international metabolic conference · ogy from dartmouth college in 1991 working on the role of...

Organic Acidemia Association

www.oaanews.org

FOD | OAA International Metabolic Conference

JULY 6 – 7 2018 Bloomington Minnesota

Fatty Oxidation DisordersFamily Support Group

www.fodsupport.org

Mayo Medical Laboratories

mayomedicallaboratories.com

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THANK YOU to all of our sponsors!

JULY 2018 FOD | OAA International Metabolic Conference 3

FOD | OAA International Metabolic Conference

SPONSORSThank you to all of our volunteers and sponsors and to our Premier Sponsor

Mayo Medical Laboratories. We could not have hosted this conference without you!

GOLD SPONSORS ($10,000-$5,000)

Mayo Medical Laboratories Raynes Lawn Hehmeyer

Hemoshear TherapeuticsModerna Therapeutics Leadiant Biosciences

Jerry Vockley MD, PhD in memory of Emma WeidenerUltragenyx Pharmaceutical Inc.

SILVER SPONSORS ($4,999-$2,500)

Recordati Rare DiseasesKaleido Biosciences

Nutricia Advanced Medical NutritionLogicBio Therapeutics

Reneo Pharmaceuticals, IncICAGEN

BRONZE SPONSORS ($2,499 - $1,000)

The Pizzimenti Family (LCHAD) Prevention Genetics

Minnesota Department of Health

Vitaflo USACambrooke Therapeutics

Abbott Nutrition

SUPPORTERS ($999 and under)

Rare Patient Voice LLC Minnesota Rare Action Network

Support Group Organizations FOD Family Support Group

Organic Acidemia Association

In Kind DonationsLume Deodorant | Med-Diet, Inc.

Ener-G-Foods

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FATTY OXIDATIONDISORDERS GROUP

ORGANIC ACIDEMIA ASSOCIATION GROUP

6:30 - 8:00 am Hot Breakfast for Conference Registrants - ATRIUM (vouchers needed for registrants NOT staying at Embassy)

Introductions by Deb & Kathy - TAMARACK BALLROOM [Kids room open– NOKOMIS ROOM]8:00- 8:45 am KEYNOTE: Piero Rinaldo, MD, PhD, Mayo Clinic – TOPIC: What have I been doing since 2002? Milestones of a

personal journey and memorable encounters along the metabolic path.

8:15 am - 12 pm YOUTH: ITASCA ROOM Special FOD Talk with Steph Harry (LCHAD mom) Children Grades 2 to 5/6

8:45- 9:00 am Jennifer Cleary/Lena Eskin (NIH Caregiving Study)

TIME/ROOM SPEAKER TIME/ROOM SPEAKER9:00 - 9:45 am

TAMARACKNetwork Specific FODs in Groups

9:00 - 9:45 amCEDAR

D. Holmes Morton, MD Central Pennsylvania Clinic, Belleville, PAChuck Hehmeyer, Attorney Raynes Lawn Hehmeyer, Philadelphia, PATOPIC: Thoughts about Inborn Errors of Metabolism and Intermittent Crisis

9:45 - 10:30 am TAMARACK

Jerry Vockley, MD, PhDChildren’s Hospital of PittsburghTOPIC: New Therapies for FAODs

9:45 - 10:45 amCEDAR

Chuck Venditti, MD, PhD NHGRI/NIHTOPIC: How to Develop New Therapies for Methyl- and Propionic Acidemia (MMA and PA): Paradigms and Vignettes

10:30 - 10:45 am Break 10:45 - 11:00 am Break

10:45 - 11:30 amTAMARACK

Melanie Gillingham, PhD, RD Oregon Health & Science UniversityTOPIC: FOD Nutrition Guidelines

11:00 - 12:00 amCEDAR

Kim Chapman, MD, PhD, FACMG Children’s National Medical CenterTOPIC: Clinical Management of Organic Acidemias and OAA Natural History Registry


Susan Berry, MD University of MN, PediatricsTOPIC: Jumping into your gene pool: Understanding genetic test results

12:00 - 1:00 pm LUNCH BUFFET for ALL Conference Registrants - ATRIUM

1:15 - 2:15 pmTAMARACK

D. Holmes Morton, MD Central Pennsylvania Clinic, Belleville, PAChuck Hehmeyer, Attorney Raynes Lawn Hehmeyer, Philadelphia, PATOPIC: Emergency Protocols and Q & A session

1:00 - 1:30 pmCEDAR

1:30 - 2:15 pmCEDAR

Presentation/Award – Richard Bazzy Parent Introductions

Jerry Vockley, MD, PhD Children’s Hospital of Pittsburgh, PATOPIC: New Therapies for OAs

