Leadership - Smith-Lemli-Opitz Foundation

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Our Leadership

The Smith-Lemli-Opitz Foundation works worldwide to improve the quality of life for people with Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz Foundation Leadership

Board of Directors

The Smith-Lemli-Opitz Foundation is governed by an all-volunteer Board of Directors made up of parents of individuals with Smith-Lemli-Opitz syndrome.
Our Board members come from three different continents and bring their varied life experiences and skills to the work of realizing the mission of the Smith-Lemli-Opitz Foundation.

Click on the profile photo or name to read more about each leader

Gretchen Noah

President, Executive Director, and Treasurer

Fargo, North Dakota, USA
SMITH-LEMLI-OPITZ FOUNDATION
Staff Member

Gretchen Noah

President, Executive Director, and Treasurer

Gretchen Noah grew up in Bloomington, MN, and graduated with a BA in business-accounting from Concordia College, Moorhead, MN. She went on to obtain her Master of Arts in nonprofit leadership from the University of Jamestown.

As a CPA, Gretchen worked for the accounting firms of Ernst & Young (Minneapolis, MN) and Charles Bailly & Co. (now Eide Bailly) in Fargo, ND, where she specialized in auditing for small businesses, non-profit organizations, and healthcare institutions. She opened and operated three small successful businesses before going to work for her college alma mater in 2009, where works in advancement where she specializes in gift accounting, donor relations, gift agreements, and stewardship initiatives.

Gretchen and her husband, Mark, reside in Fargo, ND, with their five adult children. Their son, Markie, was born in 2003 and wasn’t diagnosed with Smith-Lemli-Opitz syndrome until 2006, after being misdiagnosed by medical community, including the Mayo Clinic.

After his misdiagnosis, it would take 18 more months to find the correct diagnosis. Within months, their family hosted their first charity fundraiser in the summer of 2006 to benefit the Smith-Lemli-Opitz Foundation and have been raising money every year since.

Since 2011, Gretchen has served the Smith-Lemli-Opitz Foundation as its President, Treasurer, and a member of the Board of Directors. In 2022, Gretchen was hired as the foundation’s first Executive Director.

Furthering the mission of the foundation and overseeing the growth of the organization these many years has been a true joy in her life.

Phone:+1 (701) 367-1976
Email:no**@Sm*************.org

Kate Duren

Vice Pres, Director of Communications & Family Support

Davis, California, USA
SMITH-LEMLI-OPITZ FOUNDATION
Staff Member

Kate Duren

Vice Pres, Director of Communications & Family Support

Kate Duren has served as the Director of Communications for the Smith-Lemli-Opitz Foundation since 2012.
As the point of first contact for many parents with the SLOF, Kate assists parents in their search for a diagnosis for their children, helps orient newly diagnosed families, and moderates the Facebook parent support group.

Trained in counseling psychology, Kate spent the early part of her career teaching in an autism classroom in Chicago; working with children with disabilities in a rehabilitation institute in Pittsburgh, PA; working as a Family Worker for Head Start in Illinois; and working at Planned Parenthood of California helping women deliver healthy babies.

Certified by the Gottman Institute as a “Bringing Baby Home” Couples Educator, Kate has spent the last 20 years coaching new moms and dads as they transition to parenthood and facilitating a weekly support group, having supported over 3,000 “graduates” of the group.

Kate lives in Northern California with her husband Andy and their three children, Geneva, Truman, and Jukie, their boy who was born with SLO and who is the subject of her co-written book titled Where’s Jukie?

A vocal advocate for self-care, Kate spends time reading novels and books about parenting, dining with close friends, seeing all the best new movies, walking the world-famous UC Davis Arboretum, and caring for her French bulldog puppy, Margot Blue.

Email:kd****@Sm*************.org

Kelly Noah

Secretary

Fargo, North Dakota, USA
SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Kelly Noah

Secretary

Kelly Noah graduated from Concordia College in Moorhead, MN, in May 2021, double majoring in biology and chemistry with hopes of pursuing medicine in the future. She currently works as a patient care technician in pediatric oncology.

Kelly’s younger brother, Markie, was diagnosed with SLOS in 2006. Since then, Kelly has helped annually fundraise with her family for the SLO Foundation, raising over $350,000.00.

