Developing replacement
therapies for rare genetic disorders

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Mission

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There are approximately 7,000 rare disorders worldwide. Each day more are being discovered. 95% of rare diseases have not one single FDA approved treatment. Glycomine develops therapeutics for diseases which have no treatment options.

We focus on genetic disorders of protein and lipid glycosylation, which often cause severe debilitation in patients. There are 100 known glycosylation disorders. Glycomine is currently addressing 2 disorders of glycosylation: CDG-Ia and Ngly1 deficiency.

Glycomine’s therapeutic approach is to combine replacement therapies – substrates, enzymes, or proteins – with intracellular delivery vehicles consisting of bio-nanomaterials or ligands that target the molecules to the cell interior of clinically relevant organs.

Our CDG-Ia program is currently in early pre-clinical development. We are at the early stages of research for Ngly1 deficiency.

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Team

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We are a team of scientists whose mission is to develop treatment options for patients and families that have no therapeutic alternatives. We are experts in covering many aspects of orphan drug research and development.

Agnes
Rafalko

Ph.D.
Chief Executive Officer and President

Dr. Rafalko is currently Glycomine’s President and Chief Executive Officer. Agnes has twelve years of experience in scientific research and management in the pharmaceutical and biotechnology industries. She founded Glycomine to focus on research and development of substrate and enzyme replacement therapies for rare genetic disorders of protein glycosylation and misfolding. She directs the strategic as well as daily operations across scientific and business initiatives at Glycomine. Agnes led the company’s fundraising efforts for Seed and Series A raising nearly $13M to-date. Prior to Glycomine, she was a Scientist at BioMarin, where she led the implementation of new analytical platform technologies for enzyme products. She has played a strategic role in cross-functional research and development of several enzyme replacement therapies for lysosmal storage disorders. Agnes also held the position of Scientist at Intrexon, Pfizer, and NSF International within the analytical development, manufacturing, and quality control divisions for biosimilars and small molecule therapeutics. Dr. Rafalko received a B.S. in Chemistry from University of Saint Joseph and a Ph.D. in Chemistry with a focus on Proteomics and Nanomedicine at Northeastern University.

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Dr. Rafalko is currently Glycomine’s President and Chief Executive Officer. Agnes has twelve years of experience in scientific research and management in the pharmaceutical and biotechnology industries. She founded Glycomine to focus on research and development of substrate and enzyme replacement therapies for rare genetic disorders of protein glycosylation and misfolding. She directs the strategic as well as daily operations across scientific and business initiatives at Glycomine. Agnes led the company’s fundraising efforts for Seed and Series A raising nearly $13M to-date. Prior to Glycomine, she was a Scientist at BioMarin, where she led the implementation of new analytical platform technologies for enzyme products. She has played a strategic role in cross-functional research and development of several enzyme replacement therapies for lysosmal storage disorders. Agnes also held the position of Scientist at Intrexon, Pfizer, and NSF International within the analytical development, manufacturing, and quality control divisions for biosimilars and small molecule therapeutics. Dr. Rafalko received a B.S. in Chemistry from University of Saint Joseph and a Ph.D. in Chemistry with a focus on Proteomics and Nanomedicine at Northeastern University.

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Agnes
Rafalko

Ph.D.
Chief Executive Officer and President

Deirdre
Foley

Ph.D.
Scientific Director, Biology

Deirdre oversees all cellular and molecular biology operations to support drug research and development programs at Glycomine. She is directly responsible for all activities related to recombinant protein production and development of biochemical and cellular assays. Previous to Glycomine, Deirdre led molecular and cell biology efforts in studies of early events in HIV-1/SIV infection at Northwestern University. Her expertise in glycobiology comes from studies of glycosylation of the neural cell adhesion molecule. Deirdre obtained a B.A. in Genetics from Trinity College Dublin and a Ph.D. in Biochemistry and Molecular Genetics from University of Illinois at Chicago.

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Deirdre oversees all cellular and molecular biology operations to support drug research and development programs at Glycomine. She is directly responsible for all activities related to recombinant protein production and development of biochemical and cellular assays. Previous to Glycomine, Deirdre led molecular and cell biology efforts in studies of early events in HIV-1/SIV infection at Northwestern University. Her expertise in glycobiology comes from studies of glycosylation of the neural cell adhesion molecule. Deirdre obtained a B.A. in Genetics from Trinity College Dublin and a Ph.D. in Biochemistry and Molecular Genetics from University of Illinois at Chicago.

