Past Seminars
Date: May 6, 2008
Topic: "What's new in PKU?"
Phenylketonuria, also known as PKU, is a genetic condition where affected individuals
are not able to break down phenylalanine, an amino acid found in virtually all
proteins in our diet. Elevated levels of phenylalanine are toxic to brain
development and function, and if untreated causes mental retardation. Based
upon newborn screening, babies diagnosed with PKU are placed on a low phenylalanine
diet to reduce the phenylalanine level in the body, and with appropriate treatment
children and adults can develop and live normally on this life-long diet plan. However,
maintaining the protein restricted diet during adolescence and adulthood remains
a challenge, but new studies show that an oral medication that stimulates the
breakdown of phenylalanine can be effective in treating PKU in a percentage of
affected individuals, and this treatment and other more novel therapies will
be discussed at this seminar.
Speakers: Dr.
William Craigen; Jocelyn Owens, R.D., L.D.; Judy Owens,
parent
Date: April 10, 2008 (Thursday)
Topic: "Recent Advances in Prader-Willi
Syndrome"
Speakers: Dr.
Arthur Beaudet; Dr. Ann Schieman
Date: March 25, 2008
Topic: "Neurofibromatosis Type I: Working
to Solve the Puzzle"
Speaker: Dr. Maria Blazo, Assistant Professor,
Department of Family & Community Medicine
Date: February 19, 2008
Topic: "A Story of Albinism"
Albinism is a group of genetic disorders causing people
to have little pigment in their eyes, hair or skin.About
1 in 17,000 people has some form of albinism and many have
vision problems. This seminar offers information on how
albinism is inherited, current treatment for vision problems
and one family’s perspective.
Speakers: Dr.
Richard Lewis, Professor, Depts. of Ophthalmology,
Medicine, Pediatrics, and Molecular and Human Genetics,
Baylor College of Medicine; Mrs. Holly Mayer, parent
and former board member of the National Organization
for Albinism and Hypopigmentation (NOAH)
Date: January 22, 2008
Topic: "Starting a family? Health
tips and screening options for you and your partner"
This seminar offers information that can help you to be as prepared as possible
before becoming pregnant. We will discuss how avoiding alcohol, knowing your
health history and your family health history can be helpful in preparing for
your pregnancy. Current screening options will also be reviewed.
Speakers: Sandra Darilek MS, CGC and
Melissa Strassberg, MS, CGC, Department of Molecular
and Human Genetics, Baylor College of Medicine
Date: November 6, 2007
Topic: "The Genetics of Charcot-Marie-Tooth
Disease: A Personal Journey"
Charcot-Marie-Tooth disease, commonly an inherited neurological disorder, affects
approximately 150,000 Americans. The disease affects muscle and nerve function
in patients' arms and legs, which leads to muscular weakness and atrophy.
Speaker: Dr.
James Lupski, Vice Chairman, Dept. of Molecular & Human
Genetics, Baylor College of Medicine
Date: October 9, 2007
Topic: "Challenges in the care of
people with mitochondrial disorders"
Mitochondria are tiny structures found in all the cells in our bodies and produce
most of the energy we need to function normally. Since almost all of the organs
of the body rely on mitochondria for energy, people suffering from a mitochondrial
disorder may have a wide range of symptoms, including exercise intolerance, muscle
or heart weakness, diabetes, strokes, or vision and hearing loss, or they may
have only mild signs of the disorder. Mitochondrial disorders are due to changes
or mutations in the genes that are the blueprint for normal development and health.
Treatments are available for many of the symptoms and current studies hope to
improve the diagnosis and treatment of children and adults.
Speakers: Dr.
Fernando Scaglia, Dr.
William Craigen, Associate Professors, Dept. of Molecular
and Human Genetics, Baylor College of Medicine & Debra Schindler,
President of Houston Chapter of United Mitochondrial
Disease Foundation.
Date: September 11, 2007
Topic: "Genetics of Osteoporosis
and Brittle Bone Diseases"
Osteoporosis is a common disease of adulthood, but it has its roots in childhood.
Both environmental and genetic factors contribute to this problem and patients
suffer from bone fractures and pain. Brittle bone disease in children and adults
is one of several examples of genetic diseases that can cause osteoporosis and
fractures.
