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Dr. Anna-Kaisa Niemi

Clinical Genetics
PALO ALTO, CA
17 years experience female

Locations

Division of Neonatology and Developmental Biology

PALO ALTO, CA

Address

750 Welch Rd, Suite 315, PALO ALTO, CA
Directions

Medical Genetics Clinic, Lucile Packard Children's Hospital

Stanford, CA

Sequoia Hospital, Dignity Health

Redwood City, CA

About

Bio

I’m a Pediatrician, Neonatal Hospitalist, Clinical Geneticist and Medical Biochemical Geneticist. I work at Stanford Children's and love my job. Yet not everything is covered during clinic visit or hospital stay at a depth a family needs. It can be due to lack of time or family not remembering or being afraid to ask. Genetic diseases can be passed to future children which adds to the worry. My interest is newborn & neonatal care and children’s genetic diseases & syndromes that often present at birth or during childhood though some may present in adulthood. I love to teach & educate. In addition to HealthTap you can follow me at my blog, Facebook Dr. AnnaKaisa or Twitter @DrAnnaKaisa where I post and write thoughts and news on Children's Health, Human Rights and life.

Specialties
Doctors may have more than one area of specialty interest. Board certification in a specialty area means the doctor has completed formal training and has practice experience in that specialty, and has passed the certification examination from the corresponding accredited medical specialty board.

Clinical Genetics

Genetics Counseling

Neonatology

Pediatrics

Languages spoken

Finnish, Swedish

Doctor Q&A

42 Answers
1 Agree
The number of answers this doctor has agreed with.
A 47-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Most are rare: Mitochondrial complex iii deficiency means defect in the third "complex" (structural unit) of the mitochondrial respiratory chain (chain of protein un... Read More
A 48-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Methemoglobinemia: Methemoglobinemia is called "blue man disease" because blood has a blue tint (instead of red) due to methemoglobin. It can be caused by ingestion of c... Read More
A 34-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
About 15,000: It is estimated that there are about 14, 000 - 15, 000 people in the usa living with pku. Pku alliance (a patient organization) has excellent informat... Read More
A 29-year-old female asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Yes, it is possible: Whenever a child has more than one thing going on, or one thing (e.g. Seizures) and additional physical findings (e.g. Cafe au lait spots) the possibi... Read More
A 48-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Energy metabolism: Mitochondrial diseases result from dysfunctional mitochondria (powerhouses of cells). When they don’t function, the body has energy deficiency. Sympto... Read More
A 18-year-old male asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
HHT is genetic: Hht also known as hereditary hemorrhagic telangiectasia is a genetic condition that causes differences in how blood vessels are formed causing so-call... Read More
A female asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Recommend evaluation: I am sorry for your loss. The risk of it happening again depends on what your child had, whether either parent could be a carrier. Sometimes risk is v... Read More
A 36-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Most of the time not: Angelman syndrome, while it is a genetic condition, is rarely inherited and thus the risk of it happening again in other children of the same parents ... Read More
A 48-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Generally no: While we all share genes with our ancestors, many genetic diseases arise spontaneously in different populations. Mutations happen all the time in our ... Read More
A 34-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Many of them: There are numerous genetic disorders that are rare. A disease is defined rare in europe when it affects less than 1 in 2000, or in the usa when it aff... Read More
A 39-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Galactosemia genetic: Galactosemia is a disease that affects how body processes a sugar called galactose which is present e.g. In dairy. It is an autosomal recessive condit... Read More
A 35-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Genetic risk: There is no one gene that causes a psychiatric illness. It is a multifactorial condition (=many things, both genetic and environmental, play a role). ... Read More
A 48-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Thousands of them: There are thousands of recessive disorders. Recessive means that each parent of is a carrier of a condition and has a chance of passing the defective ... Read More
A 45-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
No one name: There is no one defect/name that causes non-inherited genetic diseases. One example is a "de novo" genetic disease. This happens in many disorders in ... Read More
A 50-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
X-linked vs. others: Hemophilia and color blindness are inherited through x-chromosome. This means that females (who have two x chromosomes, which makes them females) are ... Read More
A 21-year-old male asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Recommend evaluation: Most brain tumors are not inherited. But it depends on the type and other associated conditions a patient has. If there are many cancers in a family a... Read More
A 42-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
It depends: It depends on what one means by dwarfism: a short stature in general (this depends on your ethnic origin as well) or a genetic syndrome which involves... Read More
A 47-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Many ways: Keratosis pilaris results from buildup of keratin which plugs the hair follicles of skin. It may occur in association with genetic diseases or with ot... Read More
A 41-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Depends on the test: There are many types of genetic disorder blood tests. They may reveal a diagnosis, a risk for a condition, or that you are a carrier of a genetic cond... Read More
A 32-year-old female asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Often it is: Mitochondrial diseases can present from any organ system at any age. Diagnosis can be made by specific clinical criteria (symptoms, brain MRI imaging,... Read More
A 42-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Depends on disease: There is no one right answer. It all depends on the disease. If one has inherited the condition from a parent, depending on their condition, they may ... Read More
A 47-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Abnormal sternum: "sternal congenital malformation" could be any abnormal formation or form of the sternum. For example "pectus excavatum" is an abnormal formation of t... Read More
A 41-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Genetic change: Mitochondrial diseases can be caused by changes in mitochondrial dna (mtdna), inherited only from mother but most are caused by changes in genes inher... Read More
A 38-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Many of them: Many problems of the muscular system can be inherited. There are hundreds if not thousands of genes that are important in the function of our muscles:... Read More
A 35-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Yes it is: Sanfilippo syndrome (mucopolysaccharidosis type iii) is a genetic condition. It is inherited in an autosomal recessive way. It means that both copies ... Read More
A 45-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Gene therapy 4future: Gene therapy is still experimental. In the future it may help treating a disorder by inserting a gene into patient’s cells instead of drugs or surgery... Read More
A 36-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Sometimes it is: Schizencephaly is a birth defect of the brain with abnormal slits/clefts in the surface of the brain. The exact cause is unknown. There are some recur... Read More
A 32-year-old female asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Counseling on risks: Genetic counseling is counseling of an individual or a family regarding risks of an inherited condition in themselves, their children, or other family... Read More
A 25-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Partly genetic: It is so called multifactorial disorders which means that both genetics and environment plays a role. There are many genes that may cause susceptibili... Read More
A 44-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
OI mostly dominant: There are many types of osteogenesis imperfecta. Most are inherited in an autosomal dominant pattern (=one copy of the altered gene sufficient to caus... Read More
A 40-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Thalassemias: Alpha and beta thalassemias are estimated to be the most common genetic conditions. Who has a nice article and list of common genetic conditions in th... Read More
A 40-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
There are numerous: There are numerous genetic conditions in which symptoms start in teenage years. A genetic condition can present at any age: during fetal life, in a ne... Read More
A 48-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
22q11 deletion: 22q deletion could be any deletion on chromosome #22, in the q arm of chromosome. Each chromosome has a short (p) and a long (q) arm. On both arms man... Read More
A 44-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Recessive disorder: Hurler syndrome is caused by a mutation in idua gene located in chromosome #4. It is an autosomal recessive condition which means that one has both co... Read More
A 40-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Recommend evaluation: It is hard to tell what genetic disorder it could be, if there is one, without seeing a patient. In making a genetic diagnosis, physical examination i... Read More
A 43-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Patau = trisomy 13: Patau syndrome = trisomy 13. Patients have extra copy of chromosome 13. It presents at birth and includes intellectual disability, often heart defects... Read More
A 42-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
No cure yet: There is no curative treatment yet available for mitochondrial disorders. However, a lot of research is being done in this area. In the meantime, the ... Read More
A 36-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Energy deficiency: Mitochondrial diseases result from dysfunctional mitochondria (powerhouses of cells). When they don’t function, the body has energy deficiency. Sympto... Read More
A 50-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Abnormal vessels: Vascular malformation is a general term that includes congenital (=present at birth) vascular anomalies of veins, lymph vessels, arteries or combinati... Read More
A 34-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
RP is genetic: Retinitis pigmentosa (rp) is a group of inherited conditions. There are close to 100 genes known to cause rp. Some are inherited from an affected pare... Read More
A 48-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Depends on disease: There are thousands of genetic and inherited diseases and also modes of inheritance. While one's genes cannot be changed, there are therapies nowadays... Read More
A 45-year-old member asked:
Dr. Anna-Kaisa Niemi
Clinical Genetics 17 years experience
Modes of inheritance: There are several types of inherited disorders. Autosomal recessive ones arise when parents are carriers (one defective gene + other normal) and both ... Read More