Kelly has served the SLO Foundation as Secretary and a member of the Board of Directors since 2016.

In her spare time, she works with Dr. Elaine Tierney , a member of the SLOF Medical and Scientific Board, in research to better understand sterol and lipid abnormalities in individuals with autism spectrum disorder, which is frequently observed in SLOS.

Phone:+1 (701) 367-2217
Email:kn***@Sm*************.org

Kayleigh Kempster

Director of International Relations & Family Mentors

Shropshire, England
SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Kayleigh Kempster

Director of International Relations & Family Mentors

Kayleigh Kempster graduated from Glyndwr University, UK, in 2011, with a Degree in Social Work. Since this time, she has worked as a Registered Social Worker across the UK, supporting children and families in foster care.

Kayleigh lives on the border of North Wales, UK, where she lives with her partner, Nick, and daughter, Elsie. Elsie was diagnosed with Smith-Lemli-Opitz Syndrome when she was 3 months old following concerns at birth.

Having attended their first SLOS Family Conference in Bethesda, Maryland in 2019 and feeling grateful for all of the support the family has received, Kayleigh hopes to support other families and increase awareness of Smith-Lemli-Opitz Syndrome globally.

Kayleigh became a Board Member in 2020.

Email:ka*****************@gm***.com

Carola Gutierrez

Director of Hispanic Family Support

Santa Cruz de la Sierra, Bolivia
SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Carola Gutierrez

Director of Hispanic Family Support

Carola Gutierrez Viruez lives in Santa Cruz, Bolivia with her family of 5. Mario (dad), Belen (daughter, age 26), Joaquin (son, age 9) and Antonio (son, age 8).

Antonio, her youngest son, received his SLOS diagnosis at 3 months old in Santiago-Chile. Her family needed to cross border searching for the diagnosis.

The Galarza Gutierrez family attended the last two SLOS Family Conferences (held in 2017 and 2019).

As the only family in their country with the SLOS diagnosis, they received permanent support through the Smith-Lemli-Opitz Syndrome Foundation Parent Group . Now, as a Board Member, Carola expects to help other families, especially from Latin America.

Email:gu*******@gm***.com

Michael Cohen, PhD

Director of Research

Woodbridge, Ontario, Canada
SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Michael Cohen, Board Member of Smith-Lemli-Opitz Foundation

Michael Cohen, PhD

Director of Research

Dr. Michael Cohen is an immunology and infectious disease research scientist living in Toronto, Canada.

He and his wife, Melissa, welcomed their first born, Ethan, to the world in February 2018. Sadly, they lost their son to SLO at only two months of age in April 2018. More recently, they welcomed their daughter, Emma (non-SLOS). She will grow up knowing all about her big brother.

Having a passion for science, Michael has joined the Board of Directors as a liaison to the Medical Advisory Board and hopes to help keep families of the foundation informed on new insights into SLOS research.

Email:mc******@gm***.com

Amy DiNunzio

Board Member

Lebanon, Pennsylvania, USA
SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Amy DiNunzio

Board Member

Amy DiNunzio is a proofreader and editor living with her husband, Andy, in Central Pennsylvania. They are the parents of Angela, who was diagnosed with Smith-Lemli-Opitz at birth and lived for 14 years and 10 months until May 2018.

As a family, Amy, Andy, and Angela attended the SLOS family conferences in Baltimore, Boston, Pittsburgh and Cincinnati, and Amy and Andy attended the conference in Bethesda, Maryland, in 2019.

She has always appreciated the friendship and support of families that she met at the conferences and on Facebook. She is looking forward to helping raise awareness of SLOS and the Foundation and helping with future conferences. Amy has a bachelor’s degree in journalism from Messiah College.

She enjoys reading, singing, horseback riding, and spending time with family and friends. She also is a volunteer and board member with a therapeutic horseback riding program that Angela participated in.

Amy became a board member of the Foundation in 2021

Email:am**********@gm***.com

Mili Mazziotti Irigoyen

Director of Education & Conferences

Suffolk, England
SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Mili Mazziotti Irigoyen

Director of Education & Conferences

Mili Mazziotti Irigoyen graduated from Vatel International School with a master’s degree in International Hotel Management in 2013. She has traveled around the world working in hospitality and events.

