Category Archives: Gene Medicine

It is well known that neurofibromin (NF1), a tumor suppressor produced by the NF1 gene, keeps cancer growth in check by repressing the activity of a cancer driver gene called Ras. It then follows that when NF1 is lost, Ras can drive cancer growth by promoting treatment resistance and metastasis. NF1, however, can do more than regulate Ras.

Drs. Eric C. Chang, Matthew Ellis and Zeyi Zheng at Baylor College of Medicine and their colleagues have discovered new insights into the function of neurofibromin that improve our understanding of breast cancer resistance and suggest novel therapeutic approaches to overcome it.

The team first studied the importance of neurofibromin loss in a study they published in 2018. In this study, they sequenced tumor DNA seeking for mutations that can promote resistance to tamoxifen, a drug commonly used to prevent relapses from estrogen receptor positive (ER+) breast cancer.

When we examined the mutational patterns in NF1, we observed that poor patient outcome only occurred when neurofibromin was lost, not through mutations that selectively affect Ras regulation. This suggested that neurofibromin may have more than one function, said Chang, co-corresponding author of this work and associate professor in the Department of Molecular and Cellular Biology and a member in the Dan L Duncan Comprehensive Cancer Centers Lester and Sue Smith Breast Center.

This thought triggered studies, spearheaded by Zheng in Changs lab, into the function of neurofibromin in ER+ breast cancer cells. One of his early experiments showed that when expression of NF1 is inhibited (to mimic neurofibromin loss in tumors), the resulting ER+ breast cancer cells were stimulated by tamoxifen instead of inhibited, as it usually happens. Furthermore, these neurofibromin-depleted cells became sensitive to a very low concentration of estradiol, a form of estrogen.

The clinical relevance of these findings was immediately apparent because it suggested that tamoxifen or aromatase inhibitors, which lower estrogen levels available to the cancer cells, would be the wrong choice for treatment when neurofibromin is lost by the tumor, said Ellis, co-corresponding author and professor and director of the Lester and Sue Smith Breast Center. Dr. Ellis also is a McNair Scholar at Baylor.

Follow-up gene expression studies all strongly suggested that neurofibromin behaves like a classic ER co-repressor.

A co-repressor must bind ER directly, but the group hesitated to conduct such an experiment without more evidence because it is not trivial to do so, Chang said.

A breakthrough came when Dr. Charles Foulds, a co-author on the paper and assistant professor at the Center for Precision Environmental Health at Baylor, searched the Epicome, a massive proteomic database created by Dr. Anna Malovannaya and Dr. Jun Qin, also at Baylor. This is a part of an effort by Dr. Bert OMalley, chancellor and professor of Baylors Department of Molecular and Cellular Biology to comprehensively document all the proteins associated with ER.

Foulds found neurofibromin in the database, which encouraged the team to ultimately investigate whether estrogen receptor and neurofibromin interacted directly. However, to seriously consider NF1 as an ER co-repressor, there was still another missing piece of the puzzle.

One day Charles casually asked me whether neurofibromin had a region rich in the amino acids leucine and isoleucine, because co-repressors use these regions or motifs to bind ER, and it dawned on me that neurofibromin indeed does, Chang said. In fact, neurofibromin has two such motifs that mediate ER binding in a cooperative manner. These motifs are frequently mutated in cancer, but are not required for Ras regulation.

Since tamoxifen or aromatase inhibitors were found to be ineffective for neurofibromin-deficient ER+ breast cancer tumors, the researchers worked with animal models to determine whether the ER-degrading drug fulvestrant was still effective. However, fulvestrant only temporarily inhibited tumor growth because secondary Ras-dependent fulvestrant resistance was induced by neurofibromin loss. This Ras-dependent growth phase could be inhibited with the addition of a MEK inhibitor, which shuts off a key signaling pathway downstream of Ras.

The team validated this combination treatment strategy using a patient-derived xenograft (PDX) mouse model. In this model, a section of a human tumor taken from a patient is directly transplanted into a mouse under conditions that maintain the genomics and drug response of the original human tumor from which it was derived (Cell Reports, 2013). In this case, this PDX was derived from a patient who failed several lines of endocrine therapy and had already developed fulvestrant resistance.

The results of the combination of fulvestrant to degrade ER and a MEK inhibitor (e.g., selumetinib or binimetinib) to inhibit Ras downstream signaling, were encouraging the tumor shrunk to almost undetectable levels, Chang said.

Our next goal is to test this combination therapy in clinical trials in order to determine its therapeutic potential in the clinic.

Neurofibromin is lost in at least 10 percent of metastatic ER+ tumors. As a result of these new data, we are now working on a clinical trial that combines a MEK inhibitor with fulvestrant, said Ellis, Susan G. Komen scholar and associate director of Precision Medicine at the Dan L Duncan Comprehensive Cancer Center at Baylor. Interestingly, MEK inhibitors are also being used to control peripheral nerve tumors in patients with neurofibromatosis, where a damaged NF1 gene is inherited. Our findings contribute to an understanding of why female neurofibromatosis patients also have a much higher incidence of breast cancer.

Other contributors to this work include Meenakshi Anurag, Jonathan T. Lei, Jin Cao, Purba Singh, Jianheng Peng, Hilda Kennedy, Nhu-Chau Nguyen, Yue Chen, Philip Lavere, Jing Li, Xin-Hui Du, Burcu Cakar, Wei Song, Beom-Jun Kim, Jiejun Shi, Sinem Seker, Doug W. Chan, Guo-Qiang Zhao, Xi Chen, Kimberly C. Banks, Richard B. Lanman, Maryam Nemati Shafaee, Xiang H.-F. Zhang, Suhas Vasaikar, Bing Zhang, Susan G. Hilsenbeck, Wei Li and Charles E. Foulds. The authors are affiliated with one or more of the following institutions: Baylor College of Medicine, Chongqing Medical University, Adrienne Helis Malvin Medical Research Foundation, Zhengzhou University and Guardant Health.

This work appears in Cancer Cell,

See the publication for a complete list of the sources of support for this work.

By Ana Mara Rodrguez, Ph.D.

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Meet a superhero that fights breast cancer, neurofibromin - Baylor College of Medicine News

The BioHealth Capital Region (BHCR) and its life science ecosystem have a rich and deep history of pioneering scientific innovation, research, development, and commercialization. The regions history has been written by life science anchor companies, scientific research universities, government research organizations, rich startup culture, and serial entrepreneurs, all of whom have played critical roles in transforming the BHCR into one of the most innovative and productive biocluster in the world.

Contributions to the BHCRs legacy of life science achievement have emerged from all staffing levels, various labs, countless executive teams, numerous entrepreneurs and biohub support organizations. Contributions have arisen from an intricate tapestry of backgrounds and cultures.

