. Legendary geneticist Barton Childs is best known for his quest to get physicians to think about disease in the context of genetics. Nobel laureates Daniel Nathans and Hamilton Smith discovered molecular scissors called restriction enzymes, which revolutionized genetic research by providing a way to map our genome and isolate genetic material and insert it into DNA. These techniques, used continuously by laboratories across the world since Nathan and Smiths discoveries in the 1960s enabled molecular biology and was a precursor is to sequencing the human genome and to the recently identified, targeted gene-cutting tool, CRISPR/CAS9.
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With innovations in genome sequencing over the last two decades, scientists have become very efficient at reading genetic material. Now, researchers are focusing on clinical applications of these advances including interpreting our genetic blueprints, relating these coded instructions to human disease and developing new ways to identify, treat and prevent disease.
The overarching goal of the Department of Genetic Medicineis to integrate genetics into all of medicine. In addition to genetic medicinescientists who study the fundamental links between our genes and disease, the Departmenthas a robust clinical service which operates seven patient clinics along with providing inpatient and outpatient services.
Thus, the Department of Genetic Medicineprovides a highly collaborative, innovative environment where scientists and physicians combine their knowledge to apply basic science discoveries to clinical care.
Facultyfocus on areas that include:
At the Departmentof Genetic Medicine, we take the power of research discoveries at Johns Hopkins and apply this knowledge to patients evaluated in our inpatient and outpatient clinics at The Johns Hopkins Hospital and its affiliates. As part of this effort, we haveexpandedthe size and scope of the services offered by Johns Hopkins Genomics, (JHG) one of the worlds largest centers for DNA genotyping and sequencing. JHG is a collaborative effort between the Departments of Genetic Medicineand Pathology to provide a variety of DNA genotyping and sequencing services, both research and clinical, to the patients, physicians and scientists of Johns Hopkins Medicine.
The Department of Genetic Medicinealso houses research centers with significant funding from the National Institutes of Health that provide services and resources for physicians and researchers at Johns Hopkins and around the world.
Thus, Department of Genetic Medicineresearchers and clinicians, work to move human genetics and its multi-faceted and expanding applications to medicine forward by providing a collaborative and dynamic culture of innovative research and clinical care.
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Research Services | Johns Hopkins Institute of Genetic Medicine
More than 2,000 people of all ages from across the globe seek information, diagnoses and ongoing care from experts at the McKusick-Nathans Institute of Genetic Medicine | Department of Genetic Medicine. The departmentis a hub of genetics knowledge and care that has moved medicine forward to bring decades of research advances to benefit human health. This is where the field of medical genetics was born and developed.
Johns Hopkins genetics experts are leaders and pioneers in their fields. They use the worlds most advanced technology, some of which was developed by our own scientific teams, to diagnose genetic conditions.
Our clinical team includes physicians, genetic counselors, dieticians, nurses, nurse practitioners and physician assistants who coordinate to develop accurate and timely diagnoses.
Our clinics specialize in unraveling the signs and symptoms of conditions to hone in on a diagnosis, whether the condition is extremely rare or more common. Your team is made up of the worlds experts in deciphering these clues to conditions and in managing your care.
Whether you are a newborn or in your retirement years, experts at our clinics will follow your care for life. Your lifelong link to experts at Johns Hopkins will help you stay informed on the latest advances in care for your condition. We also coordinate care with the Kennedy Krieger Institute, other medical centers and your local health care providers.
Our team will help you navigate the complex medical care that people with genetic conditions may need. We will make referrals and help to arrange appointments with specialists who have extensive knowledge and experience in treatments for people with genetic diseases. We work to get insurance coverage for genetic testing as well as additional needs, such as physical and speech therapy, and equipment, such as wheelchair and communication devices. We also help parents of students with genetic diseases work witheducators to meet their childs medical and learning needs.
Visit our COVID-19 resources page for information about what you can do to stay healthy.
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Patient Care | Johns Hopkins Department of Genetic Medicine
Like many medical facilities across the nation, our supply chain is feeling the effects of Hurricane Helenes aftermath. Johns Hopkins Medicine currently has a sufficient sterile fluid supply to meet treatment, surgical and emergency needs. However, we have put proactive conservation measures into place to ensure normal operations, always with patient safety as our first priority. Examples of sterile fluids include intravenous (IV), irrigation and dialysis fluids. Learn more.
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Specialty Clinics | Johns Hopkins Institute of Genetic Medicine
Like many medical facilities across the nation, our supply chain is feeling the effects of Hurricane Helenes aftermath. Johns Hopkins Medicine currently has a sufficient sterile fluid supply to meet treatment, surgical and emergency needs. However, we have put proactive conservation measures into place to ensure normal operations, always with patient safety as our first priority. Examples of sterile fluids include intravenous (IV), irrigation and dialysis fluids. Learn more.
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Pediatric Genetic Medicine at Johns Hopkins Children's Center
The Department of Genetic Medicine maintains several large centers funded in part by the National Institutes of Health. These research resources have a long history at Johns Hopkins and provide the foundation for innovative research, as well as providing services and information to scientists around the world.
OMIM, is an encyclopedia of genetic disorders, their clinical features and the genes that contribute to them. The database contains information on thousands ofMendelian conditions, disorders caused by errors in a single gene. The database was developed 55years ago by Victor McKusick and is now maintained byAda Hamosh, MD, MPH, and her team. OMIM is used by 2.7 million unique users per year around the world.