Mili was born in Buenos Aires, Argentina but now lives in Ipswich, United Kingdom with her husband Theo and her daughter Amélie. During her pregnancy, doctors were concerned about Amélie’s size and development. Three months after she was born, she was diagnosed with Smith-Lemli-Opitz Syndrome.

Mili and her family attended the 2022 Seattle conference and, since then, have been in close contact with the Foundation about helping to organize future conferences. The Foundation has given Mili access to other families going through the same experiences as her family or have gone down similar paths. Meeting other SLOS families and that feeling of belonging is what makes the Foundation so special for her.

Email:mi**@sm*************.org

SLO Foundation Business Consultants:

Website Developer and Design ▸ Dianna Hansen

Move Me Media & Message, Detroit Lakes, Minnesota, USA

Foundation Business Advisor ▸ Andy Jones, PhD

Eager Mondays, Davis, California, USA

Marketing Advisor ▸ Caleb Fugleberg

Fugleberg Creative, Moorhead, Minnesota, USA

SLO Foundation Medical Consultants:

Behavioral Psychologist ▸ Julia O'Connor, PhD

Kennedy Krieger Institute, Baltimore, Maryland, USA

email: oc*****@ke************.org

Smith-Lemli-Opitz Foundation Leadership

Medical & Scientific Advisory Board

The Smith-Lemli-Opitz Foundation is fortunate to be assisted in its work by a brilliant and generous group of medical experts.
These physicians and therapists have decades of experience in research and treatment of those individuals with Smith-Lemli-Opitz syndrome.
They give of their time and talents to improve the lives of our members.

click on each profile photo or name to read more about each leader

Forbes "Denny" Porter, MD, PhD

Medical & Scientific Advisory Board Member

SENIOR INVESTIGATOR AND ASSOCIATE SCIENTIFIC DIRECTOR FOR TRANSLATIONAL RESEARCH
EUNICE KENNEDY SHRIVER
NATIONAL INSTITUTE OF CHILD HEALTH AND
HUMAN DEVELOPMENT
NATIONAL INSTITUTES OF HEALTH
BETHESDA, MARYLAND, USA

Dr. Forbes Denny Porter, Smith-Lemli-Opitz Foundation Medical and Scientific Advisory Board Member

Forbes "Denny" Porter, MD, PhD

Medical & Scientific Advisory Board Member

Dr. Forbes D. Porter is a Senior Investigator in the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD, NIH). He is also the Director of the NICHD Molecular Genomics Core and an Associate Scientific Director for Translational Science. He previously served as a Program Head and was the Clinical Director for NICHD from 2010 until 2022. Dr. Porter earned his MD and PhD from Washington University in St. Louis and subsequently trained in Pediatrics and Clinical Genetics at St. Louis Children’s Hospital. Dr. Porter formed his own basic and clinical research groups at the NIH starting in 1996.

His research has been primarily focused on disorders of cholesterol homeostasis, specifically Smith-Lemli-Opitz syndrome (SLOS) and Niemann-Pick disease, type C (NPC). More recently his research group has also been involved in studies of CLN3 and creatine transport deficiency.

His group’s goal is to combine both basic and clinical science to understand the pathological processes contributing to these disorders and to develop and test therapeutic interventions.

Phone:+1 (301) 435-4432
Email:fd******@ma**.gov

Robert D. Steiner, MD, FAAP, FACMG

Medical & Scientific Advisory Board Member

CLINICAL PROFESSOR
UNIVERSITY OF WISCONSIN MADISON
MADISON, WISCONSIN, USA

MEDICAL GENETICIST
MARSHFIELD MEDICAL CENTER, GENETICS CLINIC
MARSHFIELD, WISCONSIN, USA

Dr. Robert Steiner, Smith-Lemli-Opitz Foundation Medical and Scientific Advisory Board Member

Robert D. Steiner, MD, FAAP, FACMG

Medical & Scientific Advisory Board Member

Robert D. Steiner, MD, Editor in Chief for Genetics in Medicine, is a Professor (Clinical) of Pediatrics at the University of Wisconsin School of Medicine and Public Health. He is also Chief Medical Officer for Prevention Genetics and Medical Consultant for the Newborn Screening Program, Wisconsin Department of Health Services.