Women, in particular, have had a strong hand in shaping the history of the BHCR. In celebration of Womens History Month, were taking a closer look at the achievements of female life science leaders that have laid the groundwork for the next generation of women trailblazers in the BHCR and made the region what it is today.

Dr. Fraser is one of the most influential figures in BHCR history. In 1995, she was the first to map the complete genetic code of a free-living organism while at the Institute for Genomic Research (TIGR) in Rockville, Maryland. It was there that the automation of the DNA sequencing process made the idea of large-scale sequencing efforts tangible. As President and Director of TIGR, Fraser and her team gained worldwide public notoriety for its involvement in the Human Genome Project, which was completed in 2000 with the presentation of a working draft of the fully sequenced human genome.

As a leader, Fraser provided her researchers with the infrastructure to collaborate and apply multi-disciplinary team science and empowered them to think big. She is also most importantly known for how she challenged her team to ask the right questions, which is the root of scientific progress and success.

Her work at TIGR and as part of the Human Genome Project are foundational events in the regions history, as it marked the BHCR as the epicenter of genomic research and helped spark the regions biotech boom. In fact, it was a controversial partnership with TIGR that gave Human Genome Sciences(HGSi) the first opportunity to utilize any sequences emerging from TIGR labs. The mass of genetic information and sequences, especially that associated with diseases, that HGSi acquired catapulted them into biotech history and an important anchor company within the region.

Dr. Fraser is widely viewed as a pioneer and global leader in genomic medicine; she has published approximately 320 scientific publications and edited three books; she is also one of the most widely cited microbiology experts in the world. She founded the Institute for Genome Sciences at the University of Maryland in 1997. The institute currently holds 25 percent of the funding thats been awarded by the Human Microbiome Project and has been referred to as The Big House in genetics.

Dr. Judy Britz is yet another female life science pioneer that put the BHCR on the map. While working as a research scientist at Electro-Nucleonics Inc., Dr. Britz developed one of the first licensed blood screening tests for HIV, and launching a storied career that has spanned approximately 25 years. She is also a serial entrepreneur that has successfully raised $50M in capital and served as the top executive for two highly successful Maryland-located companies.

Dr. Britz was the first woman to lead the states biotech initiative as the first announced Executive Director of the Maryland Biotech Center. The center was launched under the Maryland Department of Commerce to deploy a strategic life science economic development plan under Governor Martin OMalleys $1.3B, 2020 Vision and to be a one-stop-shop and information center to promote and support biotechnology innovation and entrepreneurship in Maryland.

Judy was the first woman to lead Marylands life sciences initiative, bringing industry experience and perspective to the states economic development activities, a focus still maintained under Governor Hogans leadership today, shared Judy Costello, Managing Director, Economic Development BioHealth Innovation, Inc., who served as Deputy Director under Dr. Britz.

Much of the work done by Dr. Britz and her team laid the foundation and seeded the commercialization efforts that have blossomed into the thriving #4 Biotech Hub that we have today.

GeneDx was founded by Dr. Bale and Dr. John Compton in 2000. The company recently celebrated its 20th anniversary. Since its founding, GeneDx has become a global leader in genomics and patient testing. Under her leadership, the Gaithersburg, Maryland company has played an important role in the history of genetic sequencing and the rise of the BHCR as a global biohealth cluster.

GeneDx was the very first company to commercially offer NGS (Next Generation Sequencing) testing in a CLIA (Clinical Laboratory Improvement Amendments) lab and has been at the leading edge of genetic sequencing and testing for two decades. The companys whole exome sequencing program and comprehensive testing capabilities are world-renowned.

Prior to launching GeneDx, Dr. Bale spent 16 years at NIH, the last nine as Head of the Genetic Studies Section in the Laboratory of Skin Biology. She has been a pioneer during her storied career, publishing over 140 papers, chapters and books in the field. Her 35-year career includes deep experience in clinical, cytogenetic, and molecular genetics research.

Prior to being named CEO and Chair of the Board of Sequella in 1999, Dr. Nacy was the Chief Science Officer and an Executive VP at EntreMed, Inc. EntreMed was one of the most influential BHCR companies in the 1990s. EntreMed, MedImmune, Human Genome Sciences and Celera Genomics all played critical roles in creating the globally recognized, top biocluster that the BHCR has become.

After earning her Ph.D. in biology/microbiology from Catholic University, Nacy did her postdoc work at the Walter Reed Army Institute of Research in the Department of Rickettsial Diseases; her postdoc performance earned a full-time position at Walter Reed that started a 17-year career at the institute. After a highly successful run, Nacy left Walter Reed to join EntreMed.

Today, Dr. Nacy leads Rockville, Marylands Sequella, a clinical-stage pharmaceutical company focused on developing better antibiotics to fight drug-resistant bacterial, fungal and parasitic infections. Sequellas pipeline of small molecule infectious disease treatments have the potential to improve the treatment and outcomes for the over 3 billion people worldwide that are impacted by increasingly drug-resistant infectious diseases.

Emmes Corporation is the largest woman-led organization in the BHCR and is headed by Dr. Lindblad, who started her career at Emmes in 1982 as a biostatistician. She has been with Emmes for nearly 40 years, ascending to become VP in 1992, Executive VP in 2006 and ultimately the companys CEO in late summer of 2013.

Dr. Lindblad has published more than 100 publications and presentations has served as a reviewer of grant and contract applications for the National Institutes of Health (NIH) and has chaired or served on Safety and Data Monitoring Committees across multiple disease areas. Emmes is a life science anchor company for the BHCR, employing more than 600 staff globally with its headquarters in Rockville, Maryland.

Under Kings leadership, GlycoMimetics (GMI), an oncology-focused biotech, went public, secured an exclusive global licensing agreement with Pfizer and was instrumental in raising significant amounts of capital for the company. She was also the first woman Chair of Biotechnology Innovation Associations (BIO, 2013-14), where she still plays an active role on BIOs Executive Committee.

A graduate of Dartmouth College and Harvard Business School, King has had a celebrated career in both biopharma and finance. Prior to becoming CEO of GMI, King served as an Executive in Residence for New Enterprise Associates (NEA), one of the leading venture capital firms in the U.S. She has also held the position of Senior Vice President of Novartis-Corporation. King joined Novartis after a remarkable ten year run with Genetic Therapy, Inc. where she was named CEO after helping Genetic Therapy navigate the organization through various growth stages, including the companys sale to Novartis. King was named the Maryland Tech Councils Executive of the Year in 2013, the Top 10 Women in Biotech by FierceBio and has served on multiple boards across her career.