GRCFprovides year-roundresearch expertise, products, and services for the study of the human genome. At the leading edge of technology, the GRCF provides sophisticated tools and equipment oftentimes not available in individual research labs. The mission of the GRCF is to provide high quality, cost effective research services and products to investigators throughout the Johns Hopkins scientific community. Accordingly, GRCF services cover a broad segment of genetic research including:
JHG provides research and clinical genotyping and sequencing together with extensive analytic expertise. A partnership between the Departments of Genetic Medicineand Pathology, JHG opened its doors in 2017, co-localizing four existing labs:
CIDR,is a national resource, offering sequencing, genotyping and epigenetic services to scientists looking to discover genes and variants that contribute to human disease. As part of Johns Hopkins Genomics, CIDR researchers focus on the genetic architecture of complex traits, looking at conditions that result from many genetic variants and how these variants accumulate to manifest disease. This includes conditions such as all types of cancer risk, eye diseases, cleft lip and palate, oral health, environmental influences on child health outcomes, ADHD, structural brain disorders, obesity, alcoholism and aging. Most recent studies are focused on minority populations or extremely well-phenotyped populations. CIDR facilitates data cleaning and data sharing. The 140 CIDR studies posted in dbGaP are heavily utilized with > 7,600 data requests. Since opening its doors in 1996, CIDR has been continuously funded by contracts from a consortium of ten National Institutes of Health institutes (the CIDR Program) as well as through funding from many other genomic consortia, including most recently the national precision medicine initiative, the All of Us Research Program. As of January 2024, CIDR has completed 1,508 studies, consisting of > 1.7 million DNA samples and encompassing over 200 different phenotypes for 421 principal investigators world-wide.
BHCMGaccepts samples from thousands of peoplewith rare disorders submitted by a worldwide network of rare-disease experts. A collaboration between Baylor College of Medicine and Johns Hopkins, the goal of the center is to sequence the genomes of people with these conditions as well as appropriate family members to identify the genes and variants responsible for disorders whose molecular basis was previously unknown. In particular, the center seeks families with known or novel conditions for which the culprit gene is unknown. Successful identification of the responsible gene connects a particular gene with a particular set of clinical features, thereby enabling precise molecular diagnosis and prognosis.It alsoinforms research on the development of rational treatment and providing families with information about recurrence risk.
Focused on Kabuki syndrome and related Mendelian disorders of the epigenetic machinery. These rare disorders result from mutations in single genes encoding components of the systems that add, interpret or delete epigenetic marks with the result that sets of genes are mis-regulated. Currently we know of more than 40 such epigenetic disorders, most of which have intellectual disability and growth abnormalities as prominent clinical consequences. By understanding the features and pathogenesis of these precise abnormalities of the epigenetic system IGM investigators expect to understand not only each disorder but also to how the whole epigenetic systems functions and the pathophysiological consequences that accrue when the system malfunctions. This research complements the clinical services offered in the IGM Epigenetics and Chromatin Clinic where patients with these disorders are diagnosed, characterized and treated.
Focused on understanding the molecular pathophysiology of the vascular form of Ehlers-Danlos syndrome (vascular EDS) with the aim of providing informed management of these patients as well as developing new forms of therapy. The Center will utilize advanced genetic and molecular methods to discover the sequence of events that contribute to structural weakening of the arterial wall and internal tissues over time, ultimately leading to tear or rupture and the potential for early death. The research team has developed two mouse models of vascular EDS that demonstrate most of the important physical findings seen in patients with the disorder. As in people with vascular EDS, we observe tremendous variation in the timing of onset and severity of vascular disease in our mouse colonies. Our strong belief is that both genetic and environmental factors have the capacity to afford strong protection in vascular EDS. Once identified, we will attempt to mimic the mechanism of protection using medications or other strategies. The Center also aims to coordinate expert clinical care of individuals with vascular EDS, and to promote research in the clinical sciences that will improve both the length and quality of life for affected individuals. The Center for Vascular Ehlers-Danlos Syndrome Research has received generous and visionary funding from a variety of sources including the EDS Network CARES Foundation, the EDS Today Advocates, the DEFY Foundation, the Aldredge Family Foundation, and the Daskal Family Foundation.
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Research Centers | Johns Hopkins Institute of Genetic Medicine
The overall goal of the Department of Genetic Medicine is to integrate genetics into all of medicine. To this end, department of genetic medicine investigators are exploring the role of the genes and genetic variation in the generation of human phenotypes and using this knowledge in various ways to understand biology and to improve health.
The Department of Genetic Medicineclinical service is aimed at providing state-of-the-art care for our patients, as well as contributing to translational, patient-oriented research; providing a set of educational activities for our trainees; and importantly, serving as an exemplar of how genetics informs the care of individual patients. We recognize that for these activities to be successful we also must be active in the education of our students, our colleagues and the public at large.
The Department of Genetic Medicine has a committee on diversity, equity and inclusion. The committee's mission is to promote the personal and professional flourishing of individuals from all backgrounds, perspectives, and abilities. We seek to promote mutual respect and collaboration between individuals of diverse race, ethnicity, culture, physical characteristics, sex and gender identity, religion and nationality.
For Department members: read more on our Sharepoint Intranet site about committee members, events and initiatives.
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About Us - Johns Hopkins Medicine
Like many medical facilities across the nation, our supply chain is feeling the effects of Hurricane Helenes aftermath. Johns Hopkins Medicine currently has a sufficient sterile fluid supply to meet treatment, surgical and emergency needs. However, we have put proactive conservation measures into place to ensure normal operations, always with patient safety as our first priority. Examples of sterile fluids include intravenous (IV), irrigation and dialysis fluids. Learn more.
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Graduate Programs & Training | Johns Hopkins Medicine
To request an appointment in any of our genetics clinics, please call410-955-3071.
If this is your first visit to a genetics clinic at Johns Hopkins, the following steps will help you navigate making an appointment. From start to finish, scheduling an appointment may take up to 10 days, depending on the speed of insurance clearance, receiving records, and other factors.
Call our central appointment line at 410-955-3071. Our staff in the genetics office will walk you through the steps to making an appointment. They will collect general and insurance information about the patient and will send you a medical history questionnaire.
Complete one of the following medical history questionnaires, and fax the completed questionnaire to 410-367-3231.
Your primary care physician can help you complete the questionnaire. Genetic counselors review the questionnaire to determine each persons medical urgency and the appropriate medical providers to schedule the appointment. People with medical urgency who should receive appointments sooner than the general population of our patients include infants under six months of age, children whose physicians diagnosed them as failure to thrive or children who have lost developmental milestones.Generally, our next available appointments are four to six months from the time you first call our appointment line.
Our financial specialists will review your insurance information to confirm that it is active and will cover a visit with a medical geneticist, genetic counselor, dieticianand nurse. They will also help obtain referralsand will determine eligibility and coverage for genetic testing. You can help make this process faster by asking your primary care provider to fax a referral and records to 410-367-3231.