1:30 - 3:00 pm YOUTH: ITASCA ROOM Sibling Support Discussion with Jen Sloan, NIH – Open to Siblings ages 5 – 182:15 - 3:15 pmTAMARACK

Christopher Boys, PhD, LP Pediatric Neuropsychologist, University of MN Medical SchoolTOPIC: The psychology of metabolic conditions: The key to managing stress of FOD on parents and families

2:15 - 3:00 pmCEDAR

Michael Barry, PhD Mayo Clinic TOPIC: Gene Therapy for Propionic Acidemia

FOD | OAA International Metabolic Conference JULY 6 2018

FRIDAY AGENDA


FOD | OAA International Metabolic Conference JULY 7 2018

SATURDAY AGENDAFATTY OXIDATION DISORDERS AND

ORGANIC ACIDEMIA ASSOCIATION JOINT SESSION

Wear your FOD and OAA T-shirts

7:00 - 8:00 am Hot Breakfast for Conference Registrants - ATRIUM (vouchers needed for registrants NOT staying at Embassy)

8:00 - 8:15 am Introductions by Kathy & Deb in each room Remember PICTURES at 9:15am!! [Kids room open– NOKOMIS ROOM]

8:15 - 9:15 amFOD - TAMARACK

Breakout sessions/networking TOPIC: FOD Teen/Adult panel

8:15 - 9:15 amOAA - CEDAR

OA Breakout sessions/networking Young Adult PanelTOPIC- “The drug development process for a rare disease.” John Reardon, Hemoshear


Break - PICTURE OF EACH Individual GROUP WITH YOUR T-SHIRTS! Meet by the FOD and OAA wall Banners


JOINT Presentation – Mark Korson, MD TOPIC: I teach. You teach better

YOUTH10:00 - 11:00 am

ITASCA ROOM: Special FOD Talk with Steph Harry (LCHAD mom) Children Grades 2 to 5/6


JOINT Presentation - Susan Berry, MD Genetics & Metabolism, University of MNTOPIC: What are the Limits of Newborn Screening?

11:00 - 12:00 pm BOX Lunch in Atrium


JOINT Presentation - Christopher Boys, MD Pediatric Neuropsychologist, University of MinnesotaTOPIC: Neuropsychology and Metabolic Conditions: The neurocognitive profile of FOD/OAA and the benefits of neuropsychological assessment


JOINT Panel - : Professional Panel: Most of our Speakers

1:45 - 2:00 pm Ending Ceremony, Thank you’s and slide show See You in 2020!

3:15 - 3:30 pm Break 3:00 - 3:15 pm Break


Stephen Kahler, MD Arkansas Children’s HospitalTOPIC: Use of Carnitine/Variability of FOD Presentations

3:15 - 4:15 pmCEDAR

Mark Korson, MDVMP Genetics, LLCTOPIC: Mitochondrial Dysfunction in the OAs


Professional Panel: Q&A with several of our speakers

4:15 - 5:00 pmCEDAR

Oleg Shchelochkov, MD NIHTOPIC: What Happens after I Visit NIH for a Research Study?

5:00 pm Summary and THANK YOU’s!

6:00 - 9:00 pm RECEPTION for Conference Registrants - TAMARACK BALLROOM (with Cash Bar)

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FOD | OAA International Metabolic Conference 2018

CONFERENCE SPEAKERSThe FOD Family Support Group and the Organic Acidemia Association would like to extend our very sin-cere appreciation to all of our honored speakers. Our Families will benefit greatly from having them share their expertise and experiences in the various fields related to metabolic disorders. Thank you!

Michael A Barry, PhDDr. Barry received his Ph.D in Pharmacology and Toxicol-ogy from Dartmouth College in 1991 working on the role of apoptosis in anticancer agents with Dr. Alan Eastman. He was a post-doctoral fellow with Dr. Stephen Johnston at UT Southwestern Medical Center from 1992-1996 where he worked on gene guns, gene-based vaccines, selecting cell-targeting peptides, and adenovirus vector targeting. He joined the faculty in the Department of Molecular and Human Genetics and the Center for Cell and Gene Therapy at Baylor College of Medicine in 1996 with a joint appoint-ment in Bioengineering at Rice University. In 2006, Dr. Barry moved to Mayo Clinic and is a member of the Division of Infectious Diseases in the Department of Medicine, the De-partment of Immunology, and the Department of Molecular Medicine. His laboratory currently works on gene therapy, genetic vaccines, oncolytic viruses, and basic virology.

