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17 March 2023
Gene Therapy

Gene therapy is the introduction or removal of genetic material or modification of gene expression to alter the biological function of an individual’s genetic code with the objective of achieving a therapeutic benefit. Gene therapies can be delivered either by transporting the gene directly into the body (in vivo)17 or by modifying cells and returning them into the body (ex vivo).18,19 Gene therapy approaches include ‘knocking out’ or inactivating, a mutated gene that is functioning improperly; introducing new genes into the cells or replacing a mutated gene that causes disease with a healthy gene. Gene replacement therapy utilizes a delivery vehicle, a viral vector carrying the transgene to supply the healthy gene to the cell. This allows for restoration of function of the defected gene and production of the protein of interest.

Gene Editing

Gene editing is a process of making precise alterations to an organism's DNA, which can be used to add, remove or alter genes at specific sites in the genome. While techniques to modify DNA have existed for several decades, new methods have made genome editing faster, cheaper and more efficient.

References

  1. American Society of Gene and Cell Therapy. Gene and cell therapy FAQs, 2018. Available at: https://www.asgct.org/education/gene-and-cell-therapy-faqs. [Accessed March 25, 2023].
  2. American Society of Gene & Cell Therapy. Gene and cell therapy FAQs, 2018. Available at: https://www.asgct.org/education/more-resources/gene-and-cell-therapy-faqs. [Accessed March 25, 2023].
  3. IBID.
  4. Keeler AM, ElMallah MK, Flotte TR. Gene therapy 2017: progress and future directions. Clin Transl Sci. 2017:10(4):242-248.
  5. Sung, Y., Kim, S. Recent advances in the development of gene delivery systems. Biomater Res 23, 8 (2019). https://doi.org/10.1186/s40824-019-0156-z.
  6. Bulcha, J.T., Wang, Y., Ma, H. et al. Viral vector platforms within the gene therapy landscape. Sig Transduct Target Ther 6, 53 (2021). https://doi.org/10.1038/s41392-021-00487-6.
  7. American Society of Gene and Cell Therapy. Gene and cell therapy FAQs. 2018. Available at: https://www.asgct.org/education/gene-and-cell-therapy-faqs. [Accessed: March 25, 2023].
Inherited Metabolic Disorders

Inherited metabolic disorders (also known as inborn errors of metabolism) are a group of genetic conditions that affect the body’s metabolism, the process by which our body converts food into energy and essential molecules for growth and development. These disorders limit or prevent the body's ability to process specific nutrients or molecules, resulting in an abnormal accumulation or deficiency of metabolic products. These disorders are caused by inherited mutations in genes that encode enzymes, transporters or other proteins that are critical for metabolic pathways. Inherited metabolic disorders can affect any organ or tissue in the body and have a broad range of clinical symptoms, including developmental delay, intellectual disability, seizures, metabolic crises and organ disfunction or failure. Some inherited metabolic disorders can be managed with dietary changes, enzyme replacement therapy or other targeted therapies, depending on the specific metabolic defect. Others have no cure and can be life-threatening. There are hundreds of known inborn errors of metabolism. Some examples include phenylketonuria (PKU), maple syrup urine disease (MSUD), lysosomal storage disorders (LSDs) and glycogen storage diseases (GSDs).23

References

  1. Ferreira CR, Rahman S, Keller M, Zschocke J; ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021 Jan;44(1):164-177. doi: 10.1002/- jmd.12348. PMID: 33340416; PMCID: PMC9021760.

The Relief Therapeutics Scientific Advisory Board (SAB) was formed to support the Company’s genetic medicines initiative. The SAB serves as an integral resource, providing scientific review and high-level technical and strategic guidance related to gene therapy targets, research and pre-clinical development and strategic research alliances. Additional appointments to the SAB are forthcoming.

Guangping Gao, Ph.D., Scientific Advisory Board Chair

Guangping Gao, Ph.D. is co-director of the Li Weibo Institute for Rare Diseases Research, director of the Horae Gene Therapy Center and Viral Vector Core, professor of microbiology and physiological systems, and Penelope Booth Rockwell Chair in biomedical research at the University of Massachusetts Chan Medical School in Worcester, Mass. Dr. Gao is an elected fellow, both at the U.S. National Academy of Inventors (NAI) and American Academy of Microbiology.
For more than 30 years, Dr. Gao has primarily focused on molecular genetics and viral vector gene therapy of rare genetic diseases, encompassing disease gene cloning, causative mutation identification, pathomechanism investigation, animal modeling, novel viral vector discovery and engineering for in vivo gene delivery, vector biology, pre-clinical and clinical gene therapy product development, viral vector manufacturing for pre-clinical and clinical gene therapy applications as well as technology platform development as novel approaches for human gene therapy.