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Deirdre
Foley

Ph.D.
Scientific Director, Biology

Teppei
Shirakura

Ph.D.
Scientific Director, Chemistry

Teppei is a Biophysicist with expertise in the development of hydrogel nanoparticles for targeted and controlled drug release for cancer therapy, diagnosis, and imaging. He leads the design and synthesis of nanotechnology-based platforms for intracellular delivery of Glycomine’s therapies. Teppei obtained a B.S. in Biophysics from Iowa State University and a Ph.D. in Biophysics from University of Michigan.

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Teppei is a Biophysicist with expertise in the development of hydrogel nanoparticles for targeted and controlled drug release for cancer therapy, diagnosis, and imaging. He leads the design and synthesis of nanotechnology-based platforms for intracellular delivery of Glycomine’s therapies. Teppei obtained a B.S. in Biophysics from Iowa State University and a Ph.D. in Biophysics from University of Michigan.

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Teppei
Shirakura

Ph.D.
Scientific Director, Chemistry

Samuel
Greenberg

BS
Senior Research Associate

Samuel is a recent graduate from University of California Santa Cruz where he earned a B.S in Molecular, Cell & Developmental Biology. He assists team members on various aspects of drug research and development processes.

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Samuel is a recent graduate from University of California Santa Cruz where he earned a B.S in Molecular, Cell & Developmental Biology. He assists team members on various aspects of drug research and development processes.

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Samuel
Greenberg

BS
Senior Research Associate

Naoko
Matsui

M.S.
Senior Research Associate

Naoko is a recent graduate from California State University where she earned a M.S. in Chemistry. She is very passionate about developing biotechnology products of exceptional quality. Naoko is responsible for implementing processes for reproducible expression, purification, and analyses of recombinant enzymes at Glycomine. Previous to Glycomine, Naoko led quality control projects for R&D, manufacturing, and information systems at DMG MORI. She also worked as a Chemical Analyst of cosmetic and pharmaceutical materials at DAITO KASEI and ROHTO.

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Naoko is a recent graduate from California State University where she earned a M.S. in Chemistry. She is very passionate about developing biotechnology products of exceptional quality. Naoko is responsible for implementing processes for reproducible expression, purification, and analyses of recombinant enzymes at Glycomine. Previous to Glycomine, Naoko led quality control projects for R&D, manufacturing, and information systems at DMG MORI. She also worked as a Chemical Analyst of cosmetic and pharmaceutical materials at DAITO KASEI and ROHTO.

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Naoko
Matsui

M.S.
Senior Research Associate

Patrice
Rioux

MD, PhD
Chief Medical Officer

Dr. Patrice Rioux has been deeply involved in development of drugs for rare diseases for the last 20 years. His background includes development of drugs and biologic products for various indications across neurodegenerative diseases, immunology, pain management, oncology, and metabolic diseases. He was most recently the Senior Vice-president of Global Clinical Development at ArmaGen, Inc., a company focused on the development of fusion proteins for the treatment of lysosomal storage diseases, and before that, he was the Chief Medical Officer for Raptor Pharmaceuticals, Inc. where he was responsible for securing regulatory approval of a delayed-release cysteamine for the treatment of a lysosomal storage disease, nephropathic cystinosis, in both the U.S. and Europe. He previously served as Chief Medical Officer at Edison Pharmaceuticals, and as Vice President Clinical at Repligen, where he gained significant orphan disease experience in mitochondrial diseases as well as in autism and auto-immune diseases. After several years as a clinical researcher at INSERM (France), he started his career in the pharmaceutical industry at Biogen, working on multiple sclerosis, before joining Variagenics, Inc., one of the first pharmacogenomic companies. Dr. Rioux received his Medical Education at Faculte de Medecine Pitie-Salpetriere, his Ph.D. in Mathematical Statistics at Faculte des Sciences, and his Degree of Pharmacology (pharmacokinetics and clinical pharmacology) at Faculte de Medecine Pitie-Salpetriere.