Steiner has been caring for children with Smith Lemli Opitz Syndrome (SLOS) and performing research on the condition for more than 20 years.

After obtaining his MD from the University of Wisconsin, he completed a pediatric residency at The University of Cincinnati/Children’s Hospital and Medical Center followed by training in medical genetics at The University of Washington/Seattle Children’s Hospital. He is board certified in Pediatrics, Clinical Genetics, and Clinical Biochemical Genetics.

Steiner most recently served as Chief Medical Officer at Acer Therapeutics. Prior to joining Acer, Steiner was Executive Director, Marshfield Clinic Research Foundation, Chief Science Officer Marshfield Clinic, and Executive Associate Director, Institute for Clinical and Translational Research (ICTR, CTSA grant), University of Wisconsin.

For most of his career, he was a faculty member at Oregon Health & Science University (OHSU), ultimately serving as Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular & Medical Genetics, and (tenured) Vice Chair for Research in Pediatrics at Doernbecher Children’s Hospital, (OHSU) in Portland, Oregon, USA.

Dr. Steiner is an active clinician in the field of medical genetics, with specific interests in Smith-Lemli-Opitz Syndrome (SLOS), inherited metabolic diseases, metabolic bone diseases, genetic/biochemical/genomic testing, and newborn screening. In addition, he is an accomplished researcher, having served as the Principal Investigator for more than a dozen clinical trials and clinical research studies on SLOS, Osteogenesis Imperfecta, Phenylketonuria, Lysosomal Storage Diseases, and others.

Steiner has authored or co-authored over 160 peer-reviewed original research articles as well as more than 80 reviews, book chapters, and letters on genetic diseases, genetic testing, SLOS, and related topics.

Dr. Steiner sees patients, including those with SLOS at the American Family Children’s Hospital, University of Wisconsin in Madison. He remains active in SLOS research, continuing as an investigator in the STAIR rare disease consortium and separately with a group in the very earliest stages of developing a possible pharmacologic therapy for SLOS.

Phone:+1 (608) 263-6420 (option 1)
Email:rd**********@gm***.com

Ellen R. Elias, MD, FAAP, FACMG

Medical & Scientific Advisory Board Member

PROFESSOR OF PEDIATRICS AND GENETICS
UNIVERSITY OF COLORADO DEPARTMENT OF PEDIATRICS
CHILDREN'S HOSPITAL COLORADO
AURORA, COLORADO, USA

MEDICAL DIRECTOR
SPECIAL CARE CLINIC
CHILDREN'S HOSPITAL COLORADO
AURORA, COLORADO, USA

Dr. Ellen Elias, Smith-Lemli-Opitz Medical and Scientific Advisory Board Member

Ellen R. Elias, MD, FAAP, FACMG

Medical & Scientific Advisory Board Member

Dr. Elias graduated from Princeton University with a degree in Chemistry, with honors. She attended New York University School of Medicine, and completed her Pediatric Residency at Johns Hopkins Hospital in Baltimore, MD. She attained her specialty training at Children’s Hospital Boston. She is boarded in Pediatrics, Clinical Genetics, and Neurodevelopmental Disabilities.

Dr. Elias is the Director of the Special Care Clinic (SCC), a unique program which cares for approximately 4800 children with medical complexity. The SCC offers a Multidisciplinary approach for these complex children, including a team of physicians, nurses, and dieticians.

Dr. Elias is also actively involved in clinical research. She was one of the initial investigators discovering the cause of Smith-Lemli-Opitz Syndrome and is the Principal Investigator of a study treating more than 30 children with this disease, with both cholesterol supplementation and antioxidant treatment. She also participates in research concerning the underlying causes of autism, medical problems associated with Down Syndrome, and just received a large grant to start a clinic for patients with Ehlers-Danlos syndrome.