After your questionnaire and insurance status have been reviewed, our scheduling staff will contact you to schedule the first available appointment.
Questions about the status of your appointment?Call the main appointment line at 410-955-3071, Option 1
If you have been seen at one of our genetics clinics within three years, call 410-955-3071, option 2, to schedule your follow-up appointment.
If three or more years have passed since your last appointment at one of our genetics clinics, please follow the instructions for new patients.You will not need to submit a new medical questionnaire. The genetic counselors will review your genetic medical record.
Book follow-up visits early!Available appointments fill quickly, so dont delay in scheduling your next visit.
Johns Hopkins Medicine International pairs you with a medical concierge to arrange all aspects of your medical visit, paying special attention to your personal, cultural and travel-related needs. Your medical concierge can arrange consultations and treatment plans with the most appropriate specialists. Johns Hopkins Medicine International also provides language interpretation, financial counseling, assistance with travel arrangements and anything else to help make Johns Hopkins feel as close to home as possible.
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Request an Appointment | Johns Hopkins Institute of Genetic Medicine
Clemson professor Trudy Mackay elected to the National Academy of Medicine Clemson News
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Clemson professor Trudy Mackay elected to the National Academy of Medicine - Clemson News
Research sheds new light on the behavior of KRAS gene in pancreatic and colorectal cancer News-Medical.Net
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Research sheds new light on the behavior of KRAS gene in pancreatic and colorectal cancer - News-Medical.Net
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon Nature.com
Tailored Genetic Medicine: AAV Gene Therapy and mRNA Vaccines Redefine Healthcare's Future Intelligent Living
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Tailored Genetic Medicine: AAV Gene Therapy and mRNA Vaccines Redefine Healthcare's Future - Intelligent Living
If you have family members with Parkinsons disease, or if you yourself have the disease and are concerned about your childrens chances of developing it, youve probably already wondered: Is there a gene that causes Parkinsons disease? How direct is the link?
About 15 percent of people with Parkinsons disease have a family history of the condition, and family-linked cases can result from genetic mutations in a group of genes LRRK2, PARK2, PARK7, PINK1 or the SNCA gene (see below). However, the interaction between genetic changes, or mutations, and an individuals risk of developing the disease is not fully understood, says Ted Dawson, M.D., Ph.D., director of the Institute for Cell Engineering at Johns Hopkins.
Heres what you need to know:
Theres a long list of genes known to contribute to Parkinsons, and there may be many more yet to be discovered. Here are some of the main players:
SNCA: SNCA makes the protein alpha-synuclein. In brain cells of individuals with Parkinsons disease, this protein gathers in clumps called Lewy bodies. Mutations in the SNCA gene occur in early-onset Parkinsons disease.
PARK2: The PARK2 gene makes the protein parkin, which normally helps cells break down and recycle proteins.
PARK7: Mutations in this gene cause a rare form of early-onset Parkinsons disease. The PARK7 gene makes the protein DJ-1, which protects against mitochondrial stress.
PINK1: The protein made by PINK1 is a protein kinase that protects mitochondria (structures inside cells) from stress. PINK1 mutations occur in early-onset Parkinsons disease.
LRRK2: The protein made by LRRK2 is also a protein kinase. Mutations in the LRRK2 gene have been linked to late-onset Parkinsons disease.
Among inherited cases of Parkinsons, the inheritance patterns differ depending on the genes involved. If the LRRK2 or SNCA genes are involved, Parkinsons is likely inherited from just one parent. Thats called an autosomal dominant pattern, which is when you only need one copy of a gene to be altered for the disorder to happen.
If the PARK2, PARK7 or PINK1 gene is involved, its typically in an autosomal recessive pattern, which is when you need two copies of the gene altered for the disorder to happen. That means that two copies of the gene in each cell have been altered. Both parents passed on the altered gene but may not have had any signs of Parkinsons disease themselves.
Our major effort now is understanding how mutations in these genes cause Parkinsons disease, says Dawson. SNCA, the gene responsible for making the protein that clumps in the brain and triggers symptoms, is particularly interesting.
Our research is trying to understand how alpha-synuclein works, how it travels through the brain, says Dawson. The latest theory is that it transfers from cell to cell, and our work supports that idea. Weve identified a protein that lets clumps of alpha-synuclein into cells, and we hope a therapy can be developed that interferes with that process.
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The Genetic Link to Parkinson's Disease - Hopkins Medicine
Ovid Therapeutics has struck a deal with young biotechnology company Gensaic, hoping the startups method of delivering genetic medicines can yield new brain drugs.
Under the deal, the partners will develop up to three gene-based treatments for neurological conditions Ovid is targeting. The New York biotech will get rights to license any gene therapies that emerge from the deal, so long as the two can agree on terms. Ovid also invested $5 million in the startup and committed to participate in future financing rounds.
The deal is the latest step in a rebuilding plan for Ovid, a biotech former Teva and Bristol Myers Squibb executive Jeremy Levin formed seven years ago.
Levins plan in starting Ovid was to grab medicines overlooked elsewhere, license them and develop them for rare brain diseases. That strategy led Ovid to two medicines the company developed for Angelmans syndrome and rare forms of epilepsy, and helped the biotech to go public in 2017.
Ovid hasnt been successful, however. The Angelmans drug failed a Phase 3 trial in 2020, erasing more than half of the companys value. One year later, Ovid, aiming to bolster its dwindling cash reserves, sold rights to the epilepsy drug back to Takeda. Though Ovid can still receive milestone payments and royalties from the drug, which is now in late-stage testing, its only remaining in-house programs are in preclinical testing. At just over $2 apiece, shares trade near all-time lows.
Recently, Ovid has taken steps to restock its pipeline. One experimental medicine for treatment-resistant epileptic seizures could start human trials later this year, while a licensing deal with AstraZeneca and a related partnership with Tufts University could yield other drug candidates that might follow in 2024.
The alliance with Gensaic adds up to three more prospects, while pushing Ovid into the field of gene therapy.