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Dr. Patrice Rioux has been deeply involved in development of drugs for rare diseases for the last 20 years. His background includes development of drugs and biologic products for various indications across neurodegenerative diseases, immunology, pain management, oncology, and metabolic diseases. He was most recently the Senior Vice-president of Global Clinical Development at ArmaGen, Inc., a company focused on the development of fusion proteins for the treatment of lysosomal storage diseases, and before that, he was the Chief Medical Officer for Raptor Pharmaceuticals, Inc. where he was responsible for securing regulatory approval of a delayed-release cysteamine for the treatment of a lysosomal storage disease, nephropathic cystinosis, in both the U.S. and Europe. He previously served as Chief Medical Officer at Edison Pharmaceuticals, and as Vice President Clinical at Repligen, where he gained significant orphan disease experience in mitochondrial diseases as well as in autism and auto-immune diseases. After several years as a clinical researcher at INSERM (France), he started his career in the pharmaceutical industry at Biogen, working on multiple sclerosis, before joining Variagenics, Inc., one of the first pharmacogenomic companies. Dr. Rioux received his Medical Education at Faculte de Medecine Pitie-Salpetriere, his Ph.D. in Mathematical Statistics at Faculte des Sciences, and his Degree of Pharmacology (pharmacokinetics and clinical pharmacology) at Faculte de Medecine Pitie-Salpetriere.

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Patrice
Rioux

MD, PhD
Chief Medical Officer

Kathlene
Powell

MS
Senior Director CMC & Quality Operations

Senior Director CMC & Quality Operations
Kathlene has over 28 years experience in Chemistry, Manufacturing, and Controls (CMC) and Quality management. She has held related management positions at Genentech, Covance Biotechnology Services, Inc., and Raptor Pharmaceutical, Inc. In a consulting capacity, Kathlene has served as the acting head of CMC and Quality functions in over ten organizations covering development through commercial manufacturing operations. Kathlene holds a BA degree in Chemistry from Doane College and a MS degree in Biochemistry from University of Missouri.

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Senior Director CMC & Quality Operations
Kathlene has over 28 years experience in Chemistry, Manufacturing, and Controls (CMC) and Quality management. She has held related management positions at Genentech, Covance Biotechnology Services, Inc., and Raptor Pharmaceutical, Inc. In a consulting capacity, Kathlene has served as the acting head of CMC and Quality functions in over ten organizations covering development through commercial manufacturing operations. Kathlene holds a BA degree in Chemistry from Doane College and a MS degree in Biochemistry from University of Missouri.

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Kathlene
Powell

MS
Senior Director CMC & Quality Operations

Mary Jo
Bagger

BS
Senior Director, Clinical Operations

Mary Jo Bagger has over 20 years of experience in the pharmaceutical and biotech industries, implementing clinical trials within both Sponsor and CRO organizations.  Her more than 10 years in small, rapidly growing contract organizations proved valuable in later industry positions.  She worked at BioMarin Pharmaceuticals and Raptor Pharmaceuticals during their early years and was responsible for building the clinical operations department while successfully overseeing the clinical trials for two different drugs that were approved by FDA and EMA.  She brings to Glycomine a passion for helping underserved patients such as those with rare and orphan diseases, and enthusiasm for building a team from the ground up.  Mary Jo obtained her B.S. in Biology at University of California San Diego.

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Mary Jo Bagger has over 20 years of experience in the pharmaceutical and biotech industries, implementing clinical trials within both Sponsor and CRO organizations.  Her more than 10 years in small, rapidly growing contract organizations proved valuable in later industry positions.  She worked at BioMarin Pharmaceuticals and Raptor Pharmaceuticals during their early years and was responsible for building the clinical operations department while successfully overseeing the clinical trials for two different drugs that were approved by FDA and EMA.  She brings to Glycomine a passion for helping underserved patients such as those with rare and orphan diseases, and enthusiasm for building a team from the ground up.  Mary Jo obtained her B.S. in Biology at University of California San Diego.

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Mary Jo
Bagger

BS
Senior Director, Clinical Operations

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Board of Directors

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Our board of directors are well-regarded scientists, physicians, and entrepreneurs dedicated to finding solutions for rare genetic disorders. They will facilitate an effective transition of our targets into pre-clinical and clinical stages of the therapeutic development.