Dr. Connolly has had a pioneering career in the life sciences. She was the very first woman to graduate from Johns Hopkins Universitys Biomedical Engineering Doctoral Program in 1980. She was also a member of the first female undergraduate class entering Stevens Institute of Technology in 1971.

For decades, Dr. Connolly tirelessly worked to build up what is now known as the BHCR. In 1997, shortly before the region gained wider recognition as a biotech hub, she was the first person to be designated the state of Marylands biotechnology representative. Dr. Connollys career has spanned academia, government, and industry, including co-founding a startup and working as the Business Development Director for EntreMed, Inc., an original BHCR anchor company. She is the former Director of Maryland Industrial Partnerships Program (MIPS) and was inducted into the College of Fellows by the American Institute for Medical and Biological Engineering (AIMBE) in 2013.

Dr. Kirschstein played an enormous role in shaping the BHCR as NIH Deputy Director from 1993 to 1999 during the regions early formative years. She also served as Acting Director of NIH in 1993 and from 2000 to 2002. A pathologist by training, she received her medical degree from Tulane University in 1951 and went on to a long, successful career at the Division of Biologics Standards that lasted from 1957 to 1972.

While at the Division of Biologics Standards, Dr. Kirschstein played an important role in testing the safety of viral vaccines and helped select the Sabin polio vaccine for public use. She eventually ascended to Deputy Director of the group in 1972 and was later appointed the Deputy Associate Commissioner for Science at the FDA. In 1974 she became the Director of the National Institute of Medical Sciences at NIH and served in that role for 19 years.

Her awards and accolades are too numerous to list, but one notable honor came in 2000 when she received the Albert B. Sabin Heroes of Science Award from the Americans for Medical Progress Education Foundation.

Lastly, we want to recognize four additional women for their contributions to launching an organization that has impacted thousands of women by promoting careers, leadership, and entrepreneurship for women in the life sciences Women In Bio.

Women In Bio (WIB), one of the most important and influential support organizations for women in the life sciences, was founded in 2002 to help women entrepreneurs and executives in the Baltimore-Washington-Northern Virginia area build successful bioscience-related businesses. WIB started as a BHCR organization but has expanded its footprint to 13 chapters across the U.S. with 225 volunteer leaders and 2,600 members. The non-profit group has created a forum for female life science entrepreneurs and executives based on its core philosophy of women helping women.

WIB founders are Anne Mathias, a local venture capitalist and current Senior Strategist with Vanguard;

Elizabeth Gray, co-founder of Gabriel Pharma and current Partner at Willkie Farr & Gallagher LLP;

Robbie Melton, former Director of Entrepreneurial Innovation at TEDCO and current Director of Kauai County, Hawaiis Office of Economic Development;

and Cynthia W. Hu, COO, and General Counsel at CASI Pharmaceuticals.

In conclusion, we can not fairly capture the true history of life science and the BioHealth Capital Region without giving special recognition to Henrietta Lacks. In 1951 a Johns Hopkins researcher created the first immortal human cell line from cervical cancer cells taken from Lacks. That cell line, known as HeLa, is the oldest and most commonly used human cell line which was essential in developing the polio vaccine and has been used in scientific landmarks such as cloning, gene mapping and in vitro fertilization.

Though she was a black tobacco farmer from southern Virginia, her impact on science and medicine is unquestionable. She never knew that the Doctor took a piece of her tumor that would be used by scientists who had been trying to grow tissues in culture for decades without success. For some reason, that is still unknown, but her cells never died and the first immortal human cell line was born.

Thank you to all of the women who have been so influential in shaping the field of science, the industry of biotechnology and the BioHealth Capital Region.

Steve has over 20 years experience in copywriting, developing brand messaging and creating marketing strategies across a wide range of industries, including the biopharmaceutical, senior living, commercial real estate, IT and renewable energy sectors, among others. He is currently the Principal/Owner of StoryCore, a Frederick, Maryland-based content creation and execution consultancy focused on telling the unique stories of Maryland organizations.

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Twelve Women Who Have Shaped The History of the BioHealth Capital Region - BioBuzz

California: In a breakthrough study, researchers have found a potential treatment for life-threatening cardiac diseases by using gene therapy.

Danon disease is a very rare, life-threatening condition where the fundamental biological process of removing and recycling proteins does not work.

This impairment results in dysfunction of the heart, skeletal muscle, neurologic system, eyes, and liver. Most patients die or require heart transplants by the third decade of life.

In the study, which was published in Science Translational Medicine, researchers have identified a novel way to treat Danon disease using gene therapy.

Heart transplant is not always available for patients and does not treat the other organs affected in Danon disease. We knew we needed to find therapies specifically designed to address the underlying cause, said the lead researcher Eric Adler.

Danon disease is a result of mutations in the gene LAMP2. For nearly a decade, Adler and a team of researchers at UC San Diego Health have been working to determine whether gene therapy could provide a new treatment approach.

Gene therapy involves either replacing or repairing a gene that causes a medical problem or adding genes to help the body treat disease. In this case, Adler and the team focused on adding a specially designed gene that restores the LAMP2 function, resulting in improved cardiac and liver function.

We utilised mice that were a model for Danon disease and missing this specific LAMP gene. We applied gene therapy to a group of these mice and compared to mice that did not receive treatment, said Adler.

The mice that received gene therapy expressed positive results in heart, liver and muscle function. The hearts overall function of ejecting blood and relaxing improved, as did the bodys ability to degrade proteins and metabolism.

Danon disease is more common in males, and symptoms begin in early childhood or adolescence.

In many cases, the condition is inherited by a parent, typically the mother. We believe Danon disease is actually more common than we think, but it is often misdiagnosed, said Adler.

By utilising gene therapy, we were able to identify a possible new treatment approach other than a heart transplant. This study is a significant step for patients with Danon disease, Adler added.

Prior studies in Adlers lab have focused on using a patients skin cells to create stem cells. These stem cells were used to create a heart model, allowing researchers to study Danon disease at the cellular level.

The approach has provided new insight into the diseases pathology and led to the idea of using gene therapy. Our work is also proof that using stem cells to model diseases has great potential for helping develop new medicines, said Adler.

The next step, said Adler, is testing in patients with Danon disease. A Phase I clinical trial for safety and efficacy has begun.

This is the first trial using gene therapy to treat a genetic cardiac disorder and three patients are currently being treated, which means were that much closer to finding a cure for this terrible disease, and may be able to use similar methods to treat other diseases, said Adler.

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Study reveals gene therapy may help in treating cardiac disease - The Siasat Daily

Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, and Gen, a GMP-certified pharmaceutical company specializing in rare diseases, today announced an exclusive Distribution Agreement for ONPATTRO, a first-in-class RNAi therapeutic for the treatment of hATTR amyloidosis in adults with Stage 1 or Stage 2 polyneuropathy.