His laboratory developed a useful mouse model of propion-ic acidemia (PA). These mice carry a human gene for PCCA with an A138T mutation that was observed in a PA patient. These mice mimic the PA phenotype in this patient and ex-press only 2% of normal propionyl CoA carboxylase activity. They recapitulate many metabolic and physical symptoms that are observed in PA patients. They have elevations in propionylcarnitine, methylcitrate, glycine, and ammonia in their blood. They have perturbations in immune cells. They have increased cardiac mass and signs of dilated cardiomy-opathy. The animals show signs of neurological damage in-cluding decreased learning, increased anxiety, and seizures. Females have a stronger disease phenotype.

Dr. Barry’s group has shown that gene therapy can signifi-cantly and rapidly improve the course of the disease. For example, within 1 week of gene therapy, treated animals can feed on normal high protein diets and they rapidly gain weight.

They have tested liver-targeted gene therapy that mimics liver transplantation. They show that liver-targeted therapy does a good job in reducing blood metabolites, but does not repair damage in other tissues. In contrast, gene therapy to many tissues including the liver provides better metabol-ic control and tissue repair. Targeting gene therapy to the heart and muscle also does a good job in reducing blood metabolites, but has the added benefit of correcting cardiac damage due to the disease.

They have shown that a single gene therapy treatment can provide therapeutic benefits for the entire life of male mice (1.5 years). However, this treatment was only temporary in females. It is unclear whether this sex bias in phenotype and therapy will be observed in humans with PA. Work is under-way to evaluate these questions and to examine the biology and therapy of neurological damage in this PA model.

MICHAEL BARRY, PhDProfessor, Mayo Clinic200 First St. SW Rochester, MN [email protected]

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Susan A. Berry, MDSusan A. Berry, M.D. is Professor of Pediatrics and Genetics, Cell Biology and Development at the University of Minnesota. She is the Director of the Division of Genetics and Metabo-lism in the Department of Pediatrics. She received a BA in Bio-chemistry (Rice University 1975) and MD (Kansas University, 1978). She did her Residency in Pediatrics (1978-1981) and Fellowship in Medical Genetics (1981-1984) at the University of Minnesota and has been on the faculty there since 1984. She is a Fellow of the American Academy of Pediatrics and a Founding Fellow of the American College of Medical Genetics and Genomics. She is also a member of the Board of Directors for the Society for Inherited Metabolic Disorders, Co-Chair of the Steering Committee for the Newborn Screening Transla-tional Research Network, a member of the Council on Genet-ics for the American Academy of Pediatrics, and a member

of the Minnesota Department of Health Newborn Screening Advisory Committee. She is a current member of the federal Advisory Committee on Heritable Disorders in Newborns and Children .Like many genetics professionals, she sees adults and children with heritable conditions of all kinds. She has a particular interest in providing management for persons with inborn errors of metabolism and has a longstanding interest in improvement in their care through early diagnosis and treat-ment. Her research focuses on evaluation of long-term out-comes after newborn blood spot screening.

SUSAN A. BERRY, MDProfessor, Department of PediatricsUniversity of Minnesota 420 Delaware St SE MMC | Minneapolis, MN 55455

Christopher Boys, PhD, LPDr. Boys is an Associate Professor in the Department of Pe-diatrics. He is a Pediatric Neuropsychologist who completed his BA in Biology & Psychology at St. John’s University (MN); and an MA in Clinical Psychology at the University of Northern Iowa. He completed his PhD in Educational Psychology at the University of Minnesota. He also completed his clinical intern-ship and post-doctoral fellowship in Pediatric Neuropsychol-ogy, as well as a post-doctoral fellowship in Pediatric Psychol-ogy at the University of Minnesota Medical School.

Dr. Boys is a member of the American Psychological Associa-tion, the International Neuropsychological Society, and the National Academy of Neuropsychology. Dr. Boys is a mem-ber of the Training Committee for the University of Minnesota Medical School Psychology Internship Training program.

He is currently the Director of the Pediatric Psychology Pro-gram at the University of Minnesota. He has worked with ge-netic and metabolic disorders since 2004 and has focused on the neurocognitive profile of metabolic conditions, as well as adaptation to chronic disease and reducing barriers to treat-ment adherence. Research interests include: establishing a neurocognitive profile for early and continuously treated in-born errors of metabolism; neurodevelopmental outcome of high risk and premature neonates; family adaptation to chron-ic conditions. CHRISTOPHER BOYS, PHD, LPAssociate Professor, Department of PediatricsUniversity of MinnesotaDiscovery Clinic- 3rd Floor2512 S 7th Street | Minneapolis, MN 55454

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CONFERENCE SPEAKERSKimberly A Chapman MD PhD, FACMG, FAAP, FABIM

