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

Kate Duren

President

Davis, California, USA
SMITH-LEMLI-OPITZ FOUNDATION
Paid Staff — Family & Community Engagement

Kate Duren

President

Kate Duren has served as President of the Smith-Lemli-Opitz Foundation since 2025, after serving as the Foundation’s Director of Communications for more than a decade. For Kate, supporting families affected by SLO is both her life’s work and deeply personal.

As one of the first points of contact for many parents reaching out to the SLO Foundation, Kate helps families navigate the often overwhelming search for a diagnosis, find their footing after receiving an SLO diagnosis, and connect with other families who understand what they are going through. She also moderates the Foundation’s Facebook parent support group, where she continues to offer encouragement, information, and a listening ear to parents around the world.

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

Certified by the Gottman Institute as a “Bringing Baby Home” Couples Educator, Kate has spent the last 30 years supporting new moms and dads as they navigate the transition to parenthood. She has facilitated a weekly parent support group for decades, welcoming and coaching more than 5,000 “graduates” along the way.

Kate and her husband, Andy, live in Northern California. Their three children, Geneva, Jukie, and Truman, are now grown. Jukie was born with SLO and is the subject of Kate and Andy’s co-written book, Where’s Jukie? Raising a child with SLO has shaped Kate’s understanding of the uncertainty, fear, love, and resilience that families experience, and continues to inspire her commitment to making sure no SLO family feels alone.

A longtime advocate for self-care, Kate believes that finding moments of joy and connection is an important part of caring for ourselves and the people we love. She enjoys reading, dining with close friends, seeing the best new movies, walking the world-famous UC Davis Arboretum, and spending time with her French bulldog, Margot.

Email:kd****@*************tz.org

Amy DiNunzio

Treasurer

Lebanon, Pennsylvania, USA
SMITH-LEMLI-OPITZ FOUNDATION
Paid Staff — Compliance & Administration

Amy S. DiNunzio, Board Member of Smith-Lemli-Opitz Foundation Board Member

Amy DiNunzio

Treasurer

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**********@***il.com

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***@*************tz.org

Kayleigh Kempster

Director of International Relations & Family Mentors

SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Kayleigh Kempster

Director of International Relations & Family Mentors

Kayleigh Kempster has a Degree in Social Work. Since this time, she has worked as a Registered Social Worker supporting children and families in foster care.

Kayleigh 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*****************@***il.com

Mili Mazziotti Irigoyen

Director of Conferences and Hispanic Family Services

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

Mili Mazziotti Irigoyen

Director of Conferences and Hispanic Family Services

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**@*************tz.org

Melissa Gallagher

Board Member

Southeast Michigan
SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Melissa Gallagher

Board Member

Melissa lives in Southeast Michigan with her son, Carson, who was diagnosed with Smith-Lemli-Opitz Syndrome (SLOS) shortly after he was born in March 2005.

Since Carson’s diagnosis, Melissa has been an active part of the SLOS community. She has helped organize several fundraisers over the years to support the Foundation, and Carson’s love of motorcycles has brought together some pretty fun events. Many of his biker friends have always been happy to jump in and show their support!

Melissa has attended several SLOF Family Conferences and was also a board member during the early years of the Foundation. Along the way, she has made many friendships with other SLOS parents and families. She knows firsthand how valuable it can be to connect with others, and she is always happy to mentor and serve as a resource for families in Michigan with a child diagnosed with SLOS.

Professionally, Melissa has earned an Associate's Degree in Accounting and a Bachelor's Degree in Business Administration, and she currently works for a large customer communications management company. In her free time, Melissa enjoys running, cooking, live music, reading, and discovering new restaurants.

Email:mg**************@***oo.com

Paul Gergets

Director of Governance and Fundraising

SMITH-LEMLI-OPITZ FOUNDATION
Board of Directors

Paul Gergets

Director of Governance and Fundraising

Paul Gergets is the Director of Engineering and Innovation for an International Manufacturer of Safety, Security, and Industrial products. Paul holds a Bachelor of Science degree in Mechanical Engineering and Applied Physics from the Illinois Institute of Technology and a Masters of Business Administration with specialization in marketing.

Paul served for twelve years on the board of directors for Planting Possibilities, a regional not-for-profit organization with a mission of providing job training and job placement for adults with developmental disabilities.

Paul lives in Indiana with his wife Joyce and their two daughters, Katie and Michelle, who was diagnosed with SLO in 2003 and who is the subject of Paul’s book titled, "I Want to Survive, A Journey of Raising Lauren Our Exceptional Daughter with Smith-Lemli-Opitz Syndrome".

In his spare time, Paul enjoys spending time with his wife, daughter Katie, son-in-law Josh, daughter Michelle, and grandson Brayden. He also enjoys spending time outdoors fishing, playing and building guitars, and golfing.