"Our partnership with Gen enables us to extend access to ONPATTRO to patients suffering from hereditary ATTR (hATTR) amyloidosis with polyneuropathy in Turkey where we currently dont have a presence," said Brendan Martin, Vice President and Acting Head of Canada, Europe, Middle East and Africa, Alnylam Pharmaceuticals. "There are a significant number of patients in Turkey who urgently need new treatment options and we are delighted to partner with Gen to bring ONPATTRO to those in need."

Abidin Glms, CEO of Gen stated: "We are proud of our reputation as one of Turkey's leading specialty pharmaceutical companies and are excited to have partnered with Alnylam. Through collaborations with leading international companies, we aim to bring innovative medicines to patients in Turkey in the fastest and most reliable way possible."

Patients in Turkey were among those who participated in the randomized, double-blind, placebo-controlled, global Phase 3 APOLLO study, the largest-ever study in hATTR amyloidosis patients with polyneuropathy, which led to the approval of ONPATTRO in the U.S. and EU in 2018.

About ONPATTRO (patisiran)

ONPATTRO is an RNAi therapeutic that was approved in the United States and Canada for the treatment of the polyneuropathy of hATTR amyloidosis in adults. ONPATTRO is also approved in the European Union, Switzerland and Brazil for the treatment of hATTR amyloidosis in adults with Stage 1 or Stage 2 polyneuropathy, and in Japan for the treatment of hATTR amyloidosis with polyneuropathy. Based on Nobel Prize-winning science, ONPATTRO is an intravenously administered RNAi therapeutic targeting transthyretin (TTR). It is designed to target and silence TTR messenger RNA, thereby blocking the production of TTR protein before it is made. ONPATTRO blocks the production of TTR in the liver, reducing its accumulation in the bodys tissues in order to halt or slow down the progression of the polyneuropathy associated with the disease. For more information about ONPATTRO, visit ONPATTRO.com.

Important Safety Information (ISI) for ONPATTRO

Infusion-Related Reactions

Infusion-related reactions (IRRs) have been observed in patients treated with patisiran. In a controlled clinical study, 19% of patisiran-treated patients experienced IRRs, compared to 9% of placebo-treated patients. The most common symptoms of IRRs with patisiran were flushing, back pain, nausea, abdominal pain, dyspnoea, and headache. Hypotension, which may include syncope, has also been reported as a symptom of IRRs.

To reduce the risk of IRRs, patients should receive premedication with a corticosteroid, paracetamol, and antihistamines (H1 and H2 blockers) at least 60 minutes prior to patisiran infusion. Monitor patients during the infusion for signs and symptoms of IRRs. If an IRR occurs, consider slowing or interrupting the infusion and instituting medical management as clinically indicated. If the infusion is interrupted, consider resuming at a slower infusion rate only if symptoms have resolved. In the case of a serious or life-threatening IRR, the infusion should be discontinued and not resumed.

Reduced Serum Vitamin A Levels and Recommended Supplementation

Patisiran treatment leads to a decrease in serum vitamin A levels. Patients receiving patisiran should take oral supplementation of approximately 2500 IU vitamin A per day to reduce the potential risk of ocular toxicity due to vitamin A deficiency. Doses higher than 2500 IU vitamin A per day should not be given to try to achieve normal serum vitamin A levels during treatment with patisiran, as serum levels do not reflect the total vitamin A in the body. Patients should be referred to an ophthalmologist if they develop ocular symptoms suggestive of vitamin A deficiency (e.g. including reduced night vision or night blindness, persistent dry eyes, eye inflammation, corneal inflammation or ulceration, corneal thickening or corneal perforation).

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Adverse Reactions

The most common adverse reactions that occurred in patients treated with patisiran were peripheral oedema (30%) and infusion-related reactions (19%).

About RNAi

RNAi (RNA interference) is a natural cellular process of gene silencing that represents one of the most promising and rapidly advancing frontiers in biology and drug development today. Its discovery has been heralded as "a major scientific breakthrough that happens once every decade or so," and was recognized with the award of the 2006 Nobel Prize for Physiology or Medicine. By harnessing the natural biological process of RNAi occurring in our cells, a new class of medicines, known as RNAi therapeutics, is now a reality. Small interfering RNA (siRNA), the molecules that mediate RNAi and comprise Alnylams RNAi therapeutic platform, function upstream of todays medicines by potently silencing messenger RNA (mRNA) the genetic precursors that encode for disease-causing proteins, thus preventing them from being made. This is a revolutionary approach with the potential to transform the care of patients with genetic and other diseases.

About Alnylam

Alnylam (Nasdaq: ALNY) is leading the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare genetic, cardio-metabolic, hepatic infectious, and central nervous system (CNS)/ocular diseases. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach for the treatment of a wide range of severe and debilitating diseases. Founded in 2002, Alnylam is delivering on a bold vision to turn scientific possibility into reality, with a robust RNAi therapeutics platform. Alnylams commercial RNAi therapeutic products are ONPATTRO (patisiran), approved in the U.S., EU, Canada, Japan, Brazil and Switzerland, and GIVLAARI (givosiran), approved in the U.S and the EU. Alnylam has a deep pipeline of investigational medicines, including five product candidates that are in late-stage development. Alnylam is executing on its "Alnylam 2020" strategy of building a multi-product, commercial-stage biopharmaceutical company with a sustainable pipeline of RNAi-based medicines to address the needs of patients who have limited or inadequate treatment options. Alnylam is headquartered in Cambridge, MA.

About Gen

Gen is the fastest growing pharmaceutical company in Turkey. Teamed up with its leading international partners and compliant with ethical and scientific principles, Gen supplies products used in treatment of rare diseases and disorders in different branches and aims to bring these products to patients in the easiest, fastest and most reliable way possible while striving to find and bring new treatments to patients with unmet medical needs. With its GMP certificated production facility based in Ankara, Gen exports its products to different countries and has offices in Ankara (HQ), stanbul, zmir, Trabzon, Azerbaijan, Kazakhstan and Russia with 400+ employees. For more information please visit the Gen website.