Phone:+1 (720) 777-6739
Email:El*********@ch***************.org

Elaine Tierney, MD

Medical & Scientific Advisory Board Member

ASSOCIATE PROFESSOR OF PSYCHIATRY AND BEHAVIORAL SCIENCES
JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE
BALTIMORE, MARYLAND, USA

PEDIATRIC AND ADULT PSYCHIATRIST
KENNEDY KRIEGER INSTITUTE
BALTIMORE, MARYLAND, USA

Dr. Elaine Tierney, Smith-Lemli-Opitz Foundation Medical and Scientific Advisory Board Member

Elaine Tierney, MD

Medical & Scientific Advisory Board Member

Dr. Elaine Tierney is a research scientist at Kennedy Krieger Institute. She is also an associate professor of psychiatry at the Johns Hopkins University School of Medicine.

Dr. Tierney received her bachelor’s of arts from the University of Florida and her medical degree at the University of South Florida in 1989. After completing a transitional residency at Cook County Hospital in Chicago and a general psychiatry residency at Johns Hopkins Hospital, she accepted a child and adolescent psychiatry fellowship at Johns Hopkins Hospital.

She formerly served as the medical director of both Kennedy Krieger’s Neurobehavioral Unit and its Center for Autism and Related Disorders and as the director of the Department of Psychiatry. She continues to serve in the Neurobehavioral Unit.

Dr. Tierney is a pediatric and adult psychiatrist with a particular interest in autism, genetic, metabolic, and neurological disorders that cause behavioral disturbances. Dr. Tierney is a member of the American Academy of Child and Adolescent Psychiatry, the American Psychiatric Association, the Maryland Psychiatric Society, and the Maryland Regional Council of Child and Adolescent Psychiatry.

Current statistics predict one out of every 68 children is destined to develop autism spectrum disorder (ASD). ASD is an incapacitating, lifelong developmental disability that typically appears within the first three years of life. It is the result of a neurological disorder that affects the brain’s functioning.

Individuals with ASD frequently exhibit developmental delays in physical, social, and language skills, have abnormal responses to sensations, communicate unusually and have abnormal ways of relating to people, objects, and events in the environment. The condition is four times more likely in boys than girls and is sometimes associated with other disorders.

Dr. Tierney works with behavioral psychologists, neurologists, developmental pediatricians, nurses, communication specialists, educational specialists, social workers, and occupational therapists to create treatments for individuals with ASD.

Previously, her research had included the Research Units on Pediatric Psychopharmacology (RUPP) Multisite Project in autism, funded by the National Institute of Mental Health. The RUPP at Kennedy Krieger has completed double-blind, placebo-controlled studies of the use of risperidone and methylphenidate and an open-blind study of the use of guanfacine in children and adolescents with ASD.

In addition, Dr. Tierney investigates the presentation of ASD in individuals who have metabolic disorders (conditions in which chemical pathways in the body are not working correctly). These conditions include mitochondrial disorders, Smith-Lemli-Opitz syndrome (SLOS), and other sterol disorders. In 2001, Dr. Tierney and colleagues identified SLOS is associated with autism spectrum disorder. Since SLOS is known to be caused by a defect in the body’s biosynthesis of cholesterol, SLOS may provide clues to the biochemistry of other autism spectrum disorders. In addition, because children with SLOS can be treated by dietary cholesterol supplementation, their work to determine the incidence of SLOS within individuals with autism and possible other cholesterol-related autism spectrum disorders conditions may offer some new possibilities for treatment.

Dr. Tierney and colleagues published a paper in 2006 in the American Journal of Medical Genetics Part B (Neuropsychiatric Genetics). They describe a small subgroup of children with autism spectrum disorders has abnormally low cholesterol levels (hypocholesterolemia). The children’s low cholesterol levels were apparently due to a limited ability to make cholesterol. This finding, in concert with their work with SLOS, has led them to believe that cholesterol may play a role in the cause of some cases of autism spectrum disorder.

In collaboration with the National Institutes of Health (NIH) and the Autism Genetic Resource Exchange, Tierney and colleagues at Kennedy Krieger have now begun analyzing the genes of children with low cholesterol. These children’s genes are being compared to their parents’ genes to determine if there are common mutations affecting cholesterol metabolism being passed from parent to child. Cure Autism Now, Autism Speaks, and the Smith-Lemli-Opitz/RSH Foundation fund this study.