Dr. Kim Chapman is an associate professor of Pediatrics at the George Washington University Medical School and Health Sciences Center. She is also an attending geneticist at Chil-dren’s National Rare Disease Institute in Washington DC. Dr. Chapman received a B.S in chemistry and a B.A. in biology from Saint Louis University (St. Louis, MO), a Ph.D in mo-lecular biology and biochemistry from the University of Ne-braska, and a M.D. from the University of Nebraska College of Medicine. She subsequently trained in internal medicine and pediatrics at theUniversity of Pittsburgh Health Sciences Center in Pittsburgh, PA and clinical genetics and clinical bio-chemical genetics at the Children’s Hospital of Philadelphia, Philadelphia, PA. She is board certified in internal medicine, pediatrics, clinical genetics and clinical biochemical genetics. She divides her time between clinical activities in genetics and

metabolism at Children’s National and basic science research exploring energy metabolism in patients and their cells with propionic acidemia and methylmalonic aciduria with the aim of improving therapies and morbidity in organic acidemias and other energy deficiency inborn errors. Dr. Chapman is also the medical director for the OAA registry.

KIMBERLY A CHAPMAN MD PHDAssociate Professor of Pediatrics, George Washington UniversityChildren’s National Rare Disease Institute111 Michigan Ave NW | Washington DC [email protected] FAX: 202-476-2390

Jenny Cleary and Lena EskinJenny Cleary and Lena Eskin are postbaccalaureate research fellows at the National Institutes of Health who are interested in understanding how individuals and families navigate care-giving for children with inborn errors of metabolism. Jenny is pursuing her PhD in clinical psychology and Lena plans to attend medical school. As members of the Caregiving Study team, they meet with families who participate in studies at the NIH and those who participate via phone, and conduct inter-

views with parents, family members, and other caregivers of individuals diagnosed with inborn errors of metabolism. They enjoy getting to know families in the study and are

very grateful to all the participants who have shared their in-sights and experiences with them.

Jenny Cleary: [email protected] Eskin: [email protected] Research (Inherited Diseases, Caregiving, and Social Networks) Columbus Technologies & Services, Inc.SNMS | SBRB | NHGRI National Institutes of HealthStudy Phone: 301-219-3394Study Email: [email protected]


Melanie Gillingham, PhD, RDMy research focus is novel treatments for fatty acid oxidation disorders (FAOD). I have over 20 years’ experience conduct-ing clinical trials in subjects with disorders in the fatty acid oxidation pathway. One series of clinical trials examined the effects of medium chain triglycerides (MCT) prior to exercise on exercise performance among subjects with long-chain FAODs. We have evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, we supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders. We recently completed a

randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac func-tion of patients with long-chain fatty acid oxidation disorders. We have conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progres-sion of vision loss. A current focus on the lab is to further characterize the pathophysiology of LCHAD retinopathy and develop a novel treatment to prevent vision loss in patients.

MELANIE GILLINGHAM, PHD, RD Molecular and Medical Genetics Graduate Programs in Human Nutrition Oregon Health & Science University | Mailcode L103 3181 SW Sam Jackson Park Rd. | Portland, OR [email protected] | 503-494-1682

Deb Lee Gould, MEdDeb is Co-Founder and Director of the FOD (Fatty Oxidation Disorders) Family Support Group, an all-volunteer 501c3 non-profit and international Family Support Group for rare meta-bolic disorders (www.fodsupport.org). She and her husband, Dan, created the Group in 1991 in memory of their 21-month-old daughter, Kristen, who died suddenly in 1985 from undi-agnosed MCAD. They also have 2 adult sons, Kevin (MCAD, diagnosed at birth) and Brian (carrier).

As a local MI community outreach, Deb also offers pro bono one-on-one grief support to parents and other adult family members and friends living with the death of a child and other

loved ones of any age and from any cause. She also supports the FOD community via phone, emails, and skype. Deb re-ceived her Masters in Counseling in 1993 with a specialization in Grief Counseling.

DEB LEE GOULD, MEdDirector, FOD Family Support GroupMCAD Parent and Grief ConsultantCell: 517.381.1940 | Fax: [email protected] | [email protected] | www.bereavedparent.com PO Box 54 | Okemos, MI 48805-0054