Alnylam Forward Looking Statements

Various statements in this release concerning future expectations, plans and prospects, including, without limitation, Alnylam's views and plans with respect to the ability to extend patient access to ONPATTRO in Turkey through the announced Distribution Agreement with Gen, and the number of patients in Turkey within the approved indication for ONPATTRO who are in need of new treatment options, Gens views and plans with respect to the speed and reliability with which it is able to bring innovative medicines to patients in Turkey, and Alnylams expectations regarding the continued execution on its "Alnylam 2020" guidance for the advancement and commercialization of RNAi therapeutics, constitute forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995. Actual results and future plans may differ materially from those indicated by these forward-looking statements as a result of various important risks, uncertainties and other factors, including, without limitation: Alnylam's ability to discover and develop novel drug candidates; the pre-clinical and clinical results for its product candidates, which may not be replicated or continue to occur in other subjects or in additional studies or otherwise support further development of product candidates for a specified indication or at all; actions or advice of regulatory agencies, which may affect the design, initiation, timing, continuation and/or progress of clinical trials or result in the need for additional pre-clinical and/or clinical testing; delays, interruptions or failures in the manufacture and supply of its product candidates or its marketed products, including ONPATTRO in Turkey; obtaining, maintaining and protecting intellectual property; intellectual property matters including potential patent litigation relating to its platform, products or product candidates; obtaining regulatory approval for its product candidates, including lumasiran and product candidates developed in collaboration with others, including inclisiran, and maintaining regulatory approval and obtaining pricing, reimbursement and access for its products, including ONPATTRO and GIVLAARI; progress in continuing to establish a commercial and ex-United States infrastructure, including in Europe; successfully launching, marketing and selling its approved products globally, including ONPATTRO and GIVLAARI, and achieve net product revenues for ONPATTRO within its expected range during 2020; potential risks to Alnylams business, activities and prospects as a result of the COVID-19 pandemic, or delays or interruptions resulting therefrom, including without limitation, any risks affecting access to ONPATTRO in Turkey, Alnylams ability to successfully expand the indication for ONPATTRO in the future; competition from others using technology similar to Alnylam's and others developing products for similar uses; Alnylam's ability to manage its growth and operating expenses within the ranges of its expected guidance and achieve a self-sustainable financial profile in the future, obtain additional funding to support its business activities, and establish and maintain strategic business alliances and new business initiatives; Alnylam's dependence on third parties, including Regeneron, for development, manufacture and distribution of certain products, including eye and CNS products, and Ironwood, for assistance with the education about and promotion of GIVLAARI in the U.S.; the outcome of litigation; the risk of government investigations; and unexpected expenditures, as well as those risks more fully discussed in the "Risk Factors" filed with Alnylam's most recent Annual Report on Form 10-K filed with the Securities and Exchange Commission (SEC) and in other filings that Alnylam makes with the SEC. In addition, any forward-looking statements represent Alnylam's views only as of today and should not be relied upon as representing its views as of any subsequent date. Alnylam explicitly disclaims any obligation, except to the extent required by law, to update any forward-looking statements.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200325005133/en/

Contacts

Alnylam Pharmaceuticals, Inc. Christine Regan Lindenboom(Investors and Media)+1-617-682-4340

Fiona McMillan(Media, Europe)+44 1628 244960

Gen Ayhan Yener, MD(Medical Director)+90 554 566 57 40

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Alnylam Pharmaceuticals and Gen Sign Distribution Agreement in Turkey for ONPATTRO (patisiran), the First-in-Class Gene-Silencing RNAi Therapeutic -...

This scanning electron microscope image shows SARS-CoV-2, the virus that causes Covid-19, (round blue objects) emerging from the surface of cells cultured in the lab. SARS-CoV-2, also known as 2019-nCoV, is the virus that causes Covid-19. The virus shown was isolated from a patient in the U.S. Image by the US NIAID (CC BY 2.0)

First published by GroundUp

Are you wondering why you have to wait a few days for the results of the Covid-19 test? One reason is that laboratory technicians must take pains to avoid getting it wrong what are called false negatives, and less often, false positives.

The other reason is that the techniques they use are done in a specialised laboratory, working with very small, precise quantities of what are known as reagents.

The first step is to take a swab from you as shown in this video from the New England Journal of Medicine (the worlds leading medical journal):

It may be a little uncomfortable, but grin and bear it; its for your own good.

You could also provide a sputum sample from your lower respiratory tract if you have a cough. A health worker will decide based on your symptoms, and the guidelines issued by the National Institute of Communicable Diseases (NICD), which route to take.

Looking for the virus

Lab technicians need the swab to check if you have the virus. They do this using a diagnostic test called a real-time reverse-transcription polymerase chain reaction (rRT-PCR) test. To do a PCR diagnostic test, a laboratory technician isolates the genetic material of the virus from the sample you have provided. The PCR technique is well-developed and there is plenty of information about it online.

A virus is a small infectious agent that multiplies in living cells. Viruses contain nucleic acids, which are the building blocks of living organisms. DNA and RNA are the primary nucleic acids. Some viruses may contain single-stranded nucleic acids, others may contain double-stranded nucleic acids. A genome is the complete set of hereditary material in an organism. Some viruses have RNA genomes, while other viruses have DNA genomes. The genomes of some RNA viruses can be translated directly into viral proteins and they serve as a template for genome replication. They are described as positive-sense.

The coronavirus that emerged in late 2019 has a single-strand, positive-sense RNA genome.

PCR is a molecular biology tool that is used to amplify a gene segment from a very small sample of DNA. Many millions of copies are produced, which allows the gene sequence of interest to be studied further.

The first step involves transforming the RNA into DNA using an enzyme called reverse transcriptase. A small amount of DNA is amplified into larger quantities which will be more easily detected. In a standard PCR, the lab technician can only find out the result of the test once it is complete. In a real-time PCR, a camera or detector can watch as the reaction takes place and give real-time feedback on how the test is going.

The waiting period the time you have to wait to get your results may be due to a number of factors all of which contribute to the reliability of your test result. The crucial one is to reduce the risk of getting a false negative (when the PCR test says you dont have the infection, but in fact you do).

According to the NICD, a false negative could occur when the specimen:

Technical reasons inherent in the test, for example virus mutation, may also lead to a false result.

False positives occur less often and may be the result of the slightest of contaminations in the testing process, among other factors.

The World Health Organisation, the Centers for Disease Control and Prevention, and the NICD provide guidance for laboratory testing on their websites. But the Covid-19 virus is new, so testing protocols are being formulated and refined as new knowledge emerges.

Other tests needed

At present, PCR tests can only be done in specialised laboratories. Even putting aside the time it takes to get the sample from the patient to the lab, the fastest available process takes at least four hours to get a result. This time includes the sample preparation and the actual analysis.

The backlog that is building up because of the increased demand for tests could mean the process will, in the short term, probably become slower rather than faster.

Other, quicker, types of tests are needed.

The US Food and Drug Administration (FDA) has in the past few days approved a test developed by molecular diagnostics company Cepheid. It produces a machine called the Gene Xpert, the size of a desktop computer, which can be used in health facilities to do PCR tests for the new coronavirus.

But at this stage it is unclear how well the Cepheid test works, how quickly the company can produce the reagents needed for it, what these will cost and how quickly it can be rolled out across the world.