Speakers: Dr.
Brendan Lee, Professor, Dept. of Molecular & Human
Genetics, Baylor College of Medicine & Lisa Walker, Parent
advocate
Date: June 5, 2007
Topic: "Approaches to treatment
of genetic diseases: enzyme replacement therapy for lysosomal
disorders"
Speaker: Dr.
Christine Eng, Dept. of Molecular and Human Genetics,
Director, Storage Disorders Clinic, Texas Children’s
Hospital
Topic: "Sickle Cell Disease: Update on Genetics,
Care and Research"
Speakers: Dr.
Chester Brown, Dept. of Molecular and Human Genetics,
Baylor College of Medicine; Dr. Brigitta Mueller, Director,
Texas Children’s Sickle Cell Center
Date: May 15, 2007
Topic: "Expanded Newborn Screening in Texas: why
early detection is so important"
Speakers: Dr.
V. Reid Sutton, Assistant Professor, Dept. of Molecular
and Human Genetics; Parent Speaker
Date: April 24, 2007
Topic: "Understanding William Syndrome:
How do genes affect language and behavior?"
Speakers: Dr. Jonathan Berg, Dept. of
Molecular and Human Genetics, Baylor College of Medicine;
Gordon Biescar, President, William Syndrome Association
Date: March 27, 2007
Topic: "We
have learned so much in the past 5 years! Genetic and Cardiology update
on Marfan Syndrome."
Speakers: Dr.
John Belmont, Professor, Dept. Molecular and Human
Genetics, Co-Director Cardiovascular Genetics Clinic
Dr. Jeff
Towbin, Professor and Chief Pediatric Cardiology, Co-Director
Cardiovascular Genetics Clinic
Date: Feb. 20, 2007
Topic: "Genetics
of congenital hearing loss: how early evaluation, diagnosis and treatment
can help your child."
Speakers: Dr. Daryl Scott, Assistant
Professor, Dept. of Molecular and Human Genetics, Baylor
College of Medicine
Dr.
John Oghalai, Assistant Professor, Otorhinolaryngology, Baylor College
of Medicine
Date: Jan. 30, 2007
Topic: "The
forgotten family history: Genetics of colon cancer"
Speakers: Sharon
E. Plon, M.D., Ph.D., Chief, Baylor Cancer Genetics
Clinics, Baylor College of Medicine
David
H. Berger, M.D., Professor and Vice Chair, Michael
E. DeBakey Department of Surgery, Baylor College of
Medicine
Date: Nov. 14, 2006
Topic: "New
Genetic Testing for Children with Developmental Disabilities of Unknown
Cause"
Speakers: Arthur
L. Beaudet, M.D., Chair, Department of Molecular
and Human Genetics, Baylor College of Medicine
Sherry Sellers Vinson, M.D., M. Ed., Chief, Developmental Pediatrics, Texas
Children’s Hospital
Date: Oct. 24, 2006
Topic: "Genetics and Gene Therapy
for Cystic Fibrosis"
Speakers: Dr.
Arthur Beaudet, Dr. Peter Hiatt
Date: Feb. 21, 2006
Topic: "Genetic Connection: Multiple
Sclerosis"
Speakers: Dr.
George Hutton, Dr.
Tim Lotze,
Dr. Jennifer Northrop
Date: March 21, 2006
Time: 7 p.m.
Topic: "New
Insights into Down Syndrome"
Speakers: Dr.
William Craigen, Dr. Nirupama Madduri, Rosa Rocha,
past president of Down Syndrome Association of Houston
Date: April 11, 2006
Time: 7 p.m.
Topic: "Autism
Treatment Network: Developing clinical and research centers of excellence"
Introduction:
Audri Villalon, Cure Autism Now, Chapter President
and Dr.
Arthur Beaudet, Chair, Department of Molecular and
Human Genetics, Baylor College of Medicine
Speakers:
Dr. Margaret Bauman, Medical Director, Autism Treatment Network; Mass General
Hospital for Children, LADDERS Clinic, Harvard Medical School
Dr. James Perrin, Director, Autism Treatment Network Coordinating Center; Professor
of Pediatrics, Mass General Hospital for Children, Harvard Medical School
Richard Fade, Parent, Board Member of Autism Treatment Network
Date: May 23, 2006
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