Agnes
Rafalko

Ph.D.
Chief Executive Officer and President

Dr. Rafalko is currently Glycomine’s President and Chief Executive Officer. Agnes has twelve years of experience in scientific research and management in the pharmaceutical and biotechnology industries. She founded Glycomine to focus on research and development of substrate and enzyme replacement therapies for rare genetic disorders of protein glycosylation and misfolding. She directs the strategic as well as daily operations across scientific and business initiatives at Glycomine. Agnes led the company’s fundraising efforts for Seed and Series A raising nearly $13M to-date. Prior to Glycomine, she was a Scientist at BioMarin, where she led the implementation of new analytical platform technologies for enzyme products. She has played a strategic role in cross-functional research and development of several enzyme replacement therapies for lysosmal storage disorders. Agnes also held the position of Scientist at Intrexon, Pfizer, and NSF International within the analytical development, manufacturing, and quality control divisions for biosimilars and small molecule therapeutics. Dr. Rafalko received a B.S. in Chemistry from University of Saint Joseph and a Ph.D. in Chemistry with a focus on Proteomics and Nanomedicine at Northeastern University.

Read less

Dr. Rafalko is currently Glycomine’s President and Chief Executive Officer. Agnes has twelve years of experience in scientific research and management in the pharmaceutical and biotechnology industries. She founded Glycomine to focus on research and development of substrate and enzyme replacement therapies for rare genetic disorders of protein glycosylation and misfolding. She directs the strategic as well as daily operations across scientific and business initiatives at Glycomine. Agnes led the company’s fundraising efforts for Seed and Series A raising nearly $13M to-date. Prior to Glycomine, she was a Scientist at BioMarin, where she led the implementation of new analytical platform technologies for enzyme products. She has played a strategic role in cross-functional research and development of several enzyme replacement therapies for lysosmal storage disorders. Agnes also held the position of Scientist at Intrexon, Pfizer, and NSF International within the analytical development, manufacturing, and quality control divisions for biosimilars and small molecule therapeutics. Dr. Rafalko received a B.S. in Chemistry from University of Saint Joseph and a Ph.D. in Chemistry with a focus on Proteomics and Nanomedicine at Northeastern University.

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Agnes
Rafalko

Ph.D.
Chief Executive Officer and President

Christopher
Starr

Ph.D.
Executive Chairman

Dr. Starr has served on Glycomine’s board since April 2016. Dr. Starr co-founded and serves as Executive Chairman of Monopar Therapeutics, focusing on orphan oncology, since March 2015 and was co-founder and Chief Executive Officer of Raptor Pharmaceutical since its inception in 2006 until 2015. As Chief Executive Officer, Dr. Starr built Raptor from a startup to a 130 person NASDAQ FIBCO having in development two Phase 2 programs and achieving one orphan drug approval in 2013 projected to generate $130M annual revenue in 2016. Raptor was acquired by Horizon Pharma plc. in October of 2016 for $800M. Prior to starting Raptor, Dr. Starr co-founded BioMarin Pharmaceutical Inc. in 1997 where he last served as Senior Vice President and Chief Scientific Officer until 2006 responsible for managing a Scientific Operations team of 181 research, process development, manufacturing and quality personnel through the successful development of commercial manufacturing processes for its enzyme replacement products, and supervised the cGMP design, construction and licensing of BioMarin’s proprietary biological manufacturing facility. Dr. Starr has extensive experience in developing and commercializing biologic and small molecule therapeutics in the orphan genetic disease space through six drug approvals and multiple commercial launches. Dr. Starr was recipient of a National Research Council Associate Award while a post-doc at the National Institutes of Health in Bethesda, MD. Dr. Starr earned a B.S. from Syracuse University and a Ph.D. in Biochemistry and Molecular Biology from the State University of New York Health Science Center.

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Dr. Starr has served on Glycomine’s board since April 2016. Dr. Starr co-founded and serves as Executive Chairman of Monopar Therapeutics, focusing on orphan oncology, since March 2015 and was co-founder and Chief Executive Officer of Raptor Pharmaceutical since its inception in 2006 until 2015. As Chief Executive Officer, Dr. Starr built Raptor from a startup to a 130 person NASDAQ FIBCO having in development two Phase 2 programs and achieving one orphan drug approval in 2013 projected to generate $130M annual revenue in 2016. Raptor was acquired by Horizon Pharma plc. in October of 2016 for $800M. Prior to starting Raptor, Dr. Starr co-founded BioMarin Pharmaceutical Inc. in 1997 where he last served as Senior Vice President and Chief Scientific Officer until 2006 responsible for managing a Scientific Operations team of 181 research, process development, manufacturing and quality personnel through the successful development of commercial manufacturing processes for its enzyme replacement products, and supervised the cGMP design, construction and licensing of BioMarin’s proprietary biological manufacturing facility. Dr. Starr has extensive experience in developing and commercializing biologic and small molecule therapeutics in the orphan genetic disease space through six drug approvals and multiple commercial launches. Dr. Starr was recipient of a National Research Council Associate Award while a post-doc at the National Institutes of Health in Bethesda, MD. Dr. Starr earned a B.S. from Syracuse University and a Ph.D. in Biochemistry and Molecular Biology from the State University of New York Health Science Center.