Gensaic was seeded in 2021 as M13 Therapeutics and is currently housed in Cambridge, Massachusetts biotech startup incubator LabCentral. Over the past two years, the company has won awards in multiple startup competitions for its research into a method of gene therapy delivery designed to overcome the limitations of standard approaches.
Many gene therapies rely on modified viruses to send genetic instructions into the bodys cells. Those delivery vehicles are used in multiple products approved for rare inherited diseases, but they also come with weaknesses, too. One commonly used tool, the adeno-associated virus, can only carry a relatively small amount of genetic cargo and is sometimes shut down by the body. Another, the lentivirus, also has limited packaging capacity and has been linked in rare cases to the development of cancers.
Gensaic instead aims to use tiny particles derived from phages, the viruses that infect bacteria, to deliver genetic material. Gensaic claims these particles can be engineered to target multiple tissue types among them the lung and brain and can carry much larger genes. Gensaic believes they may have the potential to be administered more than once, too, though that hasnt yet been proven.
In a statement, Levin said the approach appears to be optimal for carrying substantial genetic cargo across the blood-brain barrier, a filtering mechanism the body uses to keep foreign substances out of the brain.
We believe it may hold the potential to treat a broad continuum of diseases in the brain, Levin said.
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Ovid turns to gene therapy startup to restock drug pipeline - BioPharma Dive
CRISPR-Cas9 genome editing has changed the game for gene therapy, but carries safety risks when cutting DNA. The new U.S. firm Epic Bio aims to reduce these risks by targeting epigenetic controls on gene expression.
The development of the genome-editing tool CRISPR-Cas9 caused a paradigm shift in the biotech industry because it made it easier than ever to make small edits to the genetic code. The tool is also being tested in clinical trials to see if it can form the basis of gene and cell therapies for conditions including genetic blindness, cancer and blood disorders.
However, CRISPR-Cas9 gene editing also has its limitations. One is that the Cas9 protein used to cut DNA molecules can also make permanent cuts in unexpected parts of the genome, which could be dangerous for the cell. Another is that the CRISPR-Cas9 machinery is too large to deliver into the patients body using adeno-associated viral (AAV) vectors, the most common delivery method for gene therapies.
To overcome the obstacles for CRISPR-Cas9 gene editing, the startup Epic Bio was launched in July 2022 with an impressive Series A round worth $55 million. The firm, based in San Francisco, U.S., is developing gene therapies based on editing the epigenome, a biological system that cells use to control which genes become proteins.
Epic Bios therapies involve fusing together a protein that binds to DNA with a so-called modulator protein that can make epigenetic changes to the DNA molecule. This construct is directed to a target site in the genome using a customized guide RNA molecule. Epic Bios technology is dubbed Gene Expression Modulation System, or GEMS for short.
CRISPR-Cas9 binds and cuts the DNA whereas GEMS binds and modifies the chemistry of DNA without changing the genetic code, explained Amber Salzman, CEO of Epic Bio. This allows fine-tuning gene expression and avoids the risks of cutting DNA.
Epic Bio is deploying its epigenome-editing therapies in a range of rare diseases such as facioscapulohumeral muscular dystrophy, heterozygous familial hypercholesterolemia, and forms of retinitis pigmentosa. In each case, the therapy is designed to correct harmful epigenetic changes to genes that are linked to the disease.
Epic Bio aims to prepare for clinical testing by the end of 2023. According to Salzman, earlier generations of gene therapy technology have struggled to treat these diseases as they arent precise enough to hit the target site in the genome.
By leveraging CRISPR and sequence-specific guide RNAs to home to target sequences, Epic Bio can address limitations of specificity, said Salzman. Similarly, robust and durable activators and suppressors are needed to drive desired target gene behaviors. Epic Bio has the largest library of such precise epigenetic modulators to address this challenge.
Another problem with gene editing therapies is that its tough to deliver them to the patient in vivo because AAV vectors can only carry a small amount of genetic cargo. To get around this problem, Epic Bio licensed a tiny DNA-binding protein called CasMINI from Stanford University, which allows the companys gene therapies to fit on a single AAV vector.
Today, AAV is the most validated vector to deliver genetic medicine in vivo, and our therapies can fit in an AAV, explained Salzman. She added that the main alternative delivery method, via lipid nanoparticles, is currently limited to targeting the liver.
Because of the small size of CasMINI, that leaves more room for guide RNAs and multiple modulators that could perhaps regulate multiple genes at a time.
Epic Bio is one of several biotech players that have kicked off in the epigenome editing space. Chroma Medicine launched in late 2021 with a neat $125 million investment. This was swiftly followed by Tune Therapeutics, which debuted with $40 million. As it launched, Chroma Medicine also acquired another epigenome editing specialist, the Italian firm Epsilen Bio.
Epigenome editing remains an emerging therapeutic field with a lot of challenges. For example, its crucial to make sure the target sequence is verified when making epigenetic changes, and companies need to avoid the bodys own DNA repair systems reversing the edits. Nonetheless, the technology has a lot of potential to treat conditions that have been out of reach of traditional gene therapies.
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Epic Bio makes gene therapies by editing the epigenome - Labiotech.eu
Clinical features of patients
Between 2015 and 2017, a total of 177 patients (81 males; median [range] age, 4 [030] years) from 169 families were referred to the TOKAI-IRUD program. All patients registered in this study were new patients, i.e., those who had not been previously analyzed for comprehensive genomic variants; however, several patients have been included in a few subsequent investigations19,20,21,22.
The TOKAI-IRUD program is open to the possibility of accepting any patient. The clinical symptoms of the applicants were global developmental delay (HP: 0001263; n=95, 54%), seizures (HP: 0001250; n=40, 23%), intellectual disability (HP: 0001249; n=29, 16%), muscular hypotonia (HP: 0001252; n=24, 14%), dysmorphic facial features (HP: 0001999; n=17, 9.6%), short stature (HP: 0004322; n=14, 7.9%), microcephaly (HP: 0000252; n=11, 6.2%), and others (n=38, 21%) (Table 1, Supplementary Table S2, and Supplementary Table S3).