Phone:+1 (443) 923-7657
Email:ti*****@ke************.org

Jean Baptiste Roullet, PharmD, PhD

Chair of Medical & Scientific Advisory Board

PROFESSOR DEPARTMENT OF PHARMACOTHERAPY
COLLEGE OF PHARMACY & PHARMACEUTICAL SCIENCES
WASHINGTON STATE UNIVERSITY
SPOKANE, WASHINGTON, USA

Dr. Jean Baptiste Roullet, Smith-Lemli-Opitz Foundation Medical and Scientific Advisory Board Member

Jean Baptiste Roullet, PharmD, PhD

Chair of Medical & Scientific Advisory Board

Dr. Roullet is a Professor in the Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University (WSU), in Spokane, WA.

He completed his training in Pharmacy (1977) and Laboratory Medicine (1980) in France. He worked as a Clinical Chemist at the Necker-Enfants Malades University Hospital in Paris for approximately 10 years, obtained his first PhD in Biochemistry in 1982 and a second one in 1998. He moved to the United States and Oregon Health Sciences University in 1985 and to WSU 30 years later in 2015.

His research focused for many years on lipid, lipoprotein and cholesterol metabolism, in the context of cardiovascular diseases and blood pressure regulation. In 2004, he became interested in rare diseases with the study of cholesterol precursors in Sjögren-Larsson syndrome and started a collaboration with Dr. William Rizzo. He followed up with joining Dr. Robert Steiner’s group and research on Smith-Lemli-Opitz Syndrome in 2006, contributing to the start of the STAIR consortium in 2008.

Dr. Roullet was involved as Co-PI then Administrative Director of the STAIR Consortium for 10 years, and is a co-investigator in the on-going SLOS-Cholic acid study headed by Dr. Elias. He serves on the SLO/RSH Foundation Medical Advisory Board and works with other rare disease patient advocacy groups including the SSADH Association and the Sitosterolemia Foundation.

Dr. Roullet’s current research focus includes the natural history of succinic semialdehyde dehydrogenase deficiency, antiseizure drug discovery, and sleep disorders in Smith-Lemli-Opitz syndrome and other rare diseases.

Phone:+1 (509) 358-7666
Email:j.*******@ws*.edu

William Rizzo, MD

Medical & Scientific Advisory Board Member

HELEN FREYTAG CHAIR IN PEDIATRICS AND PROFESSOR (PEDIATRICS METABOLISM)
UNIVERSITY OF NEBRASKA MEDICAL CENTER
DEPARTMENT OF PEDIATRICS, DIVISION OF INHERITED METABOLIC DISEASES
OMAHA, NEBRASKA, USA

PEDIATRICIAN AND GENETICIST
NEBRASKA MEDICINE • MEDICAL CENTER
CHILDREN'S HOSPITAL AND MEDICAL CENTER
MUNROE MEYER INSTITUTE GENETICS CLINIC
OMAHA, NEBRASKA, USA

Dr. William Rizzo, Smith-Lemli-Opitz Foundation Medical and Scientific Advisory Board

William Rizzo, MD

Medical & Scientific Advisory Board Member

Dr. William Rizzo graduated from the University of Illinois College of Medicine with a pediatric residency at Johns Hopkins University and a fellowship in medical genetics at the NIH. He is board certified in genetics, biochemical genetics and pediatrics.

He currently works in Omaha, NE, as a pediatrician and geneticist for the Nebraska Medicine Medical Center and Children’s Hospital and Medical Center, where he treats patients with various inherited metabolic diseases, including SLOS.

Dr. Rizzo is also the Helen Freytag Chair in Pediatrics & Professor of Pediatrics Metabolism at the University of Nebraska Medical Center. There, he is a professor of pediatrics and medical genetics in the Division of Inherited Metabolic Diseases in Omaha, Nebraska.

Phone:+1 (402) 559-2560
Email:wr****@un**.edu

Kevin Francis, PhD

Medical & Scientific Advisory Board Member

ASSISTANT SCIENTIST
CELLULAR THERAPIES AND STEM CELL BIOLOGY GROUP
SANFORD RESEARCH
SIOUX FALLS, SOUTH DAKOTA, USA

Assistant Professor
DEPARTMENT OF PEDIATRICS
SANFORD SCHOOL OF MEDICINE
UNIVERSITY OF SOUTH DAKOTA
SIOUX FALLS, SOUTH DAKOTA, USA

Dr. Kevin Francis, Smith-Lemli-Opitz Foundation Medical and Scientific Advisory Board Member

Kevin Francis, PhD

Medical & Scientific Advisory Board Member

Dr. Kevin Francis specializes in the study of rare diseases of the nervous system, particularly those affecting pediatric patients.