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Christopher
Starr

Ph.D.
Executive Chairman

Peter
McWilliams

Ph.D, MBA
Managing Director at Sanderling Ventures

Peter has more than twenty years experience in biomedical research and management. He works actively with Sanderling portfolio companies often as a key member of the management team. Portfolio companies include Actimis Pharmaceuticals (sold to Boehringer Ingelheim), Artielle Immunotherapeutics, Axikin Pharmaceuticals, Calcimedica, Glycomine and Liphorus Pharmaceuticals. Prior to joining Sanderling, Dr. McWilliams worked at Genentech where, as a Product Manager in Oncology Commercial Development, he managed a pipeline of oncology products in clinical and pre-clinical development and was the Commercial Team Leader for Avastin. Prior to that he was an Associate with Booz & Co (now PwC) in San Francisco where he focused on consulting projects for major US and International life science companies. Prior to that he worked for Oxford Molecular, one of the first companies in the field of rational drug design and bio-informatics, where he helped to set up and establish their US operations prior to their successful IPO on the London Stock Exchange. Dr. McWilliams received an M.B.A. from Columbia Business School, where he was an R.C. Kopf Fellow and was elected to Beta Gamma Sigma. He received a Ph.D. and M.A. in Chemistry from Princeton University where he received a Hugh Scott Taylor fellowship. He received a B.A. in Natural Sciences from Cambridge University.

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Peter has more than twenty years experience in biomedical research and management. He works actively with Sanderling portfolio companies often as a key member of the management team. Portfolio companies include Actimis Pharmaceuticals (sold to Boehringer Ingelheim), Artielle Immunotherapeutics, Axikin Pharmaceuticals, Calcimedica, Glycomine and Liphorus Pharmaceuticals. Prior to joining Sanderling, Dr. McWilliams worked at Genentech where, as a Product Manager in Oncology Commercial Development, he managed a pipeline of oncology products in clinical and pre-clinical development and was the Commercial Team Leader for Avastin. Prior to that he was an Associate with Booz & Co (now PwC) in San Francisco where he focused on consulting projects for major US and International life science companies. Prior to that he worked for Oxford Molecular, one of the first companies in the field of rational drug design and bio-informatics, where he helped to set up and establish their US operations prior to their successful IPO on the London Stock Exchange. Dr. McWilliams received an M.B.A. from Columbia Business School, where he was an R.C. Kopf Fellow and was elected to Beta Gamma Sigma. He received a Ph.D. and M.A. in Chemistry from Princeton University where he received a Hugh Scott Taylor fellowship. He received a B.A. in Natural Sciences from Cambridge University.

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Peter
McWilliams

Ph.D, MBA
Managing Director at Sanderling Ventures

Giacomo
Chiesi

MBA
Managing Partner at Chiesi Ventures

Giacomo Chiesi has over ten years of experience as a Board Member at the Chiesi Group, his family business. He currently serves both as Managing Partner at Chiesi Ventures and as Business Development Executive at Chiesi USA. In his tenure with the Chiesi Group he has directly structured and executed deals with $2B in value ranging from sell-side to buy-side M&A, to in- and out-licensing, and spin-outs. In 2014, he founded Chiesi Ventures as a joint venture with Pappas Capital. Before going back to the Chiesi Group, Giacomo was a consultant with Bain & Co, where he led teams in a variety of assignments including due diligence, restructuring and strategy projects for consumer goods and IT companies in different countries. Previously he was with Accenture where he led large teams in outsourcing projects across Europe and US for clients in the transportation and retail business. Giacomo earned a M.Sc. degree Magna cum Laude in Telecommunications Engineering from the University of Parma, Italy, and an M.B.A. from the University of Chicago Booth School of Business with concentrations in Entrepreneurship and Finance. He currently serves as a Board Member or Observer on the Board of Chiesi, Chiesi USA, Aura Bioscience, Minoryx Therapeutics, and Glycomine. He also sits on the Advisory Board of Abingworth Capital Partners and Mercurio Capital Partners.