Charles P HehmeyerChuck Hehmeyer graduated from University of Pennsylva-nia Law School in 1986. He is the only lawyer who regularly represents families who have children with inborn errors of metabolism. These disorders have included GA1, MCADD, PA, MMA, VLCADD, IVA, MSUD, PKU, GAMT, Citrullinemia, Pterin Disorders, Galactosemia, and Mitochondrial Disorders (e.g., Leigh’s Disease). For over 20 years, he has helped facilitate im-portant improvements in newborn metabolic screening. Mr. Hehmeyer often serves as lead counsel for major cases involv-ing metabolic disorders throughout the United States. These matters include delay in diagnosis of inborn errors (typically mistaking a metabolic presentation for infection); failure to screen for a particular metabolic disorder (e.g., delay in using expanded newborn screening); delays in performing newborn screening (improper sample selection time - both too early

and late, delays from batching samples, failure to send sam-ples promptly, sample mix-up, improper cutoffs); and failure in the E.D. to follow emergency protocols. Mr. Hehmeyer is admitted to practice in Pennsylvania and Washington State and, with co-counsel, has represented clients in: Maine, New Hampshire, Massachusetts, New York, New Jersey, Delaware, Ohio, Wisconsin, Illinois, Michigan, Florida, Georgia, Texas, Lou-isiana, North Carolina, California, Arizona, and Colorado.

CHARLES P. HEHMEYER, ESQUIRERaynes Lawn Hehmeyer1845 Walnut Street, 20th FloorPhiladelphia, PA 19103Phone: 215-568-6190 | Fax: 215-988-0618

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CONFERENCE SPEAKERSStephen Kahler, MD

Dr. Kahler received his MD degree from Duke, trained in Pe-diatrics at UCSD (where he learned about inborn errors from Dr. Bill Nyhan), then trained in clinical and biochemical genet-ics at UNC-Chapel Hill. Throughout his career he has been a clinician-educator, seeing patients and teaching, but he has always had strong affiliations with research physicians and sci-entists. He worked at Duke from 1983-1997, in the division of Genetics and Metabolism directed by Dr. Roe. He was part of the team there that developed what is now called expanded newborn screening, with funding obtained from the state of North Carolina. He moved to Melbourne, Australia to direct the Victorian Clinical Genetic Services in 1998, returned to the US (Johns Hopkins) in 2003, and moved to Arkansas in 2005, where he succeeded Dr. Gibson. He has served on newborn screening advisory committees in five states. He has been interested in autism for many years, particularly the children who are responsive to diet changes, as they are similar in this way to children with defined inborn metabolic errors. There are also many children with these inborn errors who have features of autism. In Arkansas he helped found the Autism Specialty Clinic, devoted to metabolic, intestinal, and neuro-

logic aspects of autism, where he worked with Dr. Richard Frye (neurology). Investigations in that clinic included studying the mitochondrial dysfunction and oxidative stress that many of these children have. Dr. Kahler and Dr. Frye also had a clinic dedicated to mitochondrial dysfunction. They worked closely with Jill James, PhD, on biochemical aspects of autism, partic-ularly involving vitamin B12, folate, and glutathione. Dr. Kahler has written many articles and book chapters on genetic and metabolic disorders, and newborn screening. He has served as a medical advisor to many support organizations, including the FOD and OAA groups.

STEPHEN G. KAHLER, MDProfessor, Division of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical SciencesOffice Phone : (501) 364-2966 | (501) 364-2967 (direct)Fax: (501) 364-1564Mail: Arkansas Children’s HospitalSlot 512-221 Children’s Way | Little Rock, AR [email protected]

Mark Korson, MDDr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric resi-dency nearby at Toronto’s Hospital for Sick Children. After

completing a fellowship in genetics at Boston’s Children’s Hospital (1990), he became director of the Metabolism Clinic at Children’s until 2000. He then transferred to Tufts Medical Center where he was director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.

Dr. Korson promotes an educational approach to address the growing crisis in metabolic health care due to the short-age of available physicians to treat this patient community. In 2007, Dr. Korson co-founded the North American Meta-bolic Academy, an annual one-week intensive course about metabolic disease for genetic trainees; to date, more than half of all American genetic trainees have enrolled in this course. Between 2007 and 2011, Dr. Korson founded and di-rected the Metabolic Outreach Service, based at Tufts Med-ical Center, for which he traveled on a regular basis to five

teaching hospitals in the northeastern US without an on-site metabolic service. In 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education (GMCE), a comprehensive initiative for improving the care of children and adults with metabolic disease. In October 2017, Dr. Korson joined VMP Genetics in Atlanta to promote telehealth metabolic consult-ing, assisting physicians in the care of their metabolic patients. He continues to develop innovative resources to help educate specialists and their trainees so they can participate more in the diagnosis and management of metabolic disease.