In accordance with ACMG guidelines, pathogenic SNVs were identified in 36 (20%) patients. Furthermore, 30 (17%) patients carried SNVs classified as likely pathogenic based on clinical validity assessment and consistency in clinical information and phenotypes with applicable diseases. Among 66 patients with pathogenic or likely pathogenic SNVs, 47 had autosomal dominant genetic disorders, seven had autosomal recessive genetic disorders, eight had X-linked dominant genetic disorders, and four had X-linked recessive genetic disorders (Fig.1).
Patient characteristics and information on detected variants. Each column indicates one patient. SNV single-nucleotide variant, CNV copy number variant, UPD uniparental disomy, AD autosomal dominant, AR autosomal recessive, XLD X-linked dominant, XLR X-linked recessive.
Copy number analysis identified diagnostic duplication/deletion in 11 (6.2%) patients, and these included a 10q26.3 deletion (TOKAI-IRUD-1135 and TOKAI-IRUD-1273), 22q11.2 duplication (TOKAI-IRUD-1236), 5q14.3 deletion (TOKAI-IRUD-1252), 47,XXY (TOKAI-IRUD-1297), 1p36 deletion (TOKAI-IRUD-1301), 7q11.23 duplication (TOKAI-IRUD-1321), 19p13.13 deletion (TOKAI-IRUD-1335), 16p13.3 duplication (TOKAI-IRUD-1337), 17p11.2 duplication (TOKAI-IRUD-1343), and 4p16.3 deletion (TOKAI-IRUD-1475).
ROH analysis identified homozygous regions larger than 10Mb in 105 cases; this included a diagnostic upd(15)pat in 1 patient (0.6%) who was diagnosed with Angelman syndrome (TOKAI-IRUD-1290, OMIM #105830). Furthermore, UPD of a whole chromosome was identified in 2 (1.1%) patients [upd(2)pat; TOKAI-IRUD-1249 and upd(3)pat; TOKAI-IRUD-1180] with no diagnostic SNVs or CNVs. Thus, genetic diagnoses were obtained for 78 of 177 (44%) patients, and of these, 10 (13%) cases were diagnosed with diseases recognized after 2015, i.e., when this project was initiated. A considerable number of patients showed a milder phenotype (26 [33%]), a more severe phenotype (9 [12%]), or an atypical complex phenotype (17 [22%]) compared to conventional clinical presentation of the respective disease.
TOKAI-IRUD-1290 with upd(15)pat: The patient, a 2-year-old boy at the time of sample submission, was the third of three children of healthy non-consanguineous parents (Fig.2b). Gyrus dysplasia, suspected since the fetal period, was confirmed by magnetic resonance imaging (MRI) after birth (Fig.2a). He was tube fed due to difficulties with oral intake and a tracheostomy was performed after repeated aspiration pneumonia. He also had congenital hydronephrosis, congenital hypothyroidism, gastroesophageal reflux disease, developmental delay, epilepsy, deafness, and laryngotracheomalacia. ROH analysis identified a paternal UPD region over the entire length of the long arm of chromosome 15 [upd(15)pat], covering the region of the UBE3A gene, which led to a diagnosis of Angelman syndrome (OMIM#105830) (Fig.2b). Additionally, 11 homozygous rare variants were identified in a paternally derived UPD region, which included a DUOX2 (c.G1560C, p.E520D) variant. DUOX2 is a known causative gene for congenital hypothyroidism, but this particular variant has not been previously reported.
Clinical features and results of UPD analysis of TOKAI-IRUD-1290. (a) Brain MRI at the age of 2years showing cortical dysplasia of the temporal lobes (arrowheads) and corpus callosum dysgenesis (arrow). (b) Results of UPD analysis. A paternally inherited UPD region over the entire length of the long arm of chromosome 15 [upd(15)pat] was identified, which covers the region of the UBE3A gene. (c) H2O2-producing capacity of the DUOX2 proteins was measured with Amplex Red reagent in the presence of co-expressed DUOXA2-FLAG. The activity of the mutants were standardized based on those of the WT (100%) and mock-transfected control (0%). Data are representative of three independent experiments (each performed in triplicate) with similar results. T-bars indicate standard errors of the mean.*p<0 05 vs. WT (Welchs t-test). (d) Subcellular localization analysis using HA-tagged DUOX2 constructs (WT or E520D; green fluorescence). (e) Fluorescence immunostaining under permeabilized conditions revealed that the localization of E520D-DUOX2 was consistent with DUOXA2.
To verify the pathogenicity of the DUOX2 p.E520D missense substitution detected in this case, expression experiments were conducted using HEK293 cells wherein the H2O2-producing capacity of the E520D mutant in the presence of co-expressed DUOXA2-FLAG was evaluated. We show that the E520D mutant showed complete loss of H2O2-producing activity (Fig.2c). Visualization of subcellular localization using immunofluorescence revealed substantial differences in membrane expression levels between the WT and E520D mutant (Fig.2d,e), indicating that protein localization was affected by the missense substitution.
TOKAI-IRUD-1180 with upd(3)pat: This patient, a 3-year-old girl at the time of sample submission, was the only child of healthy non-consanguineous parents. She suffered seizures beginning on day 1 after birth and symptomatic epilepsy was suspected based on abnormalities detected on an electroencephalogram. However, the seizures ceased from day 14, when oral administration of phenobarbital was initiated. She was unable to sit and had poor language understanding at the time of sample submission. ROH analysis revealed a full-length UPD of chromosome 3 [upd(3)pat], and although 40 homozygous rare missense variants were identified on chromosome 3, it was not possible to arrive at a genetic diagnosis by WES analysis.
TOKAI-IRUD-1249 with upd(2)pat: The patient, a 4-month-old girl at the time of sample submission, was the only child of healthy non-consanguineous parents. A prenatal MRI confirmed hydrocephalus. She was born by scheduled cesarean section at gestational week 34 and suffered from deafness, bilateral club feet, bilateral hip dislocation, multiple joint contractures, congenital hydrocephalus, ventricular septal defect, developmental delay, short and mildly curved femurs, a bell-shaped rib cage, and a vagina without an external opening. ROH analysis revealed a full-length UPD of chromosome 2 [upd(2)pat]. She died of aspiration pneumonia at the age of 10months, and although 34 rare homozygous missense variants and one nonsense variant were identified on chromosome 2, WES analysis did not lead to a genetic diagnosis.