Paul joined the Smith-Lemli-Opitz board of directors in 2026.

Email:pg******@*************tz.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*****@************er.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******@******ih.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**********@***il.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*********@***************do.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*****@************er.org

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****@**mc.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***********@*sd.edu

Samar N. Rahhal, MD

Medical & Scientific Advisory Board Member

PEDIATRIC ENDROCRINOLOGIST
DIVISION OF PEDIATRIC ENDOCRINOLOGY
MEDSTAR GEORGETOWN UNIVERSITY HOSPITAL
WASHINGTON, DC, USA

Samar N. Rahhal, MD

Medical & Scientific Advisory Board Member

Dr. Samar Rahhal is a pediatric endocrinologist affiliated with Medstar Georgetown University Hospital in Washington, DC, USA. She received her medical degree from the American University of Beirut Faculty of Medicine and has been in practice for more than 20 years.

Email:Sa************@*****ar.net

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*********@****ud.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***********@****************rg.de

Audrey Thurm, PhD

Medical & Scientific Advisory Board Member

FACULTY
HARVARD MEDICAL SCHOOL
DEPARTMENT OF PSYCHIATRY AND BEHAVIOR SCIENCES & TRANSLATIONAL NEUROSCIENCE CENTER
HARVARD MEDICAL SCHOOL
BOSTON, MASSACHUSETTS, USA

CHILD CLINICAL PSYCHOLOGIST
BOSTON CHILDREN'S HOSPITAL
BOSTON, MASSACHUSETTS, USA

Audrey Thurm, PhD

Medical & Scientific Advisory Board Member

Dr. Thurm is a clinical scientist and a child clinical psychologist focused on phenotyping and outcome measures for genetic conditions associated with neurodevelopmental disorders (GCAND). She is an investigator on the Rare Disease Clinical Research Network (RDCRN) Developmental Synaptopathies Consortium, as well as on several other collaborative studies focused on understanding phenotypes of specific conditions and harmonization of data across natural history and clinical trial studies. Dr. Thurm leverages her expertise in understanding developmental trajectories of neurodevelopmental disorders to study measures for use in clinical trials to establish meaningful change, in partnership with the TNC, scientific collaborators, and the patient and family community.

Dr. Thurm is board certified in clinical child and adolescent psychology from the American Board of Professional Psychology. She received her Ph.D. in clinical psychology from DePaul University after completing her year of internship at Boston Children’s Hospital/Harvard Medical School. She subsequently completed a post-doctoral fellowship at Johns Hopkins University/Kennedy Krieger Institute. Dr. Thurm spent over two decades working at the National Institute of Mental Health, serving various roles in both extramural and intramural programs, including initiating and directing a Neurodevelopmental and Behavioral Phenotyping Service that has provided her with extensive experience in conducting research regarding the assessment and diagnosis of children with rare genetic disorders.

Dr. Thurm has been involved in SLO research since 2001, when she met Medical & Scientific Advisory Board Member, Dr. Elaine Tierney. She has since collaborated with Dr. Denny Porter, also a leader on the SLOF Medical & Scientific Advisory Board.

Email:Au**********@***************rd.edu

Amy Kritzer, MD

Medical & Scientific Advisory Board Member

CLINICAL CHIEF, DIVISION OF GENETICS AND GENOMICS
BOSTON CHILDREN'S HOSPITAL
BOSTON, MASSACHUSETTS, USA

DIRECTOR, METABOLISM CLINICAL PROGRAM
BOSTON CHILDREN'S HOSPITAL
BOSTON, MASSACHUSETTS, USA

ASSISTANT PROFESSOR
HARVARD MEDICAL SCHOOL
BOSTON, MASSACHUSETTS, USA

Amy Kritzer, MD

Medical & Scientific Advisory Board Member

Amy Kritzer, MD is the Clinical Chief of the Division of Genetics and Genomics at Boston Children’s Hospital and the Director of the Metabolism Clinical Program. She graduated from the Albert Einstein College of Medicine in Bronx, NY. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. Her clinical work is focused on the care of children and adults with rare metabolic disorders. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases with a focus on improving quality of life.

Phone:+1 617-355-6394
Email:Am*********@***************rd.edu

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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

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

SLO Foundation Business Consultants:

Website Developer and Design ▸ Dianna Hansen

Foundation Business Advisor ▸ Andy Jones, PhD

Marketing Advisor ▸ Caleb Fugleberg

SLO Foundation Medical Consultants:

Behavioral Psychologist ▸ Julia O'Connor, PhD

Smith-Lemli-Opitz Foundation Leadership

Medical & Scientific Advisory Board

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Our Foundation's Culture

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