MARK KORSON, MDVMP Genetics, LLC Director of Physician SupportDirector of Education 5579 Chamblee Dunwoody Road | Suite 110Atlanta, GA 30338 Phone - 404-793-7800 ext 201 | Fax - 866-744-5665 [email protected] www.vmpgenetics.com

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D. Holmes Morton, MDI worked as a general pediatrician at the Clinic for Special Children from 1989 to 2016. I was the cofounder, with my wife Caroline, of the Clinic for Special Children in Strasburg Pennsylvania. The Clinic is a non-profit medical center that provides care for children with complex medical problems caused by inherited predispositions to disease. The Clinic for Special Children is located on an Amish farm near Strasburg in Lancaster County Pennsylvania. Although it remains a local pediatric medical center, the Clinic has become recognized in-ternationally for innovative studies in the diagnosis and treat-ment of genetic disorders, as well as for the discovery of the genetic basis of problems within the Amish and Mennonite populations such as mental retardation, autism, seizures, ce-rebral palsy, dystonia, , deafness, bleeding disorders, strokes, immune deficiencies, and unexpected deaths.

During my fellowship years at Children’s of Philadelphia, 1986-1988, 6 physicians who specialized in Biochemical Genetics fol-lowed 150 patients. CHOP’s Division of Metabolism followed 10 Mennonite children with MSUD but no other founder-dis-orders from the Amish & Mennonite populations of Lancaster County, which was only 40 miles west of Philadelphia. Victor McKusick had started his studies of the Amish in 1963 & pub-lished The Medical Genetic Conditions of the Amish in 1978. Regardless, the first Amish patient I saw as a fellow in Biochem-ical Genetics was a 4-year-old boy with glutaric aciduria type 1, June 19, 1988. Today pediatricians at the Clinic for Special Chil-dren care for over 2000 patients from these populations with more than 200 different recessive disorders. Edwin Naylor’s Expanded Newborn Screening Program using MS/MS started in Pennsylvania in 1993-94. Today we follow 433 patients from the Plain Communities that were diagnosed because of ex-

panded Newborn Screening. The improved outcomes for patients with biochemical genetic problems reported in the publications below have depended upon expanded newborn screening and follow-up in the Clinic for Special Children as a Medical Home.

My academic work as a pediatrician during a MacArthur Fel-lowship 2007-2011 included a series of lectures an essays about Genomic Medicine within small populations and ultimately led to the Founding of The Central Pennsylvania Clinic for Special Children & Adults, a Clinic in a remote area of Pennsylvania that serves Amish & Mennonite populations who have inher-ited disorders. The business plan and building design are to serve as models for establishing similar Clinics in Plain popu-lations in rural farming communities with a high-prevalence of selected inherited disorders and poor access to medical and dental care. Clinics modeled after the Clinic for Special Children are in operation in Middlefield Ohio, Holmes County, Topeka Indiana, La Farge Wisconsin, and plans are developing, based upon the Central PA Clinic model, to establish a Clinic for Special Needs Children and Adults in Central Kentucky.

D. HOLMES MORTON MDFounding Pediatrician Central Pennsylvania Clinic A Medical Home for Special Children & AdultsPO Box 5806 4527 East Main Street Suite E Belleville PA 17004 Founding Pediatrician, Clinic for Special ChildrenPO Box 128, 535 Bunker Hill RoadStrasburg PA 17579

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CONFERENCE SPEAKERSJohn Reardon, PhD

John E. Reardon is the Head of Research and Development for HemoShear Therapeutics. Prior to joining HemoShear in 2016, Dr. Reardon was the Chief Scientific Officer at Cardioxyl Pharmaceuticals, Inc. Prior to joining Cardioxyl in March 2009, Dr. Reardon was Executive Vice President and Chief Scientific Officer at Integrated Oncology Solutions, Inc. from 2007 – 2009. Dr Reardon spent 19 years at GlaxoSmithKline PLC and its predecessor companies where he held a variety of leader-ship positions. As Senior Vice President of Discovery Research Biology at GlaxoSmithKline he oversaw the biological science supporting lead discovery activities across all the therapeutic

areas in the international GSK R&D organization. Dr. Reardon received a B.A. from Willamette University in Salem, Oregon and a Ph.D. degree in Chemistry from The Ohio State Univer-sity in Columbus, Ohio. He was an NIH post-doctoral fellow in the laboratory of Dr. Robert Abeles at Brandeis University before joining the pharmaceutical industry.