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Giacomo Chiesi has over ten years of experience as a Board Member at the Chiesi Group, his family business. He currently serves both as Managing Partner at Chiesi Ventures and as Business Development Executive at Chiesi USA. In his tenure with the Chiesi Group he has directly structured and executed deals with $2B in value ranging from sell-side to buy-side M&A, to in- and out-licensing, and spin-outs. In 2014, he founded Chiesi Ventures as a joint venture with Pappas Capital. Before going back to the Chiesi Group, Giacomo was a consultant with Bain & Co, where he led teams in a variety of assignments including due diligence, restructuring and strategy projects for consumer goods and IT companies in different countries. Previously he was with Accenture where he led large teams in outsourcing projects across Europe and US for clients in the transportation and retail business. Giacomo earned a M.Sc. degree Magna cum Laude in Telecommunications Engineering from the University of Parma, Italy, and an M.B.A. from the University of Chicago Booth School of Business with concentrations in Entrepreneurship and Finance. He currently serves as a Board Member or Observer on the Board of Chiesi, Chiesi USA, Aura Bioscience, Minoryx Therapeutics, and Glycomine. He also sits on the Advisory Board of Abingworth Capital Partners and Mercurio Capital Partners.

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Giacomo
Chiesi

MBA
Managing Partner at Chiesi Ventures

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Advisors

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Our advisors are well-regarded scientists, physicians, and entrepreneurs dedicated to finding solutions for rare genetic disorders. They will facilitate an effective transition of our targets into pre-clinical and clinical stages of the therapeutic development.

Gregory
Enns

M.D.
Stanford Medicine

Dr. Enns is a Professor of Pediatrics and Director of the Biochemical Genetics Program at Stanford University. After receiving his medical degree from the University of Glasgow, he trained in Pediatrics at Children's Hospital Los Angeles, and in Clinical Genetics and Clinical Biochemical Genetics at the University of California, San Francisco. 

He has extensive experience in the diagnosis and management of inborn errors of metabolism, including congenital disorders of glycosylation, mitochondrial disorders, and lysosomal storage disorders. Dr. Enns also performs translational research focusing on the development of a sensitive panel of redox biomarkers to study disorders of energy metabolism, and participates in clinical trials aimed at developing novel treatments for inborn errors of metabolism.

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Dr. Enns is a Professor of Pediatrics and Director of the Biochemical Genetics Program at Stanford University. After receiving his medical degree from the University of Glasgow, he trained in Pediatrics at Children's Hospital Los Angeles, and in Clinical Genetics and Clinical Biochemical Genetics at the University of California, San Francisco. 

He has extensive experience in the diagnosis and management of inborn errors of metabolism, including congenital disorders of glycosylation, mitochondrial disorders, and lysosomal storage disorders. Dr. Enns also performs translational research focusing on the development of a sensitive panel of redox biomarkers to study disorders of energy metabolism, and participates in clinical trials aimed at developing novel treatments for inborn errors of metabolism.

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Gregory
Enns

M.D.
Stanford Medicine

Matt
Wilsey

President
Grace Wilsey Foundation

Matt is a Silicon Valley entrepreneur, angel investor, and advisor. In addition to consumer products and services, Matt invests in and advocates in biomedical research, drug development, and genetic sequencing technologies. Before moving to the investment side, he spent many years as a front-line operator. Most recently, Matt was Co-Founder and Chief Revenue Officer of Card Spring, a payment infrastructure company that was acquired by Twitter. Previously, Matt ran West coast sales and business development for Howcast.com. Before Howcast, Matt worked for Kohlberg Kravis Roberts (KKR) on the Capital Markets team. Prior to that, Matt spent five years as a Co-Founder and Vice President of Business Development at Zazzle.com.

He started his career serving in various roles at the White House and the Department of Defense. Matt became a rare disease advocate after his daughter Grace was born with Ngly1 deficiency. The Grace Wilsey Foundation has founded 20 research teams accounting for over 50 scientists in 3 countries with the sole purpose of curing the disease. Matt holds a B.A. from Stanford University and a M.B.A. from Stanford’s Graduate School of Business.