Dr. Gao has published nearly 350 research papers, six book chapters and five edited books. He holds 233 patents with 480 more patent applications pending. Dr. Gao serves as the executive editor-in-chief of Human Gene Therapy, senior editor of the Gene and Cell Therapy book series, associate editor of Signal Transduction and Targeted Therapy and serves on the editorial boards of several other gene therapy and virology journals.
Nature Biotechnology has ranked Dr. Gao as one of the top 20 translational researchers in the world for several years in a row. From 2017 to 2020, he served as vice president, president-elect and president of the American Society of Gene and Cell Therapy.

Dr. Gao is a co-founder of Voyager Therapeutics, Adrenas Therapeutics and Aspa Therapeutics, which are focused on developing recombinant adeno-associated virus (rAAV) gene therapeutics for treating a variety of devastating rare diseases.

Dr. Gao earned a bachelor of medicine degree from West China School of Medicine, Sichuan University in Chengdu, China. He earned both a master of science degree and doctor of philosophy degree in biological sciences from Florida International University in Miami. Dr. Gao completed his postdoctoral training at the University of Pennsylvania Perelman School of Medicine in Philadelphia.

Genetic diseases are conditions that result from changes or mutations in an individual's DNA or genetic material.

These changes can affect the normal functioning of genes and lead to a wide range of health problems, including physical, developmental and cognitive issues. Genetic diseases can be inherited from parents or occur spontaneously due to genetic mutations.10 It is estimated there are more than 10,000 known rare diseases that exist globally, with 80 percent of these having identified genetic origins.11 Less than 10 percent of rare diseases have an approved treatment option.12

Genetic diseases can be caused by a defect in a single gene (also termed monogenic disorders) or by mutations in multiple genes, or by damage to chromosomes resulting in changes to the structure of the chromosome.13 There are between 5,000–8,000 monogenic diseases.14 More than 4,000 monogenic mutations account for at least 80 percent of all rare diseases. These often manifest during childhood and remain largely untreatable, leading to morbidity and sometimes premature death.15 Sickle cell anemia is an example of a monogenic disorder and Down syndrome is an example of a chromosomal disorder.

References

  1. National Human Genome Research Institute (NHGRI). For Patients and Families: Genetic Disorders [online]; Updated May 18, 2018. Available at: https://www.genome.gov/For-Patients-and-Families/ Genet c-Disorders [Accessed March 25, 2023].
  2. Global Genes. RARE List (online).15 April 2016. Available at: https://globalgenes.org/rarelist/ [Accessed March 25, 2023].
  3. Pharmaceutical Research and Manufacturers of America. Scientific Innovation: Progress in Fighting Rare Diseasess. Updated: March 2023. Available at: https://phrma.org/Scientific-Innovation/ Progress-in-Fighting-Rare-Diseases. [Accessed March 25, 2023].
  4. National Human Genome Research Institute (NHGRI). For Patients and Families: Genetic Disorders [online]; Updated May 18, 2018. Available at: https://www.genome.gov/For-Patients-and-Families/ Genetic-Disorders [Accessed March 25, 2023].
  5. Prakash V, Moore M, Yáñez-Muñoz RJ. Current Progress in Therapeutic Gene Editing for Monogenic Diseases. Mol Ther. 2016;24(3):465-474. doi:10.1038/mt.2016.5.
  6. Condò I. Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies. Int J Mol Sci. 2022 Jun 10;23(12):6525. doi: 10.3390/ijms23126525. PMID: 35742964; PMCID: PMC9223693.
At Relief Therapeutics, we are leveraging our strength and experience to identify monogenic disorders in therapeutic areas that align with our areas of focus, such as rare metabolic diseases. We are actively seeking strategic relationships and creative collaborations with biopharmaceutical partners that have rare disease assets as well as with leading academic institutions that are developing these emerging technologies. We want to work with innovators who share our commitment and focus to bring these pioneering medicines to patients.
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