He has received extensive training in stem cell biology, neurodevelopment, neurological function, genetics and lipid biology during his graduate studies at Medical University of South Carolina and postdoctoral training at the National Institutes of Health. Dr. Francis’ research on rare diseases and lipid signaling has been published in journals and recognized for numerous awards.

He is an assistant professor with the Department of Pediatrics Sanford School of Medicine at the University of South Dakota and an adjunct assistant professor in the Department of Chemistry and Biochemistry at South Dakota State University.

Through the use of novel physiologically relevant human-induced pluripotent stem cell models and transgenic mouse models, Dr. Kevin Francis’ laboratory is focused on defining the biological mechanisms underlying disorders of neurodevelopment using human induced pluripotent stem cells derived from rare patient populations, such as Smith-Lemli-Opitz Syndrome.

Phone:+1 (605) 312-6422
Email:ke***********@sa***********.org

Samar N. Rahhal, MD

Medical & Scientific Advisory Board Member

STAFF CLINICIAN PHYSICIAN
PEDIATRIC ENDROCRINOLOGIST
EUNICE KENNEDY SHRIVER
NATIONAL INSTITUTE OF CHILD HEALTH AND
HUMAN DEVELOPMENT
NATIONAL INSTITUTES OF HEALTH
BETHESDA, MARYLAND, USA

Samar N. Rahhal, MD

Medical & Scientific Advisory Board Member

Dr. Samar Rahhal is a pediatric endocrinologist affiliated with National Institutes of Health in Bethesda, Maryland. She received her medical degree from the American University of Beirut Faculty of Medicine and has been in practice for more than 20 years.

Dr. Rahhal is currently working as a staff clinician physician at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and is the principal investigator for the natural history study for patients with Smith-Lemli-Opitz syndrome (Study #000487-CH Natural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism).

Phone:+1 (202) 468-1716
Email:sa**********@ni*.gov

Malgorzata J.M. Nowaczyk, MD, MFA, FRCPC, FCCMG, FACMG

Medical & Scientific Advisory Board Member

PROFESSOR
MOLECULAR MEDICINE AND PATHOLOGY AND PEDIATRICS
MCMASTER UNIVERSITY
HAMILTON, ONTARIO, CANADA

PEDIATRICIAN AND CLINICAL GENETICIST
MCMASTER UNIVERSITY
HAMILTON, ONTARIO, CANADA

Dr. Margaret Nowaczyk, Smith-Lemli-Opitz Foundation Medical and Scientific Advisory Board Member

Malgorzata J.M. Nowaczyk, MD, MFA, FRCPC, FCCMG, FACMG

Medical & Scientific Advisory Board Member

Dr. Nowaczyk teaches undergraduate students in the Bachelor of Health Sciences Program, medical students, and post-graduate trainees in the pathology, paediatrics and obstetrics-gynaecology residency programs and CCMG administered clinical genetics fellows.

The major focus of Dr. Nowaczyk’s research is genetic disorders both at the basic sciences and clinical level. She has published many articles on Smith-Lemli-Opitz syndrome.

She has also participated in paradigm-shifting gene discovery of Cornelia de Lange syndrome, Floating-Harbor syndrome and encephalocranio-cutaneous lipomatosis.

Nowaczyk spends most of her professional time in the area of clinical genetics providing inpatient consultations to pediatric wards and the neonatal intensive care units, and of prenatal genetics where she provides consultations for both known and emergent genetic conditions. She was an instrumental part of the study team that published Growth Charts for Individuals with Smith-Lemli-Opitz Syndrome, growth charts for widespread use in the management and study of individuals with SLOS which are used by so many of our families and the pediatricians who care for our children.