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Testimonials
Recommendations and Thank you notes are endorsements given from patients or other doctors.

2
Recommendations
32
Thank you notes
HealthTap member
Mar 31, 2015
Dr. Niemi is an amazing doctor! #nationaldoctorsday2015 #virtualflower1
HealthTap member
Mar 31, 2015
Dr. Niemi is an amazing doctor! #nationaldoctorsday2015 #virtualflower1
HealthTap member
Thank you, your answer was very helpful!
HealthTap member
This saved my life. Thank You!

Education & Training

Medical/Graduate school

University of Oulu Medical Faculty, Finland
Graduated 2003MD

Medical/Graduate school

University of Oulu Medical Faculty, Finland
Graduated 2005MD

Residency

LUCILE SALTER PACKARD CHILDREN'S HSP AT STANFORD
Completed 2009

Residency

STANFORD HOSPITAL
Completed 2011

Awards

Genzyme/ACMGF(American College of Medical Genetics Foundation) Clinical Fellowship in Biochemical Genetics Award (fellowship period 7/1/11-6/30/12). Given to one individual in North-America that year.
United Mitochondrial Diseases Foundation (UMDF) Clinical Fellowship Award (award period 8/16/13 – 8/15/14). Award given to one individual in North-America that year.
PhD Dissertation Excellence Award 2005. Award is given annually to one recipient for the most excellent Doctoral thesis of the year. Faculty of Medicine, Univ Oulu, Finland.

Affiliations

Stanford University
American College of Medical Genetics
Society for Inherited Metabolic Disorders
90,000 U.S. doctors in 147 specialties are here to answer your questions, provide medical advice, write prescriptions, and more.
Answer emailed
in 24 hours or less