One pathogenic variant of a gene included in the ACMG recommendations for reporting incidental findings was detected in one patient (TOKAI-IRUD-1150), viz, c.C6952T in BRCA2. Additionally, discordant parentchild relationships were identified in three families.
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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases | Scientific Reports - Nature.com
First Gene Therapy for Adults with Severe Hemophilia A, BioMarin's ROCTAVIAN (valoctocogene roxaparvovec), Approved by European Commission (EC)
Maintains Orphan Drug Designation (ODD) in the EU Providing 10-years of Market Exclusivity
Significant BenefitOver Existing Therapies for Patients with Severe Hemophilia A in EU Based on EMA Determination of ODD
Conference Call and Webcast to be Held Wed., Aug. 24th at 8:00 pm Eastern
SAN RAFAEL, Calif., Aug. 24, 2022 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (NASDAQ: BMRN) today announced that the European Commission (EC) has granted conditional marketing authorization (CMA) to ROCTAVIAN (valoctocogene roxaparvovec) gene therapy for the treatment of severe hemophilia A (congenital Factor VIII deficiency) in adult patients without a history of Factor VIII inhibitors and without detectable antibodies to adeno-associated virus serotype 5 (AAV5). The EC also endorsed EMA's recommendation for Roctavian to maintain orphan drug designation, thereby granting a 10-year period of market exclusivity. The EMA recommendation noted that, even in light of existing treatments, Roctavian may potentially offer a significant benefit to those affected with severe Hemophilia A. The one-time infusion is the first approved gene therapy for hemophilia A and works by delivering a functional gene that is designed to enable the body to produce Factor VIII on its own without the need for continued hemophilia prophylaxis, thus relieving patients of their treatment burden relative to currently available therapies. People with hemophilia A have a mutation in the gene responsible for producing Factor VIII, a protein necessary for blood clotting.
It is estimated that more than 20,000 adults are affected by severe hemophilia A across more than 70 countries in Europe, the Middle East, and Africa. Of the 8,000 adults with severe hemophilia A in the 24 countries within BioMarin's footprint covered by today's EMA approval, there are an estimated 3,200 patients who will be indicated for Roctavian. BioMarin anticipates additional access to ROCTAVIAN for patients outside of the EU through named patient sales based on the European Medicines Agency (EMA) approval in countries in the Middle East, Africa and Latin America and expects additional market registrations to be facilitated by the EMA license.
"This approval in the EU represents a medical breakthrough in the treatment of patients with severe hemophilia A that expands the conversation between a patient and physician on treatment choices to now include a one-time infusion that protects from bleeds for several years," said Professor Johannes Oldenburg, Director of the Institute of Experimental Haematology and Transfusion Medicine and the Haemophilia Centre at the University Clinic in Bonn, Germany. "It is exciting to imagine the possibilities of this approved gene therapy, which has demonstrated a substantial and sustained reduction in bleeding for patients, who potentially could be freed from the burden of regular infusions."
"Roctavian approval in Europe is a historic milestone in medicine and is built upon almost four decades of scientific discovery, innovation, and perseverance. We thank the European Commission for recognizing Roctavian's value as the first gene therapy for hemophilia A, a feat that we believe will transform how healthcare professionals and the patient community think about caring for bleeding disorders," said Jean-Jacques Bienaim, Chairman and Chief Executive Officer of BioMarin. "We are grateful to the patients, investigators and community, who dedicated their time and effort to this achievement and whose aspirations provided the driving force behind making this one-time therapy a reality."
The EC based its decision on a significant body of data from the Roctavian clinical development program, the most extensively studied gene therapy for hemophilia A, including two-year outcomes from the global GENEr8-1 Phase 3 study. The GENEr8-1 Phase 3 study demonstrated stable and durable bleed control, including a reduction in the mean annualized bleeding rate (ABR) and the mean annualized Factor VIII infusion rate. In addition, the data included five and four years of follow-up from the 6e13 vg/kg and 4e13 vg/kg dose cohorts, respectively, in the ongoing Phase 1/2 dose escalation study. BioMarin has committed to continue working with the broader community and the EMA to monitor the long-term effects of treatment. The Product Information will be available shortly on the EMA website under the Medicines tab. Search for "ROCTAVIAN" and select "Human medicine European public assessment report (EPAR): Roctavian. Then select "Product Information" in the Table of Contents and then select "Roctavian: EPAR Product Information."
A Conditional Marketing Authorization (CMA) recognizes that the medicine fulfils an unmet medical need based on a positive benefit-risk assessment, and that the benefit to public health of the immediate availability on the market outweighs the uncertainties inherent to the fact that additional data are still required. BioMarin will provide further data from ongoing studies within defined timelines to confirm that the benefits continue to outweigh the risks, building on what already constitutes the largest clinical data package for gene therapy in hemophilia A. Conversion to a standard marketing authorization will be contingent on the provision of additional data from currently ongoing Roctavian clinical studies, including longer-term follow up of patients enrolled in the pivotal trial GENEr8-1, as well as a study investigating efficacy and safety of ROCTAVIAN with prophylactic use of corticosteroids (Study 270-303), for which enrollment is now complete.
Orphan drug designation is reserved for medicines treating rare (affecting not more than five in 10,000 people in the EU), life-threatening or chronically debilitating diseases. Authorized orphan medicines benefit from ten years of market exclusivity, protecting them from competition with similar medicines with the same therapeutic indication, which cannot be marketed during the exclusivity period.
BioMarin remains committed to bringing Roctavian to eligible patients with severe hemophilia A in the United States and is targeting a Biologics License Application (BLA) resubmission for Roctavian by the end of September 2022. Typically, BLA resubmissions are followed by a six-month review procedure. However, the Company anticipates three additional months of review may be necessary based on the number of data read-outs that will emerge during the procedure.