JOHN REARDON, PHDHead of Research & DevelopmentHemoShear Therapeutics LLCOffice +1.434.872.0196 | Mobile +1.919.593.0144www.hemoshear.com

Piero Rinaldo, MD, PhDDr. Piero Rinaldo was born in Venice, Italy, and received his medical and research training at the University of Padova in Italy and Yale University. Since 1998 he serves as co-director of the Biochemical Genetics Laboratory in the Department of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester, MN. Dr. Rinaldo also holds joint appointments in the Department of Pediatrics & Adolescent Medicine and in the Department of Clinical Genomics. His clinical interests in-clude method development by tandem mass spectrometry, laboratory diagnosis of inborn errors of metabolism, newborn screening, metabolic disorders misdiagnosed either as child abuse or sudden and unexpected death, and development of multivariate pattern recognition software for the interpreta-tion of complex metabolic profiles. He is the recipient of the

2013 Robert Guthrie Award by the International Society for Neonatal Screening, of the 2015 March of Dimes/Colonel Har-land Sanders Lifetime Achievement Award in Genetics, and of the 2017 American Association for Clinical Chemistry (AACC) Pediatric and Maternal Fetal Division Achievement Award.

PIERO RINALDO, MD, PHDMayo Clinic200 First Street SWRochester, MN 55905Phone: (507) 284-5859 | Fax: (507) 266-2888 [email protected]

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Oleg Shchelochkov, MDDr. Shchelochkov received his medical degree from Tashkent Pediatric Medical Institute, completed Pediatric residency at the University of Iowa, Clinical Genetics Fellowship and Medi-cal Biochemical Fellowship at Baylor College of Medicine (Houston, TX). Prior to joining NIH as a Staff Clinician, Dr. Shchelochkov was an Assistant Professor at the University of Iowa Hospitals and Clinics. Dr Shchelochkov conducts a natu-ral history of organic acidemias and works on developing new treatments for patients with metabolic disorders.

OLEG SHCHELOCHKOV, M.D.Medical Genomics and Metabolic Genetics BranchNational Human Genome Research Institute National Institutes of Health10 Center Drive, Bldg 10, Room 7N248Bethesda, MD, 20814Phone: (301) 435-2944 Fax: (301) 402-9056

Kathy StagniKathy Stagni is the mother of a 29-year-old daughter diag-nosed at 4 days of age with Propionic Acidemia, an inborn error of metabolism. From that moment, she made it her mis-sion to advocate for her daughter as well as others affected by similar life-threatening disorders. Twenty-one years ago, Kathy assumed leadership of the Organic Acidemia Association (OAA) as its Executive Director. The OAA is a 501c3 non-profit volunteer parent and professional support group that binds together thousands of people affected with metabolic disor-ders through its social media presence, printed newsletters, research fund-raising, expanded newborn screening advocacy, and international conferences held every two years. Kathy was appointed to the Minnesota Department of Health, Newborn Screening Advisory Committee in 1999 as parent advocate

and currently holds the position of Co-Chair. Kathy testified to the Minnesota Legislature in March 2003 which later ap-proved expanded newborn screening for inherited disorders - including many of those represented by the OAA. In addition to her extensive volunteer work, Kathy has spent her profes-sional career working primarily in senior administrative roles in Human Resources for United Healthcare, UCare, and Fairview Health Services. She is presently employed with Cargill.

KATHY STAGNIOrganic Acidemia Association, Executive [email protected]

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CONFERENCE SPEAKERSCharles P. Venditti MD, PhD

Dr. Venditti is a Senior Investigator in the National Human Genome Research Institute and the Director of the Organic Acid Research Section at the National Institutes of Health in Bethesda, MD. He graduated from MIT then attended Penn State University on an MD, PhD scholarship. After medical school graduation, Dr Venditti completed a pediatrics residen-cy at Massachusetts General Hospital/Harvard Medical School then a combined clinical and biochemical genetics fellowship at the Children’s Hospital of Philadelphia/University of Penn-sylvania School of Medicine. Immediately after fellowship, Dr Venditti joined the faculty of the NHGRI. With an outstanding group of clinical and laboratory colleagues, he has developed a translational research program to study the natural history and clinical phenotype(s) of the hereditary methylmalonic aci-demias (MMA), cobalamin metabolic disorders, and propionic acidemia (PA), grave conditions that mainly affect infants and children. The clinical research is conducted in parallel with laboratory investigations that are focused on the genetics, genomics and pathophysiology of organic acid metabolism in model organisms, including zebrafish and mice. His group is also developing gene, cell and small molecules therapies to treat MMA and PA.

Dr Venditti has received a number of national and interna-tional accolades, including a Presidential Early Career Award for Scientists and Engineers (PECASE), the US Government’s highest honor for early-career scientists. He has been recog-

nized as a Top Young Investigator by Genome Technology Magazine and as an Outstanding New Investigator by the American Society of Gene and Cell Therapy. In 2012, he was elected into the American Society of Clinical Investigation, an honor society of physician-scientists from all medical spe-cialties who are selected by their peers for their outstanding records of scholarly achievement in biomedical research. Dr Venditti serves on the medical advisory board of the Organic Acid Association (OAA), the Scientific Review Committee for the NHGRI Institutional Review Board, the NHGRI Animal Care and User Committee (ACUC), the Board of Tutors for the NIH Medical Research Scholars Program, the editorial boards of Molecular Therapy: Methods and Clinical Development and The Journal of Clinical Investigation Impact, and as an ad hoc reviewer for numerous local, national and international grant-ing agencies. He has authored more than 100 peer reviewed research articles and reviews, 20 textbook chapters and is the principle inventor of 10 US patents.