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Matt is a Silicon Valley entrepreneur, angel investor, and advisor. In addition to consumer products and services, Matt invests in and advocates in biomedical research, drug development, and genetic sequencing technologies. Before moving to the investment side, he spent many years as a front-line operator. Most recently, Matt was Co-Founder and Chief Revenue Officer of Card Spring, a payment infrastructure company that was acquired by Twitter. Previously, Matt ran West coast sales and business development for Howcast.com. Before Howcast, Matt worked for Kohlberg Kravis Roberts (KKR) on the Capital Markets team. Prior to that, Matt spent five years as a Co-Founder and Vice President of Business Development at Zazzle.com.

He started his career serving in various roles at the White House and the Department of Defense. Matt became a rare disease advocate after his daughter Grace was born with Ngly1 deficiency. The Grace Wilsey Foundation has founded 20 research teams accounting for over 50 scientists in 3 countries with the sole purpose of curing the disease. Matt holds a B.A. from Stanford University and a M.B.A. from Stanford’s Graduate School of Business.

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Matt
Wilsey

President
Grace Wilsey Foundation

Jaak
Jaeken

MD, PhD
University of Leuven

Dr. Jaak Jaeken is an emeritus professor of pediatrics at the University of Leuven, Belgium. He received his MD degree from the University of Leuven in 1967. He trained in pediatrics at the same university until 1973. Subsequently, he completed a fellowship in metabolic diseases at the University of Zürich in the laboratory of prof. Richard Gitzelmann. In 1975 he returned to Leuven as a clinical investigator in inherited metabolic disorders of ammonia, amino acids, neurotransmitters, purines, and congenital disorders of glycosylation which he first described in 1980. He received his Ph.D. in 1985. He is an author/co-author on 348 peer-reviewed papers including some 140 peer-reviewed papers on congenital disorders of glycosylation. He received honorary degrees of Doctor Honoris Causa from the University of Zürich and the University of Havana in 1999 and 2000, respectively. In 2004 he was awarded the “Körber European Science Award” for his work on congenital disorders of glycosylation together with professors K. von Figura, M. Aebi, Th. Hennet, L. Lehle, and G. Matthijs.

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Dr. Jaak Jaeken is an emeritus professor of pediatrics at the University of Leuven, Belgium. He received his MD degree from the University of Leuven in 1967. He trained in pediatrics at the same university until 1973. Subsequently, he completed a fellowship in metabolic diseases at the University of Zürich in the laboratory of prof. Richard Gitzelmann. In 1975 he returned to Leuven as a clinical investigator in inherited metabolic disorders of ammonia, amino acids, neurotransmitters, purines, and congenital disorders of glycosylation which he first described in 1980. He received his Ph.D. in 1985. He is an author/co-author on 348 peer-reviewed papers including some 140 peer-reviewed papers on congenital disorders of glycosylation. He received honorary degrees of Doctor Honoris Causa from the University of Zürich and the University of Havana in 1999 and 2000, respectively. In 2004 he was awarded the “Körber European Science Award” for his work on congenital disorders of glycosylation together with professors K. von Figura, M. Aebi, Th. Hennet, L. Lehle, and G. Matthijs.

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Jaak
Jaeken

MD, PhD
University of Leuven

Eva
Morava

MD, PhD
University of Pecs

Dr. Eva Morava received her Medical Doctor degree from University of Pecs, Hungary. She specialized in pediatrics and human genetics in 1994 and 1999, respectively. Dr. Morava defended her PhD thesis in molecular cytogenetic investigations in intellectual disability syndromes in 2000. Additionally, she trained in clinical biochemical genetics at Tulane University between 1996-1998 and stayed on as a clinical geneticist until 2002 in addition to her role as a metabolic pediatrician at Radboudumc in the Netherlands until 2012. She has been a full professor at Tulane University Medical Center and biochemical geneticist at the Hayward Genetics Center since 2012. She also joined the faculty staff at the University Hospitals Leuven in Belgium in 2015. Eva is a member of national and international committees and scientific advice groups including the SSIEM council. Her list of publications includes more than 200 peer reviewed scientific papers. Her special research interests are in congenital disorders of glycosylation and developing new therapies with PMM2-CDG and PGM1-CDG being her current focus. She has a strong collaboration in that area with Radboudumc Center for CDG. Dr. Morava is the chief editor of the Journal of Inherited Metabolic Disorders. Eva collaborates with the international network CDG & Allies – PPAIN and shares her expertise as a member of the advisory committee of CDG Care. She is also the vice coordinator for MetabERN & coordinator for the sub-network glycosylation disorders.