Phone:+1 (905) 521-2100 ext. 73042

Simona Bianconi, MD

Medical & Scientific Advisory Board Member

PEDIATRICS AND GENETICS
KAISER PERMANENTE
SAN DIEGO, CALIFORNIA, USA

Dr. Simona Bianconi, Smith-Lemli-Opitz Foundation Medical Advisory Board Member

Simona Bianconi, MD

Medical & Scientific Advisory Board Member

Dr. Simona Bianconi obtained her medical degree at the University of Vienna in 2003, completed her pediatric residency in 2006 at New York- Presbyterian Brooklyn Methodist Hospital, and attained a fellowship in clinical genetics in 2011 at the National Genome Research Institute.
Until 2019, she was an assistant research physician at the National Institutes of Health, Eunice Kennedy Shriver Institute for Child Health and Development. This NIH Clinical Center evaluates patients with a number of rare diseases including Smith-Lemli-Opitz Syndrome.
Dr. Biaconi currently resides in San Diego, CA, where she works as a pediatrician and geneticist.

Phone:+1 (202) 352-6278
Email:dr*********@ic****.com

Christopher Wassif, PhD, MS

Medical & Scientific Advisory Board Member

SPECIAL VOLUNTEER
EUNICE KENNEDY SHRIVER
NATIONAL INSTITUTE OF CHILD HEALTH AND
HUMAN DEVELOPMENT
NATIONAL INSTITUTES OF HEALTH
SECTION ON MOLECULAR DYSMORPHOLOGY
BETHESDA, MARYLAND, USA

DIRECTOR, MOLECULAR ENGINEERING & ANTIBODY TECHNOLOGIES
ASTRAZENECA

Dr. Christopher Wassif, Smith-Lemli-Opitz Foundation Medical and Scientific Advisory Board Member

Christopher Wassif, PhD, MS

Medical & Scientific Advisory Board Member

Dr. Christopher Wassif received his undergraduate degree in biochemistry and molecular biology from the University of Maryland Baltimore County and his doctorate of philosophy in biomedical sciences and pharmacology from the University of Oxford.

Dr. Christopher Wassif is a Special Volunteer at the National Institute of Child Health and Human Development working in Dr. Denny Porter’s lab at the National Institutes of Health in Bethesda, MD, where they are studying the molecular, biochemical, and cellular processes that underlie genetic disorders resulting from impaired cholesterol homeostasis.

The disorders include malformation/cognitive impairment syndromes resulting from inborn errors of cholesterol synthesis and neurodegenerative disorders resulting from impaired intracellular cholesterol and lipid transport. Human malformation syndromes attributable to inborn errors of cholesterol synthesis include Smith-Lemli-Opitz syndrome (SLOS).

The team is conducting a longitudinal Natural History study for patients with Smith-Lemli-Opitz Syndrome and have enrolled and evaluated over 100 patients.

Christopher is also the Director of Molecular Engineering & Antibody Technologies for AstraZeneca.

Email:ch*********@gm***.com

Dorothea Haas, MD

Medical & Scientific Advisory Board Member

SENIOR CONSULTANT IN PEDIATRIC METABOLIC MEDICINE
HEAD PHYSICIAN OF THE METABOLIC LABORATORY
DIETMAR-HOPP METABOLIC CENTER
HEIDELBERG UNIVERSITY HOSPITAL
CENTER FOR CHILDHOOD AND ADOLESCENT MEDICINE
HEIDELBERG, GERMANY

Dr. Dorthea Haas, Smith-Lemli-Opitz Foundation Medical Advisory Board Member

Dorothea Haas, MD

Medical & Scientific Advisory Board Member

Dr. Dorothea Haas has been a metabolic consultant at the Division for Child Neurology and Metabolic Medicine at Heidelberg University Hospital since 2004. She is a qualified pediatrician with an additional subspecialization in Pediatric Metabolic Medicine.

In 1999 she started a research project on defects of cholesterol biosynthesis and transport, initially as a fellow at Kennedy Krieger Hospital in Baltimore in Richard Kelley’s laboratory. She continued her studies in Heidelberg funded by the German Research Foundation, and habilitated in 2016 on this subject.

Dr. Haas cares for children and adults with Smith-Lemli-Opitz syndrome and other inherited metabolic diseases. She helped to build up an outpatient clinic for adults with inborn errors of metabolism, which she now directs. She is also the head physician of the Heidelberg Metabolic Laboratory.

Phone:+49 6221 56-4002
Email:Do***********@me*.de

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