To permit the use of this test, the FDA, on 29 February, posted new rules allowing emergency use authorisations of coronavirus tests other than the ones made and distributed by the US Centers for Disease Control and Prevention.

The RT-PCR test is recommended by the World Health Organisation.

Another possible way for testing would be that recommended by David Ho, a viral epidemic expert, who suggested antibody testing in his interview with Caltech.

To fight viruses, your body will begin producing antibodies. An antibody is a protective protein produced by your immune system to help it fight this foreign substance. These are usually cheaper and quicker than PCR tests, and can be done at a clinic quickly, with a patient able to get his result before going home.

Reports are emerging of promising antibody tests, but at the time of publication none had been approved. Things are changing quickly, however. For example, on 18 March 2020, researchers posted a preprint on the Medriv website of a serology test which would identify the antibodies within three days of the onset of symptoms. A serology test is a blood test that looks for antibodies in your blood.

The researchers were clear that this was not a clinical trial, but the first development towards such a test.

On March 22, the WHO published its interim guidance for Laboratory testing strategy recommendations for Covid-19. It stipulated that serological assays will play an important role in research and surveillance, but are not recommended for case detection at present.

The role of rapid disposable tests for antigen detection for Covid-19 needs to be evaluated and is not currently recommended for clinical diagnosis pending more evidence on test performance and operational utility.

Behind the scenes

There is a lot more going on behind the scenes in the testing lab than most people realise. Entire teams are working to ensure your results are reliable.

The process, by its very nature, is painstaking and methodical.

But the good news is that throughout the world, scientists are working together, sharing knowledge that is being accrued by the day. Theyre making tests that are quicker, and more reliable.

For informed information on how to proceed for testing, contact the National Institute for Communicable Diseases on its 24-hour toll-free number: 0800 029 999. DM

Fatima Khan has a background in laboratory research and education. She is currently enrolled on Roving Reporters environmental journalism training project. Additional reporting by GroundUp.

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Covid-19: Why testing takes time and what to expect - Daily Maverick

We debate the ethics of reviving extinct species like the passenger pigeon orwoolly mammoth, with scientists clamoring to make some poor, hairy proboscidean clone baby take its first awkward steps out onto the ice. Yet somehow, the idea of resurrecting long-lost plants never really caught on in the public imagination.

Maybe thats because most people probably couldnt even name an extinct plant, let alone one theyd want to smell, see, or study, though Rachel Meyer, an assistant professor of ecology and evolutionary biology at the University of California, Santa Cruz, has a hard time picking just one.

Theres a broad, storied slate of lost plant species and varieties that have been sort of forgotten that maybe we want again, she said, and its looking increasingly likely that we could bring these things back.

While trying to sprout old seeds may not be a great bet, [Dorian Fuller, a professor of archaeobotany at University College, London], sees possibilities in combining gene-editing technology like CRISPR and advances in recovering DNA from historical specimens. Theoretically, he said, You could take genetic material out of an ancient plant and insert it into a modern seed.

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Gene editing might help restore extinct plants used as food, medicine and perfume thousands of years ago - Genetic Literacy Project

Humans havearound400olfactorysmell-sensing genes the largest gene familyin humansthat are turnedon in the noseand other parts of the body, allowing us to smell at least one trillion different odours.Up until now, the role of theseolfactorygenes outside the nose has been largely unknown.

A recent study, published in Molecular Systems Biology, usedmultiple layers of artificial intelligence (AI) toidentifythesegenes involved inthe organisation ofcolon cancer cells. Thisrevealed thatsmell-sensinggenescancontribute to this cancer-associated processalong with keycoloncancer genesandhighlighted their potential role indisease spread andprognosis.

The discoverywas enabled by thedevelopmentof an innovativeAI system, calledKnowledge-and Context-driven Machine Learning (KCML)that enables researchers to studymicroscopy imagesin greater detail to understand more about the function of genes in specific context. KCML has first been applied to colon cancerbut is widely applicable in other diseases too.

The researchers usedcomputer vision algorithm to detect changes in cell appearance and organisation. The algorithm was fed information from robotic microscopy, in collaboration with researchers from the University of Zurich, to image millions of colon cancer cells.By reducing the expression of the smelling genes within these cells, they were able to understand more about the role they play in carcinogenesis.

Expression is whengenes are activated to produce certain proteinsand molecules. Researchers in this study found that reducing the expression of smell-sensing genes in colon cancer cells, a process known as perturbation,can inhibit cells from spreading, potentially by restraining the ability of cells to move. The same behaviour is also observed in the perturbation of key cancer genes.

Dr Heba Sailem,Sir Henry Wellcome Research Fellow at theInstitute of Biomedical Engineering in the UK, alead author on the study,explained: With all this big imaging data, we have a powerfulmeans tobetter understand how every single gene contributes to cancer cell behaviour. I have developed an AI system that is guided by prior knowledge of gene function that allows us to learn much more from this data than would be possible using existing methods.

When humans look atcomplex scenes, theyinterpret the images in light of their previous experience and visual memories (prior knowledge). However, computersjust seeimages asalargematrix of numbers, they will not see shapes and structures.Computer vision is about training the computer to see whatthe human can see. Through AI, we are able to identifyhow turning genes off affectsthe characteristics, shape and structureof cells and tissue. Usually, it is a very lengthy process for humans to interpret numbers from thousands of images, each with thousands of cells.Computer vision can achieve that in a few days,she added.

Dr Sailemswork has focussed on studying cells in culture, and the next step will beto link these findingsthroughto real patient data. She is also keen to apply her AI modelto study the behaviour of genes indifferent cancers, including prostrate, breast and lung.

WHY IT MATTERS

Colorectal cancer is the third most common cancer in the UK and the second most common cause of cancer deaths.

Professor Mark Lawler, chair in translational cancer genomics, Centre for Cancer Research and Cell Biology, Queens University Belfast and Bowel Cancer UK medical advisor,welcomed the application of the new AI model in colorectal cancer, commenting the study showed the power of data in revealing new mechanisms.

One of the biggest challenges in colorectal cancer is metastasis. This is the point at which most patients die. Something that tells us more about that and maybe indicates how this could be controlled is verypromising, he added.

Dr Sailem explained:Cancer is not one disease - itcan be classified intomany diseases depending ontissue type and origin. Wecan takecellsfrom diseased tissueand look at what the genes in theseparticular cellsare doing. We can then identify genes to target for therapy or genesfor which targeted therapies already exist.

THE LARGER TREND

AIand machine learningis increasingly being used to acceleratethe development oftargeted therapies in cancer and other diseases, with leading technology and pharmaceuticalcompanies forming high profile partnerships in recent months.