CHARLES P. VENDITTI, M.D., PH.D.Genetics and Molecular Biology BranchNational Human Genome Research Institute – NIH 49 Convent Drive, Building 49, Room 4A18 Bethesda, Maryland 20892-1851Office: 301-496-6213 | FAX: 301-402-4929 [email protected] www.genome.gov/27529399


Jerry Vockley, MD, PhDDr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Penn-sylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colo-rado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medi-cal Genetics in the Mayo Clinic School of Medicine.

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for dis-orders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 200 peer reviewed scholarly ar-ticles, is the principle investigator on four NIH grants and a co-investigator on 7 others. Dr. Vockley has served on numer-ous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children

where he was chair of the technology committee. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair of the Pennsylvania State Newborn Screening Advisory Com-mittee and the American College of Medical Genetics Thera-peutics Committee. He is a past president of the International Organizing Committee for the International Congress on In-born Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.

JERRY VOCKLEY, MD, PHDUniversity of Pittsburgh Cleveland Family Professor of Pediatric ResearchProfessor of Human Genetics Children’s Hospital of Pittsburgh Chief of Medical GeneticsDirector of the Center for Rare Disease Therapy 4401 Penn Avenue Pittsburgh, PA 15224Office: (412) 692-7746 | Fax: (412) 692-7816 [email protected]

16

Toward Potential Treatment for OA DiseasesWe all greatly desire new treatments to improve

the quality of life for people with organic acidemias. In order for progress to be made, scientists need to better understand how these rare diseases work and identify ways to reduce the build-up of toxic acids that cause so much dam-age. HemoShear Therapeutics is a biotechnology company that is generating important insights that may lead to new therapies for propionic acidemia (PA), methyl-malonic acidemia (MMA) and maple syrup urine disease (MSUD).

MODELING HUMAN DISEASE TO DISCOVER THERAPIES: HemoShear, in collaboration with the Children’s National Rare Disease Institute (CN-RDI), has recreated models of organic aci-demias in the laboratory by using tissue from pa-tients who have donated their livers after transplant. The company’s unique technology is able to mimic human diseases to enable their scientists to study errors in the metabolic process and gain deep understanding of the course of diseases.

“To successfully meet the challenge of developing treatments for complex diseases like PA and MMA, we are advancing be-yond animal research and static cells in a petri dish,” said Brian Wamhoff, PhD, Head of Innovation at HemoShear. “Our inno-vative platform combines the power of dynamic human biol-ogy and computational science to generate insights that may lead to new therapies to improve the lives of these children.”

Through these insights, HemoShear is now in the early stages of drug discovery -- designing and assessing drugs to bypass errors in metabolism and lower the levels of toxic substances that build up throughout the body. They began their drug dis-covery program in 2016 and are progressing rapidly to identify compounds that may be effective at reducing the symptoms associated with PA, MMA and related diseases.

“HemoShear has already advanced our understanding and treatment of PA, MMA and MSUD,” said Marshall Summar, MD, director of the CN-RDI. “These diseases strike right at basic human metabolic function, leading to a cascade of complica-

tions from birth through the entire lifespan. If HemoShear can uncover the fundamental

functioning of metabolism that is so important in these diseases, then we

will be far down the path toward developing targeted treatments.”

STEPS TO THE CLINIC: Once He-moShear has identified a promis-ing drug candidate through rigor-

ous assessment with their disease model in the laboratory, followed

by additional nonclinical testing, then they may apply for permission to test this

compound in clinical trials. Clinical trials assess the safety and effectiveness of drugs in patients who volun-teer to be participants at medical research institutions. This process can take a few years as clinical trials with experimental drugs must demonstrate substantial evidence of safety and efficacy before being considered for approval by the FDA for treating patients.

MEET THE COMPANY: Members of the HemoShear research team will attend our July meeting, where they will lead a workshop on the drug discovery and clinical trial process. This will give our families the opportunity to learn more from them directly and ask questions about their progress. You can learn more by visiting the company’s website at www.hemoshear.com.

We are advancing beyond

animal research and static cells in

a petri dish.

HemoShear Therapeutics Making Progress

international metabolic conference · ogy from dartmouth college in 1991 working on the role of...

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