Robust Clinical Program
BioMarin has multiple clinical studies underway in its comprehensive gene therapy program for the treatment of hemophilia A. In addition to the global Phase 3 study GENEr8-1 and the ongoing Phase 1/2 dose escalation study, the Company is also conducting a Phase 3B, single arm, open-label study to evaluate the efficacy and safety of Roctavian at a dose of 6e13 vg/kg with prophylactic corticosteroids in people with hemophilia A (Study 270-303). Also ongoing are a Phase 1/2 Study with the 6e13 vg/kg dose of Roctavian in people with hemophilia A with pre-existing AAV5 antibodies (Study 270-203) and aa Phase 1/2 Study with the 6e13 vg/kg dose of Roctavian in people with hemophilia A with active or prior Factor VIII inhibitors (Study 270-205).
Safety Summary
Overall, single 6e13 vg/kg dose of Roctavian has been well tolerated with no delayed-onset treatment related adverse events. The most common adverse events (AE) associated with Roctavian occurred early and included transient infusion associated reactions and mild to moderate rise in liver enzymes with no long-lasting clinical sequelae. Alanine aminotransferase (ALT) elevation (113 participants, 80%), a laboratory test of liver function, remained the most common adverse drug reaction. Other adverse reactions included aspartate aminotransferase (AST) elevation (95 participants, 67%), nausea (52 participants, 37%), headache (50 participants, 35%), and fatigue (42 participants, 30%). No participants developed inhibitors to Factor VIII, thromboembolic events or malignancy associated with Roctavian.
About Hemophilia A
People living with hemophilia A lack sufficient functioning Factor VIII protein to help their blood clot and are at risk for painful and/or potentially life-threatening bleeds from even modest injuries. Additionally, people with the most severe form of hemophilia A (Factor VIII levels <1%) often experience painful, spontaneous bleeds into their muscles or joints. Individuals with the most severe form of hemophilia A make up approximately 50 percent of the hemophilia A population. People with hemophilia A with moderate (Factor VIII 1-5%) or mild (Factor VIII 5-40%) disease show a much-reduced propensity to bleed. Individuals with severe hemophilia A are treated with a prophylactic regimen of intravenous Factor VIII infusions administered 2-3 times per week (100-150 infusions per year) or a bispecific monoclonal antibody that mimics the activity of Factor VIII administered 1-4 times per month (12-48 infusions per year). Despite these regimens, many people continue to experience breakthrough bleeds, resulting in progressive and debilitating joint damage, which can have a major impact on their quality of life.
Hemophilia A, also called Factor VIII deficiency or classic hemophilia, is an X-linked genetic disorder caused by missing or defective Factor VIII, a clotting protein. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a new mutation that was not inherited. Approximately 1 in 10,000 people have hemophilia A.
Conference Call and Webcast to be Held Wed., Aug. 24th at 8:00 pm Eastern
BioMarin will host a conference call and webcast to discuss the EC approval today, Wed., Aug. 24th at 8:00 pm Eastern. This event can be accessed in the investor section of the BioMarin website at https://investors.biomarin.com/events-presentations.
U.S./Canada Dial-in Number: 800-831-4163
Replay Dial-in Number: 800-645-7964
International Dial-in Number: 213-992-4616
Replay International Dial-in Number: 757-849-6722
(No ID required for live call)
Playback ID: 9184
About BioMarin
BioMarin is a global biotechnology company that develops and commercializes innovative therapies for people with serious and life-threatening genetic diseases and medical conditions. The Company selects product candidates for diseases and conditions that represent a significant unmet medical need, have well-understood biology and provide an opportunity to be first-to-market or offer a significant benefit over existing products. The Company's portfolio consists of eight commercial products and multiple clinical and preclinical product candidates for the treatment of various diseases. For additional information, please visit http://www.biomarin.com.
Forward-Looking Statements
This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc. (BioMarin), including without limitation, statements about: the number of adults across Europe, the Middle East, and Africa who are affected by severe hemophilia A; the number of adults in the countries within BioMarin's footprint covered by the EMA approval who have severe hemophilia A and are indicated for Roctavian; BioMarin anticipating additional access to Roctavian for patients outside of the EU through named patient sales based on the EMA approval in countries in the Middle East, Africa and Latin America and the expectation that additional market registrations will be facilitated by the EMA license; the potential for Roctavian to be a one-time infusion protecting patients from bleeds for several years and freeing them from the burden of regular infusions; Roctavian potentially offering a significant benefit to those affected with severe hemophilia A; Roctavian potentially transforming how healthcare professionals and the patient community think about caring for bleeding disorders; BioMarin's plans to provide further data from ongoing studies within defined timelines to confirm that the benefits of Roctavian continue to outweigh the risks; conversion of Roctavian's CMA to a standard marketing authorization; BioMarin's plans to re-submit a BLA for Roctavian to the FDA by the end of September 2022; and the duration of the FDA's review procedure of BioMarin's BLA resubmission for Roctavian. These forward-looking statements are predictions and involve risks and uncertainties such that actual results may differ materially from these statements. These risks and uncertainties include, among others: the results and timing of current and planned preclinical studies and clinical trials of Roctavian; additional data from the continuation of the clinical trials of Roctavian, any potential adverse events observed in the continuing monitoring of the participants in the clinical trials; the content and timing of decisions by the FDA, the EC and other regulatory authorities, including decisions to grant additional marketing registrations based on an EMA license; the content and timing of decisions by local and central ethics committees regarding the clinical trials; our ability to successfully manufacture Roctavian for the clinical trials and commercially; our ability to provide the additional data from currently ongoing Roctavian clinical studies to support the conversion from a CMA to a standard marketing authorization; and those and those factors detailed in BioMarin's filings with the Securities and Exchange Commission (SEC), including, without limitation, the factors contained under the caption "Risk Factors" in BioMarin's Quarterly Report on Form 10-Q for the quarter ended June 30, 2022 as such factors may be updated by any subsequent reports. Stockholders are urged not to place undue reliance on forward-looking statements, which speak only as of the date hereof. BioMarin is under no obligation, and expressly disclaims any obligation to update or alter any forward-looking statement, whether as a result of new information, future events or otherwise.
BioMarin is a registered trademark of BioMarin Pharmaceutical Inc and ROCTAVIAN is a trademark of BioMarin Pharmaceutical Inc.
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First Gene Therapy for Adults with Severe Hemophilia A, BioMarin's ROCTAVIAN (valoctocogene roxaparvovec), Approved by European Commission (EC) -...