One such collaboration between Novartis and Microsoft was announced in October to transform medicine with AI. Vas Narasimhan, CEO of Novartis, said, As Novartis continues evolving into a focused medicines company powered by advanced therapy platforms and data science, alliances like this will help us deliver on our purpose to reimagine medicine to improve and extend lives. Pairing our deep knowledge of human biology and medicine with Microsofts leading expertise in AI could transform the way we discover and develop medicines for the world.

ON THE RECORD

Professor Tim Maughan,professor of clinical oncology at the University of Oxford and advisor to Bowel Cancer UK,saidDr Sailemsstudy linked to his own research into howcellswithin tumourstalkto each other.

He said: What they say to each other is determined by molecular make up but also by the conversation going on between the cells. The shape that the cellshave, theway that theyareorganised, the distance they are apart, how close the immune cells get into the cancer,is all a result of the conversation going on between the different cell types within a cancer

DrSailemin this study has found that inadditiontoidentifyingwhole new genes which are important in bowel cancer, she has also picked up that genes that are part of thatolfactorysmell system play a part of this conversation.

Commentingon the research, Professor Lawler said:It is saying something about why there areolfactorygenes in other parts of the body and how they might be responding to the microbiome in the gut. It will be interesting to see what stimulates these genes to upregulate or down regulate in their environment. From there we may be able to identify important biomarkers.

He added: Big data for better health makes sense. You can use that data to change lives, diagnose patients earlier, develop better treatment and improve their quality of life and above all, data can really save lives.

For more information on bowel cancer go to http://www.bowelcanceruk.org.uk.

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A new AI system has enabled the discovery of a novel role for 'smell-sensing' genes in colon cancer - Healthcare IT News

SAN FRANCISCO, March 23, 2020 /PRNewswire/ --Invitae (NYSE: NVTA), a leading medical genetics company today announced its partnership with the Muscular Dystrophy Association (MDA) to offer sponsored, no-charge genetic testing to patients through the Detect Muscular Dystrophy program in MDA's care center network, a network of clinics at more than 150 of the nation's top healthcare institutions.

Research has shown no-charge testing programs help increase utilization of genetic testing, which can shorten the time to diagnosis by as much astwo years in some conditions. Accurate diagnoses enable clinicians to focus on providing disease-specific care sooner, helping reduce costs and improve outcomes.

"Muscular dystrophy consists of many disorders with overlapping symptoms that often make diagnosis more challenging. Genetic testing can help accelerate diagnosis and treatment of conditions such as Duchenne Muscular Dystrophy or Becker Muscular Dystrophy which enables clinicians to begin identifying treatment options sooner," said Lynn O'Connor Vos, President and CEO of Muscular Dystrophy Association. "By bringing this program to our care centers, we can make it easier for patients to get tested, moving them one step closer to the care they need."

Muscular dystrophy refers to a group of disorders characterized by progressive muscle weakness and loss of muscle tissue. Muscular dystrophies affect 1 out of every 4,000 to 5,000 people with varying severity and presentation, often affecting skeletal muscle and ambulation, and in some forms involving cardiac, respiratory, swallowing muscles or other organs and tissues. Genetic testing has been proven to shorten the time to diagnosis and prevent misdiagnosis. Accurate and early identification of affected individuals allows for improved clinical outcomes.

In addition to genetic testing, the Detect Muscular Dystrophy program offers post-test genetic counseling to help patients understand test results and make more informed decisions about their health and follow-up care. Detect Muscular Dystrophy also offers genetic testing to family members of patients with genetic variants associated with disease to better understand their own disease risks.

"Genetic testing can expedite making an accurate diagnosis, facilitate earlier interventions, allow genetic counseling of family members, and support clinical research into muscular dystrophies, including Duchenne and Becker muscular dystrophies, and also many other forms of muscular dystrophy," said Robert Nussbaum, M.D., chief medical officer of Invitae. "We're proud to work with MDA to increase access to early genetic testing among patients suspected of having muscular dystrophy. Their network of care centers offers patients expert care and easier access to genetic testing to inform that care."

Additional details, terms and conditions of the programs can be found at Detect Muscular Dystrophy (www.invitae.com/DetectMD). For more information on partnering with Invitae, visit http://www.invitae.com/biopharma.

Invitae sponsored testing programs are designed to increase access to genetic testing, particularly in conditions where earlier testing can improve diagnosis and treatment yet testing remains underutilized. Patients enroll in Invitae's sponsored testing programs through their clinician. Learn more atwww.invitae.com/sponsored-testing.

About Muscular Dystrophy Association Since 1950, the Muscular Dystrophy Association (MDA) has been committed to transforming the lives of people affected by muscular dystrophy, ALS and related neuromuscular diseases. We do this through innovations in science and innovations in care. As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to life-changing therapies across multiple neuromuscular diseases. MDA's Neuromuscular ObserVational Research (MOVR) data hub gathers longitudinal clinical data for multiple neuromuscular diseases to improve health outcomes and accelerate therapy development. MDA supports the largest network of multidisciplinary clinics providing best in class care at more than 150 of the nation's top medical institutions, and our national resource center serves the community with one-on-one specialized support and we offer educational conferences, events, and materials for families and healthcare providers. Each year thousands of children and young adults learn vital life skills and gain independence at summer camp and through recreational programs, at no cost to families. For more information visit mda.org.

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of genetic testing and information; and the design and benefits of the company's sponsored testing and Detect programs. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Annual Report on Form 10-K for the year ended December 31, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://invitae.com

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Invitae and Muscular Dystrophy Association (MDA) Expand Access to No-Charge Genetic Testing in the US and Canada - PRNewswire

CRANBURY, N.J., March 23, 2020 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel medicines for rare diseases, today announced that the Company has proactively taken numerous measures in response to the novel coronavirus (COVID-19) pandemic to support the rare disease community globally and to ensure the achievement of its 2020 key strategic priorities. In support of its patients, people, and programs, a COVID-19 internal Amicus task force chaired by Chairman & CEO John F. Crowley was established in early March and meets regularly via video conference to assess COVID-19 developments and their impacts on company plans and strategies.

Our Patients. Amicus is committed to providing uninterrupted access to medicines for those who are in need of a treatment.

Our People. Amicus is aligned with public health strategies designed to prevent the spread of COVID-19 in order to protect our global workforce.

Our Programs. Amicus remains dedicated to delivering high-quality medicines for people living with rare diseases. Toward that end, Amicus has instituted a business continuity plan that it believes ensures the business will continue to perform and deliver on its mission for patients and shareholders. Based on current information, the Company continues to believe it will achieve its 2020 key strategic priorities, including:

As a leader in the global rare-disease community, our top priority remains our patients, communities and employees. We will continue to monitor the overall situation closely as it applies to all our partners and share updates appropriately.