Dr. Eva Morava's personal statement

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Dr. Eva Morava received her Medical Doctor degree from University of Pecs, Hungary. She specialized in pediatrics and human genetics in 1994 and 1999, respectively. Dr. Morava defended her PhD thesis in molecular cytogenetic investigations in intellectual disability syndromes in 2000. Additionally, she trained in clinical biochemical genetics at Tulane University between 1996-1998 and stayed on as a clinical geneticist until 2002 in addition to her role as a metabolic pediatrician at Radboudumc in the Netherlands until 2012. She has been a full professor at Tulane University Medical Center and biochemical geneticist at the Hayward Genetics Center since 2012. She also joined the faculty staff at the University Hospitals Leuven in Belgium in 2015. Eva is a member of national and international committees and scientific advice groups including the SSIEM council. Her list of publications includes more than 200 peer reviewed scientific papers. Her special research interests are in congenital disorders of glycosylation and developing new therapies with PMM2-CDG and PGM1-CDG being her current focus. She has a strong collaboration in that area with Radboudumc Center for CDG. Dr. Morava is the chief editor of the Journal of Inherited Metabolic Disorders. Eva collaborates with the international network CDG & Allies – PPAIN and shares her expertise as a member of the advisory committee of CDG Care. She is also the vice coordinator for MetabERN & coordinator for the sub-network glycosylation disorders.

Dr. Eva Morava's personal statement

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Eva
Morava

MD, PhD
University of Pecs

5

Science

5

A congenital disorder of glycosylation is one of several rare inborn errors of metabolism in which glycosylation (sugar coating) of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems in affected infants.

Congenital disorder of glycosylation type Ia

CDG-Ia is a genetic metabolic disorder caused by a deficiency of cytosolic enzyme phosphomannomutase 2 (encoded by the gene PMM2), which is required for the conversion of mannose-6-phosphate to mannose-1- phosphate required for the synthesis of GDP-mannose, the donor of mannose to a growing lipid-linked oligosaccharide (LLO) precursor. As a result, the incorporation of mannose into LLO is reduced, and glycoproteins lacking complete N-linked glycans are synthesized.

The body’s failure to produce complete N-linked glycans causes highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood. The severe cellular and organ dysfunction of CDG-Ia typically leads to death in early childhood.

There are currently no FDA approved treatments specific to CDG-Ia for more than 1000 patients worldwide. Supportive care is aimed at treating symptoms and sequelae.

Glycomine is working on the development of mannose-1-phosphate replacement therapy intended to bypass the genetic block in the mannose-1- phosphate pathway and provide continuous exposure over long periods of time. It is expected that such treatment will supply mannose-1-phosphate into affected cells, which will incorporate it into N-glycans of glycoproteins and potentially restore fundamental bodily functions and improve quality of life for both patients and their families.

Ngly1 deficiency

Ngly1 is a genetic disorder of the endoplasmic reticulum-associated degradation pathway caused by a deficiency of a cytosolic enzyme N-glycanase 1 (encoded by the gene Ngly1), which is required for cleaving N-linked glycans from misfolded glycoproteins prior to degradation. Lacking N-glycanase leaves the body with an impaired capacity to degrade misfolded glycoproteins, which accumulate in the cells of patients.

Ngly1-deficient patients have a striking clinical triad consisting of abnormal tear production, choreoathetosis, liver disease, global developmental delay, acquired microcephaly, hypotonia, EEG abnormalities with or without overt seizures, brain imaging abnormalities, peripheral neuropathy, and constipation.

To date, 30 patients were diagnosed with Ngly1 deficiency. Efforts are ongoing to identify many more who may have been misdiagnosed with diseases of similar physical characteristics.

There are currently no FDA approved treatments specific to Ngly1 deficiency. Supportive care is aimed at treating symptoms and sequelae.

Together with the Grace Wilsey Foundation, Glycomine is working on the development of recombinant human Ngly1 enzyme replacement therapy intended to replace the deficient enzyme to restore the process of misfolded glycoprotein degradation.

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Progress and News

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Progress

Press release
16.11.16

Glycomine, Inc. Announces $12 Million Series A Financing to Advance a New Generation of Replacement Therapies for Rare Diseases

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Glycomine, Inc. Announces $12 Million Series A Financing to Advance a New Generation of Replacement Therapies for Rare Diseases

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Press release
16.11.16

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