CAMBRIDGE, Mass., Aug. 25, 2022 (GLOBE NEWSWIRE) --Arbor Biotechnologies, Inc. a biotechnology company discovering and developing the next generation of genetic medicines, today announced that it has entered into an agreement with Acuitas Therapeutics, a leader in the development of lipid nanoparticles (LNP).
As part of the agreement, the companies will combine the optimized delivery of Acuitas' highly validated LNP technology with Arbors differentiated, proprietary CRISPR gene editing technology designed for use in vivo in patients with rare liver diseases.
We are building a robust, proprietary portfolio of genomic medicines, beginning with severe liver diseases, for which LNPs are known to provide an optimal delivery approach with their ability to efficiently target hepatocytes, limit off target toxicity and have minimal immunogenicity. We are looking forward to working with Acuitas, a leading global developer of clinically-validated LNP technology, said Devyn Smith, Ph.D., CEO, Arbor Biotechnologies. Importantly, we believe this partnership accelerates our path to the clinic, with an ability to leverage established and scalable manufacturing.
Commented Dr. Thomas Madden, President & CEO of Acuitas Therapeutics: We are excited to collaborate with Arbor on the development of novel genomic medicines for patients who currently have few, if any, therapeutic options. Arbors commitment to addressing this unmet clinical need resonates with Acuitas. We look forward to supporting their advance into the clinic.
About Arbor BiotechnologiesArbor Biotechnologies is a next-generation gene editing company focused on discovering and developing potentially curative genomic medicines. Founded by Feng Zhang, David Walt, David Scott, and Winston Yan, our proprietary discovery engine is focused on discovering genetic editing capabilities spanning knockdowns to whole gene insertions, which has enabled us to generate the most extensive toolbox of proprietary genomic editors in the industry to date. Leveraging our wholly-owned nucleases as the chassis for genetic modification, we can work backward from disease pathology to choose the optimal editing approach that specifically addresses the underlying cause of disease, resulting in a potentially curative medicine for a wider range of genetic disorders. As Arbor continues to advance its pipeline toward the clinic with an initial focus in liver and CNS disease, the Company has also secured several partnerships around gene editing and ex vivo cell therapy programs to broaden the reach of its novel nuclease technology. For more information, visit arbor.bio.
About Acuitas TherapeuticsFounded in February 2009, Vancouver-based Acuitas Therapeutics (www.acuitastx.com) is a private biotechnology company that specializes in the development of delivery systems for nucleic acid therapeutics based on lipid nanoparticles. The company partners with pharmaceutical and biotechnology companies, as well as non-governmental organizations and academic institutes to advance nucleic acid therapeutics into clinical trials and to the marketplace. The team works with partners to develop new therapies to address unmet clinical needs based on its internationally recognized capabilities in delivery technology. Acuitas Therapeutics has agreements in place with several partners to use its proprietary lipid nanotechnology in the development of COVID-19 vaccines. These include Pfizer/BioNTech for COMIRNATY, which has received full approval in the U.S. and Canada and is authorized for Emergency Use in Europe, the UK and many other countries. The Acuitas team is currently working on therapeutics focused on addressing cancer, HIV/AIDS, tuberculosis, malaria, rabies, and other serious diseases.
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MediaAmy Bonanno, Solebury Troutabonanno@soleburytrout.com914-450-0349
Investor RelationsAlexandra Roy, Solebury Troutaroy@soleburytrout.com617-221-9197
WALTHAM, Mass.--(BUSINESS WIRE)--ElevateBio, LLC (ElevateBio), a technology-driven company focused on powering transformative cell and gene therapies, today announced that it has partnered with the California Institute for Regenerative Medicine (CIRM) to advance the discovery and development of regenerative medicine as part of CIRMs Industry Alliance Program. Through the partnership, ElevateBio will provide access to high quality, well-characterized iPSC lines to academic institutions and biopharmaceutical companies that are awarded CIRM Discovery and Translational Grants. ElevateBio will also offer access to its viral vector technology, process development, analytical development, and Good Manufacturing Practice (GMP) manufacturing capabilities that are part of its integrated ecosystem built to power the cell and gene therapy industry.
This exciting partnership with CIRM reflects the novelty of our iPSC platform and recognition of our next-generation cell lines that address industry challenges and could potentially save time and costs for partners developing iPSC-derived therapeutics, said David Hallal, Chairman and Chief Executive Officer of ElevateBio. We are setting a new standard with iPSCs that can streamline the transition from research to clinical development and commercialization and leveraging our unique ecosystem of enabling technologies and expertise to help strategic partners harness the power of regenerative medicines.
With $5.5 billion in funding from the state of California, CIRM has funded 81 clinical trials and currently supports over 161 active regenerative medicine research projects spanning candidate discovery through phase III clinical trials. As part of CIRMs expansion of its Industry Alliance Program to incorporate Industry Resource Partners, this partnership will provide CIRM Awardees the option to license ElevateBios iPSC lines produced in xeno-free, feeder-free conditions using non-integrating technologies and have the ability to gain access to other enabling technologies, including gene editing, cell and vector engineering, and end-to-end services within ElevateBios integrated ecosystem, which are essential for driving the development of regenerative medicines.
About ElevateBio:
ElevateBio is a technology-driven company built to power the development of transformative cell and gene therapies today and for many decades to come. The company has assembled industry-leading talent, built state-of-the-art facilities, and integrated diverse technology platforms, including gene editing, induced pluripotent stem cells (iPSCs), and protein, vector, and cellular engineering, necessary to drive innovation and commercialization of cellular and genetic medicines. In addition, BaseCamp is a purpose-built facility offering process innovation, process sciences, and current Good Manufacturing Practice (cGMP) manufacturing capabilities. Through BaseCamp and its enabling technologies, ElevateBio is focused on growing its collaborations with industry partners while also developing its own portfolio of cellular and genetic medicines. ElevateBio's team of scientists, drug developers, and company builders are redefining what it means to be a technology company in the world of drug development, blurring the line between technology and healthcare.
ElevateBio is located in Waltham, Mass. For more information, visit us at http://www.elevate.bio, or follow Elevate on LinkedIn, Twitter, or Instagram.
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