About Galafold Galafold (migalastat) 123 mg capsules is an oral pharmacological chaperone of alpha-Galactosidase A (alpha-Gal A) for the treatment of Fabry disease in adults who have amenable GLA variants. In these patients, Galafold works by stabilizing the bodys own dysfunctional enzyme so that it can clear the accumulation of disease substrate. Globally, Amicus Therapeutics estimates that approximately 35 to 50 percent of Fabry patients may have amenable GLA variants, though amenability rates within this range vary by geography. Galafold is approved in over 40 countries around the world, including the U.S., EU, U.K, Japan and others.

U.S. Indications and UsageGalafold is indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene (GLA) variant based on in vitro assay data.

This indication is approved under accelerated approval based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials.

U.S. Important Safety InformationAdverse ReactionsThe most common adverse reactions reported with Galafold (10%) were headache, nasopharyngitis, urinary tract infection, nausea and pyrexia.

Use in Specific PopulationsThere is insufficient clinical data on Galafold use in pregnant women to inform a drug-associated risk for major birth defects and miscarriage. Advise women of the potential risk to a fetus.

It is not known if Galafold is present in human milk. Therefore, the developmental and health benefits of breastfeeding should be considered along with the mothers clinical need for Galafold and any potential adverse effects on the breastfed child from Galafold or from the underlying maternal condition.

Galafold is not recommended for use in patients with severe renal impairment or end-stage renal disease requiring dialysis.

The safety and effectiveness of Galafold have not been established in pediatric patients.

To report Suspected Adverse Reactions, contact Amicus Therapeutics at 1-877-4AMICUS or FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

For additional information about Galafold, including the full U.S. Prescribing Information, please visit https://www.amicusrx.com/pi/galafold.pdf.

E.U. and U.K. Important Safety InformationTreatment with Galafold should be initiated and supervised by specialists experienced in the diagnosis and treatment of Fabry disease. Galafold is not recommended for use in patients with a nonamenable mutation.

For further important safety information for Galafold, including posology and method of administration, special warnings, drug interactions and adverse drug reactions, please see the European SmPC for Galafold available from the EMA website at http://www.ema.europa.eu.

About Amicus Therapeutics Amicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases. For more information please visit the companys website at http://www.amicusrx.com, and follow on Twitter and LinkedIn.

Forward-Looking StatementsThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 relating to preclinical and clinical development of our product candidates, the timing and reporting of results from preclinical studies and clinical trials, the prospects and timing of the potential regulatory approval of our product candidates, commercialization plans, manufacturing and supply plans, financing plans and the projected revenues and cash position for the Company. The inclusion of forward-looking statements should not be regarded as a representation by us that any of our plans will be achieved. Any or all of the forward-looking statements in this press release may turn out to be wrong and can be affected by inaccurate assumptions we might make or by known or unknown risks and uncertainties. For example, statements regarding corporate goals and the attainment of such goals, including as they are impacted by Covid-19 related disruption, are based on current information. The potential impact on operations from the Covid-19 outbreak is inherently unknown and cannot be predicted with confidence and may cause actual results and performance to differ materially from the statements in this release, including without limitation, because of the impact on general political and economic conditions, including as a result of efforts by governmental authorities to mitigate Covid-19, such as travel bans, shelter in place orders and third-party business closures and resource allocations, manufacturing and supply chain disruptions, limitations on patient access to commercial product or clinical trial sites and investigational product or other clinical study disruptions. With respect to statements regarding projections of the Company's financial outlook, actual results may differ based on Covid-19 related disruptions and other market factors, including the factors above, and the Company's ability to execute its business continuity, operational and budget plans. In addition, all forward-looking statements are subject to other risks detailed in our Annual Report on Form 10-K for the year ended December 31, 2019. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. All forward-looking statements are qualified in their entirety by this cautionary statement, and we undertake no obligation to revise or update this news release to reflect events or circumstances after the date hereof

CONTACT:

Andrew FaughnanDirector, Investor Relationsafaughnan@amicusrx.com(609) 662-3809

FOLD-G

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Amicus Therapeutics Confirms Business Continuity, 2020 Strategic Priorities and Announces Proactive Efforts to Support Public Health Initiatives,...

BEIJING--(BUSINESS WIRE)--The Beijing Expert Consensus Statement on the Standardized Application of Next-Generation Sequencing Technology in Clinical Tests - Tumor (1st Edition) has been officially published in Chinese Medical Journal. The drafting of this statement was led by Beijing Center for Clinical Laboratory, Beijing Society of Laboratory Medicine, Capital Medical University-Clinical Laboratory Diagnostics Department, and Beijing Quality Control and Improvement Center for Medical Laboratory Tests. It represents the first authoritative consensus on the standardized application of next-generation sequencing (NGS) technology in oncological clinical practice within China. It consequently serves as a base for standardized operation and management of NGS clinical laboratories. Genetron Holdings Limited (Genetron Health) has been highly recognized by the drafting agencies, and ranks first place in the acknowledgements for its outstanding contribution.

NGS testing enables detection of somatic mutation in solid tumors; this statement elaborates on its intended clinical use, testing method establishment and optimization, LDTs analytical validation, and key pre-, in- and post-analysis quality assurance steps. Such testing is currently used to provide guidance for tumor targeted medicine and monitoring, as well as to evaluate immunotherapy efficacy. With the emergence of biomarkers, new NGS technology continues to be introduced to clinical testing, and the uses of technology are expected to expand further. The consensus statement will be amended accordingly to adapt to the guidelines for NGS-based tumor gene mutation detection in clinical practice.

Genetron Health is committed to providing quality products and services. The company actively work with institutions, experts and peers to promote the regularized and standardized application of NGS technology, and promote the development of precision medicine to benefit more patients.

About Genetron Health

Genetron Health is a leading and fast-growing precision oncology company in China that aims to provide one-stop genomic profiling solutions for multiple scenarios covering early screening, diagnosis and monitoring, and biopharmaceutical services. The company collaborates with over 400 hospitals and dozens of biopharmaceutical companies and research institutions and has developed a large proprietary genomic database.

Genetron Health has established R&D centers in both the United States and China, two manufacturing facilities with both ISO 13485:2016 certification and ISO 9001:2015 certification in China and five clinical laboratories in Beijing (CLIA accreditation and CAP certification), Shanghai, Hangzhou, Chongqing and Guangzhou. The R&D capacities of Genetron Health are supported by a best-in-class research and development team led by scientists at the forefront of cancer genomics research. The company has published many research papers in highly influential worldwide peer-reviewed scientific journals, such as Nature Genetics, Nature Communications, Cell Research and PNAS.

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Genetron Health Contributes to China's First Expert Consensus Statement on the Standardized Clinical Application of NGS Testing for Oncology -...